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1. Long-term morbidity and health after early menopause due to oophorectomy in women at increased risk of ovarian cancer: Protocol for a nationwide cross-sectional study with prospective follow-up (HARMOny Study)

Author: Terra, L. (Lara), Hooning, M.J. (Maartje), Heemskerk-Gerritsen, B.A.M. (Bernadette A.M.), Beurden, M. (Marc) van, Roeters van Lennep, J.E. (Jeanine), Doorn, H.C. (Lena) van, Hullu, J.A. (Joanne) de, Mom, C.H. (Constantijne), van Dorst, E.B.L. (Eleonora B.L.), Mourits, M.J. (Marjan), Slangen, A.H.L. (Arjen), Gaarenstroom, K.N. (Katja), Zillikens, M.C. (Carola), Leiner, I. (Tim), Kolk, L.E. (Lizet) van der, Collée, J.M. (Margriet), Wevers, M.R., Ausems, M.G.E.M. (Margreet), Engelen, K. (Klaartje) van, Berger, L.P.V. (Lieke P.V.), van Asperen, C.J. (Christi J.), Gomez-Garcia, E.B. (Encarna B.), van de Beek, I. (Irma), Rookus, M.A. (Matti), Hauptmann, M. (Michael), Bleiker, E.M.A. (Eveline), Schagen, S.B. (Sanne), Aaronson, N.K. (Neil), Maas, A.H.E.M. (Angela H.E.M.), Leeuwen, F.E. (Flora) van, Terra, L. (Lara), Hooning, M.J. (Maartje), Heemskerk-Gerritsen, B.A.M. (Bernadette A.M.), Beurden, M. (Marc) van, Roeters van Lennep, J.E. (Jeanine), Doorn, H.C. (Lena) van, Hullu, J.A. (Joanne) de, Mom, C.H. (Constantijne), van Dorst, E.B.L. (Eleonora B.L.), Mourits, M.J. (Marjan), Slangen, A.H.L. (Arjen), Gaarenstroom, K.N. (Katja), Zillikens, M.C. (Carola), Leiner, I. (Tim), Kolk, L.E. (Lizet) van der, Collée, J.M. (Margriet), Wevers, M.R., Ausems, M.G.E.M. (Margreet), Engelen, K. (Klaartje) van, Berger, L.P.V. (Lieke P.V.), van Asperen, C.J. (Christi J.), Gomez-Garcia, E.B. (Encarna B.), van de Beek, I. (Irma), Rookus, M.A. (Matti), Hauptmann, M. (Michael), Bleiker, E.M.A. (Eveline), Schagen, S.B. (Sanne), Aaronson, N.K. (Neil), Maas, A.H.E.M. (Angela H.E.M.), and Leeuwen, F.E. (Flora) van
Abstract: Background: BRCA1/2 mutation carriers are recommended to undergo risk-reducing salpingo-oophorectomy (RRSO) at 35 to 45 years of age. RRSO substantially decreases ovarian cancer risk, but at the cost of immediate menopause. Knowledge about the potential adverse effects of premenopausal RRSO, such as increased risk of cardiovascular disease, osteoporosis, cognitive dysfunction, and reduced health-related quality of life (HRQoL), is limited. Objective: The aim of this study is to assess the long-term health effects of premenopausal RRSO on cardiovascular disease, bone health, cognitive functioning, urological complaints, sexual functioning, and HRQoL in women with high familial risk of breast or ovarian cancer. Methods: We will conduct a multicenter cross-sectional study with prospective follow-up, nested in a nationwide cohort of women at high familial risk of breast or ovarian cancer. A total of 500 women who have undergone RRSO before 45 years of age, with a follow-up period of at least 10 years, will be compared with 250 women (frequency matched on current age) who have not undergone RRSO or who have undergone RRSO at over 55 years of age. Participants will complete an online questionnaire on lifestyle, medical history, cardiovascular risk factors, osteoporosis, cognitive function, urological complaints, and HRQoL. A full cardiovascular assessment and assessment of bone mineral density will be performed. Blood samples will be obtained for marker analysis. Cognitive functioning will be assessed objectively with an online neuropsychological test battery. Results: This study was approved by the institutional review board in July 2018. In February 2019, we included our first participant. As of November 2020, we had enrolled 364 participants in our study. Conclusions: Knowledge from this study will contribute to counseling women with a high familial risk of breast/ovarian cancer about the long-term health effects of premenopausal RRSO. The results can also be used to o
Published: 2021
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2. Reproductive decision-making in the context of hereditary cancer: the effects of an online decision aid on informed decision-making

Author: Reumkens, K. (Kelly), Tummers, M.H.E. (Marly H. E.), Severijns, Y. (Yil), Gietel-Habets, J.J.G. (Joyce J. G.), Kuijk, S.M.J. (Sander) van, Aalfs, C.M. (Cora), van Asperen, C.J. (Christi J.), Ausems, M.G.E.M. (Margreet), Collée, J.M. (Margriet), Dommering, C.J. (Charlotte), Kets, C.M. (Marleen), Kolk, L.E. (Lizet) van der, Oosterwijk, J.C. (Jan), Tjan-Heijnen, V.C.G. (Vivianne), Weijden, T. (Trudy) van der, Die-Smulders, C. (Christine) de, van Osch, L.A.D.M. (Liesbeth A. D. M.), Reumkens, K. (Kelly), Tummers, M.H.E. (Marly H. E.), Severijns, Y. (Yil), Gietel-Habets, J.J.G. (Joyce J. G.), Kuijk, S.M.J. (Sander) van, Aalfs, C.M. (Cora), van Asperen, C.J. (Christi J.), Ausems, M.G.E.M. (Margreet), Collée, J.M. (Margriet), Dommering, C.J. (Charlotte), Kets, C.M. (Marleen), Kolk, L.E. (Lizet) van der, Oosterwijk, J.C. (Jan), Tjan-Heijnen, V.C.G. (Vivianne), Weijden, T. (Trudy) van der, Die-Smulders, C. (Christine) de, and van Osch, L.A.D.M. (Liesbeth A. D. M.)
Abstract: Individuals having a genetic predisposition to cancer and their partners face challenging decisions regarding their wish to have children. This study aimed to determine the effects of an online decision aid to support couples in making an informed decision regarding their reproductive options. A nationwide pretest-posttest study was conducted in the Netherlands among 131 participants between November 2016 and May 2018. Couples were eligible for participation if one partner had a pathogenic variant predisposing for an autosomal dominant hereditary cancer syndrome. Participants completed a questionnaire before use (T0), and at 3 months (T3) after use of the decision aid to assess the primary outcome measure informed decision-making, and the secondary outcome measures decisional conflict, knowledge, realistic expectations, level of deliberation, and decision self-efficacy. T0–T3 comparisons show an overall positive effect for all outcome measures (all ps < 0.05; knowledge (ES = − 1.05), decisional conflict (ES = 0.99), participants’ decision self-efficacy (ES = −0.55), level of deliberation (ES = − 0.50), and realistic expectations (ES = − 0.44). Informed decision-making increased over time and 58.0% of the participants made an informed reproductive decision at T3. The online decision aid seems to be an appropriate tool to complement standard reproductive counseling to support our target group in making an informed reproductive decision. Use of the decision aid may lessen the negative psychological impact of decision-making on couples’ daily life and wellbeing.
Published: 2020
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3. The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations

Author: Terry, M-B. (Mary-beth), Liao, Y.Y., Kast, K. (Karin), Antoniou, A.C. (Antonis), McDonald, JA, Mooij, T.M. (Thea), Engel, C., Nogues, C. (Catherine), Buecher, B. (Bruno), Mari, V., Moretta-Serra, J., Gladieff, L, Luporsi, E., Barrowdale, D. (Daniel), Frost, D. (Debra), Henderson, A, Brewer, C. (C.), Evans, DGR, Eccles, D. (Diana), Cook, J. (Jackie), Ong, K.-R. (Kai-Ren), Izatt, L. (Louise), Ahmed, M., Morrison, P.J. (Patrick), Dommering, C.J. (Charlotte), Oosterwijk, J.C. (Jan), Ausems, M.G.E.M. (Margreet), Kriege, M., Buys, S.S. (Saundra), Andrulis, I.L. (Irene), John, E.M. (Esther), Daly, M.J. (Mark), Friedlander, M. (Michael), McLachlan, SA, Osorio, A. (Ana), Caldes, T. (Trinidad), Jakubowska, A. (Anna), Simard, J. (Jacques), Singer, C.F. (Christian), Tan, Y.H. (Yao Hua), Olah, E., Navratilova, M, Foretova, L. (Lenka), Gerdes, A-M. (Anne-Marie), Roos-Blom, M.J., Arver, B. (Brita Wasteson), Olsson, H. (Hans), Schmutzler, R.K. (Rita), Hopper, J. (John), Leeuwen, F.E. (Flora) van, Goldgar, D. (David), Milne, R.L. (Roger), Easton, D.F. (Douglas), Rookus, M.A. (M.), Andrieu, N, Evans, D.G. (Gareth), Adlard, J.W. (Julian), Eeles, R. (Rosalind), Davidson, R. (Rosemarie), Tischkowitz, M. (Marc), Snape, K., Walker, L.J. (Lisa), Porteous, M.E. (Mary), Donaldson, A. (Alan), Morrison, P, Eason, J. (Jacqueline), Rogers, M, Miller, C, Brady, A, Kennedy, M.J. (John), Barwell, J. (Julian), Gregory, H. (Helen), Pottinger, C. (Caroline), Murray, A. (Anna), Angelakos, M., Dite, G., Tsimiklis, H. (Helen), Breysse, E., Pontois, P., Laborde, L., Stoppa-Lyonnet, D. (Dominique), Gauthier-Villars, M. (Marion), Caron, O. (Olivier), Fourme-Mouret, E., Fricker, J.P. (Jean Pierre), Lasset, C. (Christine), Bonadona, V. (Valérie), Fert-Ferrer, S. (Sandra), Berthet, P. (Pascaline), Vénat-Bouvet, L. (Laurence), Gilbert-Dussardier, B., Faivre, L. (Laurence), Gesta, P., Sobol, H. (Hagay), Eisinger, F. (François), Longy, M. (Michel), Dugast, C., Coupier, I. (Isabelle), Colas, C. (Chrystelle), Soubrier, F., Pujol, P. (Pascal), Corsini, C., Lortholary, A, Vennin, P. (Philippe), Adenis, C., Nguyen, T.D., Penet, C., Delnatte, C.D. (Capucine), Tinat, J., Tennevet, I., Limacher, J.M., Maugard, C., Demange, L., Dreyfus, H. (Hélène), Cohen-Haguenauer, O. (Odile), Leroux, D. (Dominique), Zattara-Cannoni, H., Bera, O., Hogervorst, F.B.L. (Frans), Adank, M.A. (Muriel), Schmidt, M.K. (Marjanka), Russell, N.S. (Nicola), Jenner, D.J., Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Hooning, M.J. (Maartje), Seynaeve, C.M. (Caroline), Deurzen, C.H.M. (Carolien) van, Obdeijn, A.I.M. (Inge-Marie), Asperen, C.J. (Christi) van, Devilee, P. (P.), Kets, C.M. (Marleen), Mensenkamp, A.R. (Arjen), Koudijs, MJ, Aalfs, C.M. (Cora), Engelen, K. (Klaartje) van, Gille, J.J. (Johan), Gómez García, E.B. (Encarna), Blok, M.J.C., Hout, A.H. (Annemarie) van der, Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Siesling, S. (Sabine), Verloop, H. (Herman), Belt-Dusebout, A.W. (Alexandra) van den, Terry, M-B. (Mary-beth), Liao, Y.Y., Kast, K. (Karin), Antoniou, A.C. (Antonis), McDonald, JA, Mooij, T.M. (Thea), Engel, C., Nogues, C. (Catherine), Buecher, B. (Bruno), Mari, V., Moretta-Serra, J., Gladieff, L, Luporsi, E., Barrowdale, D. (Daniel), Frost, D. (Debra), Henderson, A, Brewer, C. (C.), Evans, DGR, Eccles, D. (Diana), Cook, J. (Jackie), Ong, K.-R. (Kai-Ren), Izatt, L. (Louise), Ahmed, M., Morrison, P.J. (Patrick), Dommering, C.J. (Charlotte), Oosterwijk, J.C. (Jan), Ausems, M.G.E.M. (Margreet), Kriege, M., Buys, S.S. (Saundra), Andrulis, I.L. (Irene), John, E.M. (Esther), Daly, M.J. (Mark), Friedlander, M. (Michael), McLachlan, SA, Osorio, A. (Ana), Caldes, T. (Trinidad), Jakubowska, A. (Anna), Simard, J. (Jacques), Singer, C.F. (Christian), Tan, Y.H. (Yao Hua), Olah, E., Navratilova, M, Foretova, L. (Lenka), Gerdes, A-M. (Anne-Marie), Roos-Blom, M.J., Arver, B. (Brita Wasteson), Olsson, H. (Hans), Schmutzler, R.K. (Rita), Hopper, J. (John), Leeuwen, F.E. (Flora) van, Goldgar, D. (David), Milne, R.L. (Roger), Easton, D.F. (Douglas), Rookus, M.A. (M.), Andrieu, N, Evans, D.G. (Gareth), Adlard, J.W. (Julian), Eeles, R. (Rosalind), Davidson, R. (Rosemarie), Tischkowitz, M. (Marc), Snape, K., Walker, L.J. (Lisa), Porteous, M.E. (Mary), Donaldson, A. (Alan), Morrison, P, Eason, J. (Jacqueline), Rogers, M, Miller, C, Brady, A, Kennedy, M.J. (John), Barwell, J. (Julian), Gregory, H. (Helen), Pottinger, C. (Caroline), Murray, A. (Anna), Angelakos, M., Dite, G., Tsimiklis, H. (Helen), Breysse, E., Pontois, P., Laborde, L., Stoppa-Lyonnet, D. (Dominique), Gauthier-Villars, M. (Marion), Caron, O. (Olivier), Fourme-Mouret, E., Fricker, J.P. (Jean Pierre), Lasset, C. (Christine), Bonadona, V. (Valérie), Fert-Ferrer, S. (Sandra), Berthet, P. (Pascaline), Vénat-Bouvet, L. (Laurence), Gilbert-Dussardier, B., Faivre, L. (Laurence), Gesta, P., Sobol, H. (Hagay), Eisinger, F. (François), Longy, M. (Michel), Dugast, C., Coupier, I. (Isabelle), Colas, C. (Chrystelle), Soubrier, F., Pujol, P. (Pascal), Corsini, C., Lortholary, A, Vennin, P. (Philippe), Adenis, C., Nguyen, T.D., Penet, C., Delnatte, C.D. (Capucine), Tinat, J., Tennevet, I., Limacher, J.M., Maugard, C., Demange, L., Dreyfus, H. (Hélène), Cohen-Haguenauer, O. (Odile), Leroux, D. (Dominique), Zattara-Cannoni, H., Bera, O., Hogervorst, F.B.L. (Frans), Adank, M.A. (Muriel), Schmidt, M.K. (Marjanka), Russell, N.S. (Nicola), Jenner, D.J., Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Hooning, M.J. (Maartje), Seynaeve, C.M. (Caroline), Deurzen, C.H.M. (Carolien) van, Obdeijn, A.I.M. (Inge-Marie), Asperen, C.J. (Christi) van, Devilee, P. (P.), Kets, C.M. (Marleen), Mensenkamp, A.R. (Arjen), Koudijs, MJ, Aalfs, C.M. (Cora), Engelen, K. (Klaartje) van, Gille, J.J. (Johan), Gómez García, E.B. (Encarna), Blok, M.J.C., Hout, A.H. (Annemarie) van der, Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Siesling, S. (Sabine), Verloop, H. (Herman), and Belt-Dusebout, A.W. (Alexandra) van den
Abstract: Background: Full-term pregnancy (FTP) is associated with a reduced breast cancer (BC) risk over time, but women are at increased BC risk in the immediate years following an FTP. No large prospective studies, however, have examined whether the number and timing of pregnancies are associated with BC risk for BRCA1 and BRCA2 mutation carriers. Methods: Using weighted and time-varying Cox proportional hazards models, we investigated whether reproductive events are associated with BC risk for mutation carriers using a retrospective cohort (5707 BRCA1 and 3525 BRCA2 mutation carriers) and a prospective cohort (2276 BRCA1 and 1610 BRCA2 mutation carriers), separately for each cohort and the combined prospective and retrospective cohort. Results: For BRCA1 mutation carriers, there was no overall association with parity compared with nulliparity (combined hazard ratio [HRc] ¼ 0.99, 95% confidence interval [CI] ¼ 0.83 to 1.18). Relative to being uniparous, an increased number of FTPs was associated with decreased BC risk (HRc¼ 0.79, 95% CI ¼ 0.69 to 0.91; HRc¼ 0.70, 95% CI ¼ 0.59 to 0.82; HRc¼ 0.50, 95% CI ¼ 0.40 to 0.63, for 2, 3, and 4 FTPs, respectively, Ptrend < .0001) and increasing duration of breastfeeding was associated with decreased BC risk (combined cohort Ptrend ¼ .0003). Relative to being nulliparous, uniparous BRCA1 mutation carriers were at increased BC risk in the prospective analysis (prospective hazard ration [HRp] ¼ 1.69, 95% CI ¼ 1.09 to 2.62). For BRCA2 mutation carriers, being parous was associated with a 30% increase in BC risk (HRc ¼ 1.33, 95% CI ¼ 1.05 to 1.69), and there was no apparent decrease in risk associated with multiparity except for having at least 4 FTPs vs. 1 FTP (HRc¼ 0.72, 95% CI ¼ 0.54 to 0.98). Conclusions: These findings suggest differential associations with parity between BRCA1 and BRCA2 mutation carriers with higher risk for uniparous BRCA1 carriers and parous BRCA2 carriers.
Published: 2019

4. The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations

Author: Terry, M-B. (Mary-beth), Liao, Y.Y., Kast, K. (Karin), Antoniou, A.C. (Antonis), McDonald, JA, Mooij, T.M. (Thea), Engel, C., Nogues, C. (Catherine), Buecher, B. (Bruno), Mari, V., Moretta-Serra, J., Gladieff, L, Luporsi, E., Barrowdale, D. (Daniel), Frost, D. (Debra), Henderson, A, Brewer, C. (C.), Evans, DGR, Eccles, D. (Diana), Cook, J. (Jackie), Ong, K.-R. (Kai-Ren), Izatt, L. (Louise), Ahmed, M., Morrison, P.J. (Patrick), Dommering, C.J. (Charlotte), Oosterwijk, J.C. (Jan), Ausems, M.G.E.M. (Margreet), Kriege, M., Buys, S.S. (Saundra), Andrulis, I.L. (Irene), John, E.M. (Esther), Daly, M.J. (Mark), Friedlander, M. (Michael), McLachlan, SA, Osorio, A. (Ana), Caldes, T. (Trinidad), Jakubowska, A. (Anna), Simard, J. (Jacques), Singer, C.F. (Christian), Tan, Y.H. (Yao Hua), Olah, E., Navratilova, M, Foretova, L. (Lenka), Gerdes, A-M. (Anne-Marie), Roos-Blom, M.J., Arver, B. (Brita Wasteson), Olsson, H. (Hans), Schmutzler, R.K. (Rita), Hopper, J. (John), Leeuwen, F.E. (Flora) van, Goldgar, D. (David), Milne, R.L. (Roger), Easton, D.F. (Douglas), Rookus, M.A. (M.), Andrieu, N, Evans, D.G. (Gareth), Adlard, J.W. (Julian), Eeles, R. (Rosalind), Davidson, R. (Rosemarie), Tischkowitz, M. (Marc), Snape, K., Walker, L.J. (Lisa), Porteous, M.E. (Mary), Donaldson, A. (Alan), Morrison, P, Eason, J. (Jacqueline), Rogers, M, Miller, C, Brady, A, Kennedy, M.J. (John), Barwell, J. (Julian), Gregory, H. (Helen), Pottinger, C. (Caroline), Murray, A. (Anna), Angelakos, M., Dite, G., Tsimiklis, H. (Helen), Breysse, E., Pontois, P., Laborde, L., Stoppa-Lyonnet, D. (Dominique), Gauthier-Villars, M. (Marion), Caron, O. (Olivier), Fourme-Mouret, E., Fricker, J.P. (Jean Pierre), Lasset, C. (Christine), Bonadona, V. (Valérie), Fert-Ferrer, S. (Sandra), Berthet, P. (Pascaline), Vénat-Bouvet, L. (Laurence), Gilbert-Dussardier, B., Faivre, L. (Laurence), Gesta, P., Sobol, H. (Hagay), Eisinger, F. (François), Longy, M. (Michel), Dugast, C., Coupier, I. (Isabelle), Colas, C. (Chrystelle), Soubrier, F., Pujol, P. (Pascal), Corsini, C., Lortholary, A, Vennin, P. (Philippe), Adenis, C., Nguyen, T.D., Penet, C., Delnatte, C.D. (Capucine), Tinat, J., Tennevet, I., Limacher, J.M., Maugard, C., Demange, L., Dreyfus, H. (Hélène), Cohen-Haguenauer, O. (Odile), Leroux, D. (Dominique), Zattara-Cannoni, H., Bera, O., Hogervorst, F.B.L. (Frans), Adank, M.A. (Muriel), Schmidt, M.K. (Marjanka), Russell, N.S. (Nicola), Jenner, D.J., Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Hooning, M.J. (Maartje), Seynaeve, C.M. (Caroline), Deurzen, C.H.M. (Carolien) van, Obdeijn, A.I.M. (Inge-Marie), Asperen, C.J. (Christi) van, Devilee, P. (P.), Kets, C.M. (Marleen), Mensenkamp, A.R. (Arjen), Koudijs, MJ, Aalfs, C.M. (Cora), Engelen, K. (Klaartje) van, Gille, J.J. (Johan), Gómez García, E.B. (Encarna), Blok, M.J.C., Hout, A.H. (Annemarie) van der, Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Siesling, S. (Sabine), Verloop, H. (Herman), Belt-Dusebout, A.W. (Alexandra) van den, Terry, M-B. (Mary-beth), Liao, Y.Y., Kast, K. (Karin), Antoniou, A.C. (Antonis), McDonald, JA, Mooij, T.M. (Thea), Engel, C., Nogues, C. (Catherine), Buecher, B. (Bruno), Mari, V., Moretta-Serra, J., Gladieff, L, Luporsi, E., Barrowdale, D. (Daniel), Frost, D. (Debra), Henderson, A, Brewer, C. (C.), Evans, DGR, Eccles, D. (Diana), Cook, J. (Jackie), Ong, K.-R. (Kai-Ren), Izatt, L. (Louise), Ahmed, M., Morrison, P.J. (Patrick), Dommering, C.J. (Charlotte), Oosterwijk, J.C. (Jan), Ausems, M.G.E.M. (Margreet), Kriege, M., Buys, S.S. (Saundra), Andrulis, I.L. (Irene), John, E.M. (Esther), Daly, M.J. (Mark), Friedlander, M. (Michael), McLachlan, SA, Osorio, A. (Ana), Caldes, T. (Trinidad), Jakubowska, A. (Anna), Simard, J. (Jacques), Singer, C.F. (Christian), Tan, Y.H. (Yao Hua), Olah, E., Navratilova, M, Foretova, L. (Lenka), Gerdes, A-M. (Anne-Marie), Roos-Blom, M.J., Arver, B. (Brita Wasteson), Olsson, H. (Hans), Schmutzler, R.K. (Rita), Hopper, J. (John), Leeuwen, F.E. (Flora) van, Goldgar, D. (David), Milne, R.L. (Roger), Easton, D.F. (Douglas), Rookus, M.A. (M.), Andrieu, N, Evans, D.G. (Gareth), Adlard, J.W. (Julian), Eeles, R. (Rosalind), Davidson, R. (Rosemarie), Tischkowitz, M. (Marc), Snape, K., Walker, L.J. (Lisa), Porteous, M.E. (Mary), Donaldson, A. (Alan), Morrison, P, Eason, J. (Jacqueline), Rogers, M, Miller, C, Brady, A, Kennedy, M.J. (John), Barwell, J. (Julian), Gregory, H. (Helen), Pottinger, C. (Caroline), Murray, A. (Anna), Angelakos, M., Dite, G., Tsimiklis, H. (Helen), Breysse, E., Pontois, P., Laborde, L., Stoppa-Lyonnet, D. (Dominique), Gauthier-Villars, M. (Marion), Caron, O. (Olivier), Fourme-Mouret, E., Fricker, J.P. (Jean Pierre), Lasset, C. (Christine), Bonadona, V. (Valérie), Fert-Ferrer, S. (Sandra), Berthet, P. (Pascaline), Vénat-Bouvet, L. (Laurence), Gilbert-Dussardier, B., Faivre, L. (Laurence), Gesta, P., Sobol, H. (Hagay), Eisinger, F. (François), Longy, M. (Michel), Dugast, C., Coupier, I. (Isabelle), Colas, C. (Chrystelle), Soubrier, F., Pujol, P. (Pascal), Corsini, C., Lortholary, A, Vennin, P. (Philippe), Adenis, C., Nguyen, T.D., Penet, C., Delnatte, C.D. (Capucine), Tinat, J., Tennevet, I., Limacher, J.M., Maugard, C., Demange, L., Dreyfus, H. (Hélène), Cohen-Haguenauer, O. (Odile), Leroux, D. (Dominique), Zattara-Cannoni, H., Bera, O., Hogervorst, F.B.L. (Frans), Adank, M.A. (Muriel), Schmidt, M.K. (Marjanka), Russell, N.S. (Nicola), Jenner, D.J., Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Hooning, M.J. (Maartje), Seynaeve, C.M. (Caroline), Deurzen, C.H.M. (Carolien) van, Obdeijn, A.I.M. (Inge-Marie), Asperen, C.J. (Christi) van, Devilee, P. (P.), Kets, C.M. (Marleen), Mensenkamp, A.R. (Arjen), Koudijs, MJ, Aalfs, C.M. (Cora), Engelen, K. (Klaartje) van, Gille, J.J. (Johan), Gómez García, E.B. (Encarna), Blok, M.J.C., Hout, A.H. (Annemarie) van der, Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Siesling, S. (Sabine), Verloop, H. (Herman), and Belt-Dusebout, A.W. (Alexandra) van den
Abstract: Background: Full-term pregnancy (FTP) is associated with a reduced breast cancer (BC) risk over time, but women are at increased BC risk in the immediate years following an FTP. No large prospective studies, however, have examined whether the number and timing of pregnancies are associated with BC risk for BRCA1 and BRCA2 mutation carriers. Methods: Using weighted and time-varying Cox proportional hazards models, we investigated whether reproductive events are associated with BC risk for mutation carriers using a retrospective cohort (5707 BRCA1 and 3525 BRCA2 mutation carriers) and a prospective cohort (2276 BRCA1 and 1610 BRCA2 mutation carriers), separately for each cohort and the combined prospective and retrospective cohort. Results: For BRCA1 mutation carriers, there was no overall association with parity compared with nulliparity (combined hazard ratio [HRc] ¼ 0.99, 95% confidence interval [CI] ¼ 0.83 to 1.18). Relative to being uniparous, an increased number of FTPs was associated with decreased BC risk (HRc¼ 0.79, 95% CI ¼ 0.69 to 0.91; HRc¼ 0.70, 95% CI ¼ 0.59 to 0.82; HRc¼ 0.50, 95% CI ¼ 0.40 to 0.63, for 2, 3, and 4 FTPs, respectively, Ptrend < .0001) and increasing duration of breastfeeding was associated with decreased BC risk (combined cohort Ptrend ¼ .0003). Relative to being nulliparous, uniparous BRCA1 mutation carriers were at increased BC risk in the prospective analysis (prospective hazard ration [HRp] ¼ 1.69, 95% CI ¼ 1.09 to 2.62). For BRCA2 mutation carriers, being parous was associated with a 30% increase in BC risk (HRc ¼ 1.33, 95% CI ¼ 1.05 to 1.69), and there was no apparent decrease in risk associated with multiparity except for having at least 4 FTPs vs. 1 FTP (HRc¼ 0.72, 95% CI ¼ 0.54 to 0.98). Conclusions: These findings suggest differential associations with parity between BRCA1 and BRCA2 mutation carriers with higher risk for uniparous BRCA1 carriers and parous BRCA2 carriers.
Published: 2019

5. Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers

Author: Heemskerk-Gerritsen, B.A.M. (Bernadette), Jager, A. (Agnes), Koppert, L.B. (Linetta), Obdeijn, A.I.M. (Inge-Marie), Collée, J.M. (Margriet), Meijers-Heijboer, HE, Jenner, D.J., Oldenburg, H.S.A., Engelen, K. (Klaartje) van, Vries, J. (Jelle) de, Asperen, C.J. (Christi) van, Devilee, P. (P.), Blok, M.J.C., Kets, C.M. (Marleen), Ausems, M.G.E.M. (Margreet), Seynaeve, C., Rookus, M.A. (M.), Hooning, M.J. (Maartje), Heemskerk-Gerritsen, B.A.M. (Bernadette), Jager, A. (Agnes), Koppert, L.B. (Linetta), Obdeijn, A.I.M. (Inge-Marie), Collée, J.M. (Margriet), Meijers-Heijboer, HE, Jenner, D.J., Oldenburg, H.S.A., Engelen, K. (Klaartje) van, Vries, J. (Jelle) de, Asperen, C.J. (Christi) van, Devilee, P. (P.), Blok, M.J.C., Kets, C.M. (Marleen), Ausems, M.G.E.M. (Margreet), Seynaeve, C., Rookus, M.A. (M.), and Hooning, M.J. (Maartje)
Abstract: Background In healthy BRCA1/2 mutation carriers, bilateral risk-reducing mastectomy (BRRM) strongly reduces the risk of developing breast cancer (BC); however, no clear survival beneft of BRRM over BC surveillance has been reported yet. Methods In this Dutch multicenter cohort study, we used multivariable Cox models with BRRM as a time-dependent covariable to estimate the associations between BRRM and the overall and BC-specifc mortality rates, separately for BRCA1 and BRCA2 mutation carriers. Results During a mean follow-up of 10.3 years, 722 out of 1712 BRCA1 (42%) and 406 out of 1145 BRCA2 (35%) mutation carriers underwent BRRM. For BRCA1 mutation carriers, we observed 52 deaths (20 from BC) in the surveillance group, and 10 deaths (one from BC) after BRRM. The hazard ratios were 0.40 (95% CI 0.20–0.90) for overall mortality and 0.06 (95% CI 0.01–0.46) for BC-specifc mortality. BC-specifc survival at age 65 was 93% for surveillance and 99.7% for BRRM. For BRCA2 mutation carriers, we observed 29 deaths (7 from BC) in the surveillance group, and 4 deaths (no BC) after BRRM. The hazard ratio for overall mortality was 0.45 (95% CI 0.15–1.36). BC-specifc survival at age 65 was 98% for surveillance and 100% for BRRM. Conclusion BRRM was associated with lower mortality than surveillance for BRCA1 mutation carriers, but for BRCA2 mutation carriers, BRRM may lead to similar BC-specifc survival as surveillance. Our fndings support a more individualized counseling based on BRCA mutation type.
Published: 2019
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6. Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers

Author: Derks-Smeets, I.A.P. (Inge A. P.), Schrijver, L.H. (Lieske), Die-Smulders, C. (Christine) de, Tjan-Heijnen, V.C.G. (Vivianne), Golde, R.J.T. (Ronald) van, Smits, L.J. (Luc), Caanen, B., van Asperen, C.J. (Christi J.), Ausems, M.G.E.M. (Margreet), Collée, J.M. (Margriet), Engelen, K. (Klaartje) van, Kets, C.M. (Marleen), Kolk, L.E. (Lizet) van der, Oosterwijk, J.C. (Jan), Os, T.A.M. (Theo) van, Rookus, M.A. (Matti), Leeuwen, F.E. (Flora) van, Gómez García, E.B. (Encarna), Derks-Smeets, I.A.P. (Inge A. P.), Schrijver, L.H. (Lieske), Die-Smulders, C. (Christine) de, Tjan-Heijnen, V.C.G. (Vivianne), Golde, R.J.T. (Ronald) van, Smits, L.J. (Luc), Caanen, B., van Asperen, C.J. (Christi J.), Ausems, M.G.E.M. (Margreet), Collée, J.M. (Margriet), Engelen, K. (Klaartje) van, Kets, C.M. (Marleen), Kolk, L.E. (Lizet) van der, Oosterwijk, J.C. (Jan), Os, T.A.M. (Theo) van, Rookus, M.A. (Matti), Leeuwen, F.E. (Flora) van, and Gómez García, E.B. (Encarna)
Abstract: Background: The effect of in vitro fertilisation (IVF) on breast cancer risk for BRCA1/2 mutation carriers is rarely examined. As carriers may increasingly undergo IVF as part of preimplantation genetic diagnosis (PGD), we examined the impact of ovarian stimulation for IVF on breast cancer risk in BRCA1/2 mutation carriers. Methods: The study population consisted of 1550 BRCA1 and 964 BRCA2 mutation carriers, derived from the nationwide HEBON study and the nationwide PGD registry. Questionnaires, clinical records and linkages with the Netherlands Cancer Registry were used to collect data on IVF exposure, risk-reducing surgeries and cancer diagnosis, respectively. Time-dependent Cox regression analyses were conducted, stratified for birth cohort and adjusted for subfertility. Results: Of the 2514 BRCA1/2 mutation carriers, 3% (n = 76) were exposed to ovarian stimulation for IVF. In total, 938 BRCA1/2 mutation carriers (37.3%) were diagnosed with breast cancer. IVF exposure was not associated with risk of breast cancer (HR: 0.79, 95% CI: 0.46–1.36). Similar results were found for the subgroups of subfertile women (n = 232; HR: 0.73, 95% CI: 0.39–1.37) and BRCA1 mutation carriers (HR: 1.12, 95% CI: 0.60–2.09). In addition, age at and recency of first IVF treatment were not associated with breast cancer risk. Conclusion: No evidence was found for an association between ovarian stimulation for IVF and breast cancer risk in BRCA1/2 mutation carriers.
Published: 2018
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7. Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision-making

Author: Reumkens, K. (Kelly), Tummers, M.H.E. (Marly), Gietel-Habets, J.J.G. (Joyce), Kuijk, S.M.J. (Sander) van, Aalfs, C.M. (Cora), Asperen, C.J. (Christi) van, Ausems, M.G.E.M. (Margreet), Collée, J.M. (Margriet), Dommering, C.J. (Charlotte), Kets, C.M. (Marleen), Kolk, L.E. (Lizet) van der, Oosterwijk, J.C. (Jan), Tjan-Heijnen, V.C.G. (Vivianne), Weijden, T. (Trudy) van der, Die-Smulders, C. (Christine) de, Osch, L.A.D.M. (Liesbeth) van, Reumkens, K. (Kelly), Tummers, M.H.E. (Marly), Gietel-Habets, J.J.G. (Joyce), Kuijk, S.M.J. (Sander) van, Aalfs, C.M. (Cora), Asperen, C.J. (Christi) van, Ausems, M.G.E.M. (Margreet), Collée, J.M. (Margriet), Dommering, C.J. (Charlotte), Kets, C.M. (Marleen), Kolk, L.E. (Lizet) van der, Oosterwijk, J.C. (Jan), Tjan-Heijnen, V.C.G. (Vivianne), Weijden, T. (Trudy) van der, Die-Smulders, C. (Christine) de, and Osch, L.A.D.M. (Liesbeth) van
Abstract: A nationwide pretest–posttest study was conducted in all clinical genetic centres in the Netherlands, to evaluate the effects of an online decision aid to support persons who have a genetic predisposition to cancer and their partners in making an informed decision regarding reproductive options. Main outcomes (decisional conflict, knowledge, realistic expectations, level of deliberation, and decision self‐efficacy) were measured before use (T0), immediately after use (T1), and at 2 weeks (T2) after use of the decision aid. Paired sample t tests were used to compute differences between the first and subsequent measurements. T0–T1 and T0–T2 comparisons indicate a significant reduction in mean decisional conflict scores with stronger effects for participants with high baseline deci‐ sional conflict. Furthermore, use of the decision aid resulted in increased knowledge levels and improved realistic expectations. Level of deliberation only increased for partici‐ pants with lower baseline levels of deliberation. Decision self‐efficacy increased for those with low baseline scores, whereas those with high baseline scores showed a reduction at T2. It can be concluded that use of the decision aid resulted in several positive outcomes indicative of informed decision‐making. The decision aid is an appropriate and highly ap‐ preciated tool to be used in addition to reproductive counseling.
Published: 2018
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8. The development of an online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making: a usability and pilot study

Author: Reumkens, K. (Kelly), Tummers, M.H.E. (Marly H. E.), Gietel-Habets, J.J.G. (Joyce J. G.), Kuijk, S.M.J. (Sander) van, Aalfs, C.M. (Cora), van Asperen, C.J. (Christi J.), Ausems, M.G.E.M. (Margreet), Collée, J.M. (Margriet), Dommering, C.J. (Charlotte), Kets, C.M. (Marleen), Kolk, L.E. (Lizet) van der, Oosterwijk, J.C. (Jan), Tjan-Heijnen, V.C.G. (Vivianne), Weijden, T. (Trudy) van der, Die-Smulders, C. (Christine) de, van Osch, L.A.D.M. (Liesbeth A. D. M.), Reumkens, K. (Kelly), Tummers, M.H.E. (Marly H. E.), Gietel-Habets, J.J.G. (Joyce J. G.), Kuijk, S.M.J. (Sander) van, Aalfs, C.M. (Cora), van Asperen, C.J. (Christi J.), Ausems, M.G.E.M. (Margreet), Collée, J.M. (Margriet), Dommering, C.J. (Charlotte), Kets, C.M. (Marleen), Kolk, L.E. (Lizet) van der, Oosterwijk, J.C. (Jan), Tjan-Heijnen, V.C.G. (Vivianne), Weijden, T. (Trudy) van der, Die-Smulders, C. (Christine) de, and van Osch, L.A.D.M. (Liesbeth A. D. M.)
Abstract: An online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making was developed. A two-phase usability test was conducted among 12 couples (N = 22; 2 persons participated without their partner) at risk for hereditary cancer and 15 health care providers. Couples and health care providers expressed similar suggestions for improvements, and evaluated the modified decision aid as acceptable, easy to use, and comprehensible. The final decision aid was pilot tested (N = 16) with paired sample t tests comparing main outcomes (decisional conflict, knowledge, realistic expectations regarding the reproductive options and decision self-efficacy) before (T0), immediately (T1) and 2 weeks after (T2) use of the decision aid. Pilot testing indicated decreased decisional conflict scores, increased knowledge, and improved realistic expectations regarding the reproductive options, at T1 and T2. No effect was found for couples’ decision self-efficacy. The positive findings during usability testing were thus reflected in the pilot study. The decision aid will be further evaluated in a nationwide pretest–posttest study to facilitate implementation in the onco-genetic counselling setting. Ultimately, it is expected that the decision aid will enable end-users to make an informed decision.
Published: 2018
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9. Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk

Author: Liu, J. (Jingjing), Prager-van der Smissen, W.J.C. (Wendy), Schmidt, M.K. (Marjanka), Collée, J.M. (Margriet), Cornelissen, S. (Sten), Lamping, R. (Roy), Nieuwlaat, A. (Anja), Foekens, J.A. (John), Hooning, M.J. (Maartje), Verhoef, S., Ouweland, A.M.W. (Ans) van den, Hogervorst, F.B.L. (Frans), Martens, J.W.M. (John), Hollestelle, A. (Antoinette), Liu, J. (Jingjing), Prager-van der Smissen, W.J.C. (Wendy), Schmidt, M.K. (Marjanka), Collée, J.M. (Margriet), Cornelissen, S. (Sten), Lamping, R. (Roy), Nieuwlaat, A. (Anja), Foekens, J.A. (John), Hooning, M.J. (Maartje), Verhoef, S., Ouweland, A.M.W. (Ans) van den, Hogervorst, F.B.L. (Frans), Martens, J.W.M. (John), and Hollestelle, A. (Antoinette)
Abstract: The HOXB13 p.G84E mutation has been firmly established as a prostate cancer susceptibility allele. Although HOXB13 also plays a role in breast tumor progression, the association of HOXB13 p.G84E with breast cancer risk is less evident. Therefore, we comprehensively interrogated the entire HOXB13 coding sequence for mutations in 1,250 non-BRCA1/2 familial breast cancer cases and 800 controls. We identified two predicted deleterious missense mutations, p.G84E and p.R217C, that were recurrent among breast cancer cases and further evaluated their association with breast cancer risk in a larger study. Taken together, 4,520 familial non-BRCA1/2 breast cancer cases and 3,127 controls were genotyped including the cases and controls of the whole gene screen. The concordance rate for the genotyping assays compared with Sanger sequencing was 100%. The prostate cancer risk allele p.G84E was identified in 18 (0.56%) of 3,187 cases and 16 (0.70%) of 2,300 controls (OR = 0.81, 95% CI = 0.41-1.59, P = 0.54). Additionally, p.R217C was identified in 10 (0.31%) of 3,208 cases and 2 (0.087%) of 2,288 controls (OR = 3.57, 95% CI = 0.76-33.57, P = 0.14). These results imply that none of the recurrent HOXB13 mutations in the Dutch population are associated with breast cancer risk, although it may be worthwhile to evaluate p.R217C in a larger study.
Published: 2016
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10. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Author: Lawrenson, K. (Kate), Kar, S. (Siddhartha), McCue, K. (Karen), Kuchenbaeker, K. (Karoline), Michailidou, K. (Kyriaki), Tyrer, J.P. (Jonathan), Beesley, J. (Jonathan), Ramus, S.J. (Susan), Li, Q. (Qiyuan), Delgado, M.K. (Melissa K.), Lee, J.M. (Janet M.), Aittomäki, K. (Kristiina), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Arun, B.K. (Banu), Arver, B. (Brita Wasteson), Bandera, E.V. (Elisa), Barile, M. (Monica), Barkardottir, R.B. (Rosa B.), Barrowdale, D. (Daniel), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Berchuck, A. (Andrew), Bisogna, M. (Maria), Bjorge, L. (Line), Blomqvist, C. (Carl), Blot, W.J. (William), Bogdanova, N.V. (Natalia), Bojesen, A. (Anders), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet K.), Bonnani, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brennan, P. (Paul), Brenner, H. (Hermann), Bruinsma, F. (Fiona), Brunet, J. (Joan), Buhari, S.A.B.S. (Shaik Ahmad Bin Syed), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Buys, S.S. (Saundra), Cai, Q. (Qiuyin), Caldes, T. (Trinidad), Campbell, I. (Ian), Canniotto, R. (Rikki), Chang-Claude, J. (Jenny), Chiquette, J. (Jocelyne), Choi, J.-Y. (Ji-Yeob), Claes, K.B.M. (Kathleen B.M.), Cook, L.S. (Linda S.), Cox, A. (Angela), Cramer, D.W. (Daniel), Cross, S.S. (Simon), Cybulski, C. (Cezary), Czene, K. (Kamila), Daly, M.B. (Mary B.), Damiola, F. (Francesca), Dansonka-Mieszkowska, A. (Agnieszka), Darabi, H. (Hatef), Dennis, J. (Joe), Devilee, P. (Peter), Díez, O. (Orland), Doherty, J.A. (Jennifer A.), Domchek, S.M. (Susan), Dorfling, C.M. (Cecilia), Dörk, T. (Thilo), Dumont, M. (Martine), Ehrencrona, H. (Hans), Ejlertsen, B. (Bent), Ellis, S.D. (Steve), Engel, C. (Christoph), Lee, E. (Eunjung), Evans, D.G. (D. Gareth), Fasching, P.A. (Peter), Feliubadaló, L. (L.), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Foretova, L. (Lenka), Fostira, F. (Florentia), Foulkes, W.D. (William), Fridley, B.L. (Brooke), Friedman, E. (Eitan), Frost, D. (Debra), Gambino, G. (Gaetana), Ganz, P.A. (Patricia A.), Garber, J. (Judy), García-Closas, M. (Montserrat), Gentry-Maharaj, A. (Aleksandra), Ghoussaini, M. (Maya), Giles, G.G. (Graham), Glasspool, R. (Rosalind), Godwin, A.K. (Andrew K.), Goldberg, M.S. (Mark), Goldgar, D. (David), González-Neira, A. (Anna), Goode, E.L. (Ellen), Goodman, M.T. (Marc), Greene, M.H. (Mark H.), Gronwald, J. (Jacek), Guénel, P. (Pascal), Haiman, C.A. (Christopher A.), Hall, P. (Per), Hallberg, E. (Emily), Hamann, U. (Ute), Hansen, T.V.O. (Thomas), harrington, P. (Patricia), Hartman, J.M. (Joost), Hassan, N. (Norhashimah), Healey, S. (Sue), Heitz, P.U., Herzog, J. (Josef), Høgdall, E. (Estrid), Høgdall, C.K. (Claus), Hogervorst, F.B.L. (Frans), Hollestelle, A. (Antoinette), Hopper, J.L. (John), Hulick, P.J. (Peter), Huzarski, T. (Tomasz), Imyanitov, E.N. (Evgeny), Isaacs, C. (Claudine), Ito, H. (Hidemi), Jakubowska, A. (Anna), Janavicius, R. (Ramunas), Jensen, A. (Allan), John, E.M. (Esther), Johnson, N. (Nichola), Kabisch, M. (Maria), Kang, D. (Daehee), Kapuscinski, M.K. (Miroslav K.), Karlan, B.Y. (Beth Y.), Khan, S. (Sofia), Kiemeney, L.A.L.M. (Bart), Kjaer, M. (Michael), Knight, J.A. (Julia), Konstantopoulou, I. (I.), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Kupryjanczyk, J. (Jolanta), Kwong, A. (Ava), Hoya, M. (Miguel) de La, Laitman, Y. (Yael), Lambrechts, D. (Diether), Le, N.D. (Nhu D.), De Leeneer, K. (Kim), Lester, K.J. (Kathryn), Levine, D.A. (Douglas), Li, J. (Jingmei), Lindblom, A. (Annika), Long, J. (Jirong), Lophatananon, A. (Artitaya), Loud, J.T. (Jennifer), Lu, K.H. (Karen), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Le Marchand, L. (Loic), Margolin, S. (Sara), Marme, F. (Frederick), Massuger, L.F. (Leon), Matsuo, K. (Keitaro), Mazoyer, S. (Sylvie), McGuffog, L. (Lesley), McLean, C.A. (Catriona Ann), McNeish, I. (Iain), Meindl, A. (Alfons), Menon, U. (Usha), Mensenkamp, A.R. (Arjen R.), Milne, R.L. (Roger), Montagna, M. (Marco), Moysich, K.B. (Kirsten), Muir, K.R. (K.), Mulligan, A.-M. (Anna-Marie), Nathanson, K.L. (Katherine), Ness, R.B. (Roberta), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Nord, S. (Silje), Nussbaum, R.L. (Robert L.), Odunsi, K. (Kunle), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olufunmilayo I.), Olson, J.E. (Janet), Olswold, C. (Curtis), O'Malley, D.M. (David M.), Orlow, I. (Irene), Orr, N. (Nick), Osorio, A. (Ana), Park, S.K. (Sue Kyung), Pearce, C.L. (Celeste), Pejovic, T. (Tanja), Peterlongo, P. (Paolo), Pfeiler, G. (Georg), Phelan, C. (Catherine), Poole, E.M. (Elizabeth), Pykäs, K. (Katri), Radice, P. (Paolo), Rantala, J. (Johanna), Rashid, M.U. (Muhammad), Rennert, G. (Gad), Rhenius, V. (Valerie), Rhiem, K. (Kerstin), Risch, H. (Harvey), Rodriguez, G.C. (Gustavo), Rossing, M.A. (Mary Anne), Rudolph, A. (Anja), Salvesen, H.B. (Helga), Sangrajrang, S. (Suleeporn), Sawyer, E.J. (Elinor J.), Schildkraut, J.M. (Joellen), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Sellers, T.A. (Thomas A.), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Shen, C.-Y. (Chen-Yang), Shu, X.-O. (Xiao-Ou), Sieh, W. (Weiva), Singer, C.F. (Christian), Sinilnikova, O. (Olga), Slager, S. (Susan), Song, H. (Honglin), Soucy, P. (Penny), Southey, M.C. (Melissa), Stenmark-Askmalm, M. (Marie), Stoppa-Lyonnet, D. (Dominique), Sutter, C. (Christian), Swerdlow, A.J. (Anthony ), Tchatchou, S. (Sandrine), Teixeira, P.J., Teo, S.-H. (Soo-Hwang), Terry, K.L. (Kathryn), Terry, M.B. (Mary Beth), Thomassen, M. (Mads), Tibiletti, M.G. (Maria Grazia), Tihomirova, L. (Laima), Tognazzo, S. (Silvia), Toland, A.E. (Amanda), Tomlinson, I.P. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Tseng, C.-C. (Chiu-Chen), Tung, N. (Nadine), Tworoger, S.S. (Shelley S.), Vachon, C. (Celine), Van Den Ouweland, A.M.W. (Ans M.W.), Van Doorn, H.C. (Helena C.), Rensburg, E.J. (Elizabeth) van, Veer, L.J. (Laura) van 't, Vanderstichele, A. (Adriaan), Vergote, I. (Ignace), Vijai, J. (Joseph), Wang, Q. (Qin), Wang-Gohrke, S. (Shan), Weitzel, J.N. (Jeffrey), Wentzensen, N. (N.), Whittemore, A.S. (Alice), Wildiers, H. (Hans), Winqvist, R. (Robert), Wu, A.H. (Anna), Yannoukakos, D. (Drakoulis), Yoon, S.-Y. (Sook-Yee), Yu, J-C. (Jyh-Cherng), Zheng, W. (Wei), Zheng, Y. (Ying), Khanna, K.K. (Kum Kum), Simard, J. (Jacques), Monteiro, A.N.A. (Alvaro N.), French, J.D. (Juliet), Couch, F.J. (Fergus), Freedman, M. (Matthew), Easton, D.F. (Douglas F.), Dunning, A.M. (Alison), Pharoah, P.D.P. (Paul), Edwards, S.L. (Stacey), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Gayther, S.A. (Simon), Bowtell, D. (David), DeFazio, A. (Anna), Webb, P. (Penny), Collonge-Rame, M.-A., Damette, A. (Alexandre), Barouk-Simonet, E. (Emmanuelle), Bonnet, F. (Françoise), Bubien, V. (Virginie), Sevenet, N. (Nicolas), Longy, M. (Michel), Berthet, P. (Pascaline), Vaur, D. (Dominique), Castera, L. (Laurent), Ferrer, S.F., Bignon, Y.-J. (Yves-Jean), Uhrhammer, N. (Nancy), Coron, F. (Fanny), Faivre, L. (Laurence), Baurand, A. (Amandine), Jacquot, C. (Caroline), Bertolone, G. (Geoffrey), Lizard, S. (Sarab), Leroux, D. (Dominique), Dreyfus, H. (Hélène), Rebischung, C. (Christine), Peysselon, M. (Magalie), Peyrat, J.-P., Fournier, J. (Joëlle), Révillion, F. (Françoise), Adenis, C. (Claude), Vénat-Bouvet, L. (Laurence), Léone, M. (Mélanie), Boutry-Kryza, N. (N.), Calender, A. (Alain), Giraud, S. (Sophie), Verny-Pierre, C. (Carole), Lasset, C. (Christine), Bonadona, V. (Valérie), Barjhoux, L. (Laure), Sobol, H. (Hagay), Bourdon, V. (Violaine), Noguchi, T. (Tetsuro), Remenieras, A. (Audrey), Coupier, I. (Isabelle), Pujol, P. (Pascal), Sokolowska, J. (Johanna), Bronner, M. (Myriam), Delnatte, C.D. (Capucine), Bézieau, S. (Stéphane), Mari, V. (Véronique), Gauthier-Villars, M. (Marion), Buecher, B. (Bruno), Rouleau, E. (Etienne), Golmard, L. (Lisa), Moncoutier, V. (Virginie), Belotti, M. (Muriel), Pauw, A. (Antoine) de, Elan, C. (Camille), Fourme, E. (Emmanuelle), Birot, A.-M. (Anne-Marie), Saule, C. (Claire), Laurent, M. (Maïté), Houdayer, C. (Claude), Lesueur, F. (Fabienne), Mebirouk, N. (Noura), Coulet, F. (Florence), Colas, C. (Chrystelle), Soubrier, F., Warcoin, M. (Mathilde), Prieur, F. (Fabienne), Lebrun, M. (Marine), Kientz, C. (Caroline), Muller, D.W. (Danièle), Fricker, J.P. (Jean Pierre), Toulas, C. (Christine), Guimbaud, R. (Rosine), Gladieff, L. (Laurence), Feillel, V. (Viviane), Mortemousque, I. (Isabelle), Bressac-de Paillerets, B. (Brigitte), Caron, O. (Olivier), Guillaud-Bataille, M. (Marine), Gregory, H. (Helen), Miedzybrodzka, Z. (Zosia), Morrison, P.J. (Patrick), Donaldson, A. (Alan), Rogers, M.T. (Mark), Kennedy, M.J. (John), Porteous, M.E. (Mary), Brady, A. (A.), Barwell, J. (Julian), Foo, C. (Claire), Lalloo, F. (Fiona), Side, L. (Lucy), Eason, J. (Jacqueline), Henderson, A. (Alex), Walker, L.J. (Lisa), Cook, J. (Jackie), Snape, K. (Katie), Murray, A. (Alexandra), McCann, E. (Emma), Rookus, M.A. (Matti), Leeuwen, F.E. (Flora) van, Kolk, L.E. (Lizet) van der, Russell, N.S. (Nicola), Lange, J.L. (J.) de, Wijnands, R., Collée, J.M. (Margriet), Hooning, M.J. (Maartje), Seynaeve, C., Deurzen, C.H.M. (Carolien) van, Obdeijn, A.I.M. (Inge-Marie), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Cronenburg, T.C.T.E.F. van, Kets, C.M. (Marleen), Ausems, M.G.E.M. (Margreet), Pol, C. (Carmen) van der, Os, T.A.M. (Theo) van, Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Gómez García, E.B. (Encarna), Oosterwijk, J.C. (Jan), Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Vasen, H. (Hans), Siesling, S., Verloop, J., Overbeek, L.I.H. (Lucy), Fox, S.B. (Stephen), Kirk, J. (Judy), Lindeman, G.J. (Geoffrey), Price, M. (Melanie), Lawrenson, K. (Kate), Kar, S. (Siddhartha), McCue, K. (Karen), Kuchenbaeker, K. (Karoline), Michailidou, K. (Kyriaki), Tyrer, J.P. (Jonathan), Beesley, J. (Jonathan), Ramus, S.J. (Susan), Li, Q. (Qiyuan), Delgado, M.K. (Melissa K.), Lee, J.M. (Janet M.), Aittomäki, K. (Kristiina), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Arun, B.K. (Banu), Arver, B. (Brita Wasteson), Bandera, E.V. (Elisa), Barile, M. (Monica), Barkardottir, R.B. (Rosa B.), Barrowdale, D. (Daniel), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Berchuck, A. (Andrew), Bisogna, M. (Maria), Bjorge, L. (Line), Blomqvist, C. (Carl), Blot, W.J. (William), Bogdanova, N.V. (Natalia), Bojesen, A. (Anders), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet K.), Bonnani, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brennan, P. (Paul), Brenner, H. (Hermann), Bruinsma, F. (Fiona), Brunet, J. (Joan), Buhari, S.A.B.S. (Shaik Ahmad Bin Syed), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Buys, S.S. (Saundra), Cai, Q. (Qiuyin), Caldes, T. (Trinidad), Campbell, I. (Ian), Canniotto, R. (Rikki), Chang-Claude, J. (Jenny), Chiquette, J. (Jocelyne), Choi, J.-Y. (Ji-Yeob), Claes, K.B.M. (Kathleen B.M.), Cook, L.S. (Linda S.), Cox, A. (Angela), Cramer, D.W. (Daniel), Cross, S.S. (Simon), Cybulski, C. (Cezary), Czene, K. (Kamila), Daly, M.B. (Mary B.), Damiola, F. (Francesca), Dansonka-Mieszkowska, A. (Agnieszka), Darabi, H. (Hatef), Dennis, J. (Joe), Devilee, P. (Peter), Díez, O. (Orland), Doherty, J.A. (Jennifer A.), Domchek, S.M. (Susan), Dorfling, C.M. (Cecilia), Dörk, T. (Thilo), Dumont, M. (Martine), Ehrencrona, H. (Hans), Ejlertsen, B. (Bent), Ellis, S.D. (Steve), Engel, C. (Christoph), Lee, E. (Eunjung), Evans, D.G. (D. Gareth), Fasching, P.A. (Peter), Feliubadaló, L. (L.), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Foretova, L. (Lenka), Fostira, F. (Florentia), Foulkes, W.D. (William), Fridley, B.L. (Brooke), Friedman, E. (Eitan), Frost, D. (Debra), Gambino, G. (Gaetana), Ganz, P.A. (Patricia A.), Garber, J. (Judy), García-Closas, M. (Montserrat), Gentry-Maharaj, A. (Aleksandra), Ghoussaini, M. (Maya), Giles, G.G. (Graham), Glasspool, R. (Rosalind), Godwin, A.K. (Andrew K.), Goldberg, M.S. (Mark), Goldgar, D. (David), González-Neira, A. (Anna), Goode, E.L. (Ellen), Goodman, M.T. (Marc), Greene, M.H. (Mark H.), Gronwald, J. (Jacek), Guénel, P. (Pascal), Haiman, C.A. (Christopher A.), Hall, P. (Per), Hallberg, E. (Emily), Hamann, U. (Ute), Hansen, T.V.O. (Thomas), harrington, P. (Patricia), Hartman, J.M. (Joost), Hassan, N. (Norhashimah), Healey, S. (Sue), Heitz, P.U., Herzog, J. (Josef), Høgdall, E. (Estrid), Høgdall, C.K. (Claus), Hogervorst, F.B.L. (Frans), Hollestelle, A. (Antoinette), Hopper, J.L. (John), Hulick, P.J. (Peter), Huzarski, T. (Tomasz), Imyanitov, E.N. (Evgeny), Isaacs, C. (Claudine), Ito, H. (Hidemi), Jakubowska, A. (Anna), Janavicius, R. (Ramunas), Jensen, A. (Allan), John, E.M. (Esther), Johnson, N. (Nichola), Kabisch, M. (Maria), Kang, D. (Daehee), Kapuscinski, M.K. (Miroslav K.), Karlan, B.Y. (Beth Y.), Khan, S. (Sofia), Kiemeney, L.A.L.M. (Bart), Kjaer, M. (Michael), Knight, J.A. (Julia), Konstantopoulou, I. (I.), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Kupryjanczyk, J. (Jolanta), Kwong, A. (Ava), Hoya, M. (Miguel) de La, Laitman, Y. (Yael), Lambrechts, D. (Diether), Le, N.D. (Nhu D.), De Leeneer, K. (Kim), Lester, K.J. (Kathryn), Levine, D.A. (Douglas), Li, J. (Jingmei), Lindblom, A. (Annika), Long, J. (Jirong), Lophatananon, A. (Artitaya), Loud, J.T. (Jennifer), Lu, K.H. (Karen), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Le Marchand, L. (Loic), Margolin, S. (Sara), Marme, F. (Frederick), Massuger, L.F. (Leon), Matsuo, K. (Keitaro), Mazoyer, S. (Sylvie), McGuffog, L. (Lesley), McLean, C.A. (Catriona Ann), McNeish, I. (Iain), Meindl, A. (Alfons), Menon, U. (Usha), Mensenkamp, A.R. (Arjen R.), Milne, R.L. (Roger), Montagna, M. (Marco), Moysich, K.B. (Kirsten), Muir, K.R. (K.), Mulligan, A.-M. (Anna-Marie), Nathanson, K.L. (Katherine), Ness, R.B. (Roberta), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Nord, S. (Silje), Nussbaum, R.L. (Robert L.), Odunsi, K. (Kunle), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olufunmilayo I.), Olson, J.E. (Janet), Olswold, C. (Curtis), O'Malley, D.M. (David M.), Orlow, I. (Irene), Orr, N. (Nick), Osorio, A. (Ana), Park, S.K. (Sue Kyung), Pearce, C.L. (Celeste), Pejovic, T. (Tanja), Peterlongo, P. (Paolo), Pfeiler, G. (Georg), Phelan, C. (Catherine), Poole, E.M. (Elizabeth), Pykäs, K. (Katri), Radice, P. (Paolo), Rantala, J. (Johanna), Rashid, M.U. (Muhammad), Rennert, G. (Gad), Rhenius, V. (Valerie), Rhiem, K. (Kerstin), Risch, H. (Harvey), Rodriguez, G.C. (Gustavo), Rossing, M.A. (Mary Anne), Rudolph, A. (Anja), Salvesen, H.B. (Helga), Sangrajrang, S. (Suleeporn), Sawyer, E.J. (Elinor J.), Schildkraut, J.M. (Joellen), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Sellers, T.A. (Thomas A.), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Shen, C.-Y. (Chen-Yang), Shu, X.-O. (Xiao-Ou), Sieh, W. (Weiva), Singer, C.F. (Christian), Sinilnikova, O. (Olga), Slager, S. (Susan), Song, H. (Honglin), Soucy, P. (Penny), Southey, M.C. (Melissa), Stenmark-Askmalm, M. (Marie), Stoppa-Lyonnet, D. (Dominique), Sutter, C. (Christian), Swerdlow, A.J. (Anthony ), Tchatchou, S. (Sandrine), Teixeira, P.J., Teo, S.-H. (Soo-Hwang), Terry, K.L. (Kathryn), Terry, M.B. (Mary Beth), Thomassen, M. (Mads), Tibiletti, M.G. (Maria Grazia), Tihomirova, L. (Laima), Tognazzo, S. (Silvia), Toland, A.E. (Amanda), Tomlinson, I.P. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Tseng, C.-C. (Chiu-Chen), Tung, N. (Nadine), Tworoger, S.S. (Shelley S.), Vachon, C. (Celine), Van Den Ouweland, A.M.W. (Ans M.W.), Van Doorn, H.C. (Helena C.), Rensburg, E.J. (Elizabeth) van, Veer, L.J. (Laura) van 't, Vanderstichele, A. (Adriaan), Vergote, I. (Ignace), Vijai, J. (Joseph), Wang, Q. (Qin), Wang-Gohrke, S. (Shan), Weitzel, J.N. (Jeffrey), Wentzensen, N. (N.), Whittemore, A.S. (Alice), Wildiers, H. (Hans), Winqvist, R. (Robert), Wu, A.H. (Anna), Yannoukakos, D. (Drakoulis), Yoon, S.-Y. (Sook-Yee), Yu, J-C. (Jyh-Cherng), Zheng, W. (Wei), Zheng, Y. (Ying), Khanna, K.K. (Kum Kum), Simard, J. (Jacques), Monteiro, A.N.A. (Alvaro N.), French, J.D. (Juliet), Couch, F.J. (Fergus), Freedman, M. (Matthew), Easton, D.F. (Douglas F.), Dunning, A.M. (Alison), Pharoah, P.D.P. (Paul), Edwards, S.L. (Stacey), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Gayther, S.A. (Simon), Bowtell, D. (David), DeFazio, A. (Anna), Webb, P. (Penny), Collonge-Rame, M.-A., Damette, A. (Alexandre), Barouk-Simonet, E. (Emmanuelle), Bonnet, F. (Françoise), Bubien, V. (Virginie), Sevenet, N. (Nicolas), Longy, M. (Michel), Berthet, P. (Pascaline), Vaur, D. (Dominique), Castera, L. (Laurent), Ferrer, S.F., Bignon, Y.-J. (Yves-Jean), Uhrhammer, N. (Nancy), Coron, F. (Fanny), Faivre, L. (Laurence), Baurand, A. (Amandine), Jacquot, C. (Caroline), Bertolone, G. (Geoffrey), Lizard, S. (Sarab), Leroux, D. (Dominique), Dreyfus, H. (Hélène), Rebischung, C. (Christine), Peysselon, M. (Magalie), Peyrat, J.-P., Fournier, J. (Joëlle), Révillion, F. (Françoise), Adenis, C. (Claude), Vénat-Bouvet, L. (Laurence), Léone, M. (Mélanie), Boutry-Kryza, N. (N.), Calender, A. (Alain), Giraud, S. (Sophie), Verny-Pierre, C. (Carole), Lasset, C. (Christine), Bonadona, V. (Valérie), Barjhoux, L. (Laure), Sobol, H. (Hagay), Bourdon, V. (Violaine), Noguchi, T. (Tetsuro), Remenieras, A. (Audrey), Coupier, I. (Isabelle), Pujol, P. (Pascal), Sokolowska, J. (Johanna), Bronner, M. (Myriam), Delnatte, C.D. (Capucine), Bézieau, S. (Stéphane), Mari, V. (Véronique), Gauthier-Villars, M. (Marion), Buecher, B. (Bruno), Rouleau, E. (Etienne), Golmard, L. (Lisa), Moncoutier, V. (Virginie), Belotti, M. (Muriel), Pauw, A. (Antoine) de, Elan, C. (Camille), Fourme, E. (Emmanuelle), Birot, A.-M. (Anne-Marie), Saule, C. (Claire), Laurent, M. (Maïté), Houdayer, C. (Claude), Lesueur, F. (Fabienne), Mebirouk, N. (Noura), Coulet, F. (Florence), Colas, C. (Chrystelle), Soubrier, F., Warcoin, M. (Mathilde), Prieur, F. (Fabienne), Lebrun, M. (Marine), Kientz, C. (Caroline), Muller, D.W. (Danièle), Fricker, J.P. (Jean Pierre), Toulas, C. (Christine), Guimbaud, R. (Rosine), Gladieff, L. (Laurence), Feillel, V. (Viviane), Mortemousque, I. (Isabelle), Bressac-de Paillerets, B. (Brigitte), Caron, O. (Olivier), Guillaud-Bataille, M. (Marine), Gregory, H. (Helen), Miedzybrodzka, Z. (Zosia), Morrison, P.J. (Patrick), Donaldson, A. (Alan), Rogers, M.T. (Mark), Kennedy, M.J. (John), Porteous, M.E. (Mary), Brady, A. (A.), Barwell, J. (Julian), Foo, C. (Claire), Lalloo, F. (Fiona), Side, L. (Lucy), Eason, J. (Jacqueline), Henderson, A. (Alex), Walker, L.J. (Lisa), Cook, J. (Jackie), Snape, K. (Katie), Murray, A. (Alexandra), McCann, E. (Emma), Rookus, M.A. (Matti), Leeuwen, F.E. (Flora) van, Kolk, L.E. (Lizet) van der, Russell, N.S. (Nicola), Lange, J.L. (J.) de, Wijnands, R., Collée, J.M. (Margriet), Hooning, M.J. (Maartje), Seynaeve, C., Deurzen, C.H.M. (Carolien) van, Obdeijn, A.I.M. (Inge-Marie), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Cronenburg, T.C.T.E.F. van, Kets, C.M. (Marleen), Ausems, M.G.E.M. (Margreet), Pol, C. (Carmen) van der, Os, T.A.M. (Theo) van, Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Gómez García, E.B. (Encarna), Oosterwijk, J.C. (Jan), Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Vasen, H. (Hans), Siesling, S., Verloop, J., Overbeek, L.I.H. (Lucy), Fox, S.B. (Stephen), Kirk, J. (Judy), Lindeman, G.J. (Geoffrey), and Price, M. (Melanie)
Abstract: A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.
Published: 2016
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11. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

Author: Hollestelle, A. (Antoinette), Baan, F.H. (Frederieke) van der, Berchuck, A. (Andrew), Johnatty, S.E. (Sharon), Aben, K.K.H. (Katja), Agnarsson, B.A. (Bjarni), Aittomäki, K. (Kristiina), Alducci, E. (Elisa), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Antonenkova, N.N. (Natalia), Antoniou, A.C. (Antonis), Apicella, C. (Carmel), Arndt, V. (Volker), Arnold, N. (Norbert), Arun, B.K. (Banu), Arver, B. (Brita Wasteson), Ashworth, A. (Alan), Baglietto, L. (Laura), Balleine, R. (Rosemary), Bandera, E.V. (Elisa), Barrowdale, D. (Daniel), Bean, Y.T. (Yukie), Beckmann, L. (Lars), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Berger, A. (Andreas), Berger, R. (Raanan), Beuselinck, B. (B.), Bisogna, M. (Maria), Bjorge, L. (Line), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Bojesen, A. (Anders), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet), Bonnani, B. (Bernardo), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L.A. (Louise), Brooks-Wilson, A. (Angela), Bruinsma, F. (Fiona), Brunet, J. (Joan), Brüning, T. (Thomas), Budzilowska, A. (Agnieszka), Bunker, C.H. (Clareann H.), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Buys, S.S. (Saundra S.), Caligo, M.A. (Maria), Campbell, I. (Ian), Carter, J. (Jonathan), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen J.), Claes, K.B.M. (Kathleen B.M.), Collée, J.M. (Margriet), Cook, L.S. (Linda S.), Couch, F.J. (Fergus), Cox, A. (Angela), Cramer, D.W. (Daniel), Cross, S.S. (Simon), Cunningham, J.M. (Julie), Cybulski, C. (Cezary), Czene, K. (Kamila), Damiola, F. (Francesca), Dansonka-Mieszkowska, A. (Agnieszka), Darabi, H. (Hatef), Hoya, M. (Miguel) de La, DeFazio, A. (Anna), Dennis, J. (Joe), Devilee, P. (Peter), Dicks, E. (Ed), Díez, O. (Orland), Doherty, J.A. (Jennifer A.), Domchek, S.M. (Susan), Dorfling, C.M. (Cecilia), Dörk, T. (Thilo), Santos Silva, I. (Isabel) dos, Du Bois, A. (Andreas), Dumont, M. (Martine), Dunning, A.M. (Alison), Duran, M. (Mercedes), Easton, D.F. (Douglas F.), Eccles, D. (Diana), Edwards, R. (Robert), Ehrencrona, H. (Hans), Ejlertsen, B. (Bent), Ekici, A.B. (Arif), Ellis, S.D. (Steve), Engel, C. (Christoph), Eriksson, M. (Mikael), Fasching, P.A. (Peter), Feliubadaló, L. (L.), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Fontaine, A. (Annette), Fortuzzi, S. (S.), Fostira, F. (Florentia), Fridley, B.L. (Brooke), Friebel, M.O.W. (Mark ), Friedman, E. (Eitan), Friel, G. (Grace), Frost, D. (Debra), Garber, J. (Judy), García-Closas, M. (Montserrat), Gayther, S.A. (Simon), Gentry-Maharaj, A. (Aleksandra), Gerdes, A-M. (Anne-Marie), Giles, G.G. (Graham), Glasspool, R. (Rosalind), Glendon, G. (Gord), Godwin, A.K. (Andrew K.), Goodman, M.T. (Marc T.), Gore, M. (Martin), Greene, M.H. (Mark H.), Grip, M. (Mervi), Gronwald, J. (Jacek), Gschwantler-Kaulich, D. (Daphne), Guénel, P. (Pascal), Guzman, S.R. (Starr R.), Haeberle, L. (Lothar), Haiman, C.A. (Christopher A.), Hall, P. (Per), Halverson, S.L. (Sandra L.), Hamann, U. (Ute), Hansen, T.V.O. (Thomas), Harter, P. (Philipp), Hartikainen, J.M. (J.), Healey, S. (Sue), Hein, R. (Rebecca), Heitz, P.U., Henderson, B.E. (Brian), Herzog, J. (Josef), Hildebrandt, M.A.T. (Michelle), Høgdall, C.K. (Claus), Høgdall, E. (Estrid), Hogervorst, F.B.L. (Frans), Hopper, J.L. (John), Humphreys, K. (Keith), Huzarski, T. (Tomasz), Imyanitov, E.N. (Evgeny N.), Isaacs, C. (Claudine), Jakubowska, A. (Anna), Janavicius, R. (Ramunas), Jaworska, K. (Katarzyna), Jensen, A. (Allan), Jensen, U.B., Johnson, N. (Nichola), Jukkola-Vuorinen, A. (Arja), Kabisch, M. (Maria), Karlan, B.Y. (Beth Y.), Kataja, V. (Vesa), Kauff, N. (Noah), Kelemen, L.E. (Linda), Kerin, M. (Michael), Kiemeney, L.A.L.M. (Bart), Kjaer, M. (Michael), Knight, J.A. (Julia), Knol-Bout, J.P. (Jacoba P.), Konstantopoulou, I. (I.), Kosma, V-M. (Veli-Matti), Krakstad, C. (Camilla), Kristensen, V. (Vessela), Kuchenbaecker, K.B. (Karoline), Kupryjanczyk, J. (Jolanta), Laitman, Y. (Yael), Lambrechts, D. (Diether), Lambrechts, S. (Sandrina), Larson, M.C. (Melissa), Lasa, A. (Adriana), Laurent-Puig, P. (Pierre), Lázaro, C. (Conxi), Le, N. (Nhu), Le Marchand, L. (Loic), Leminen, A. (Arto), Lester, K.J. (Kathryn), Levine, D.A. (Douglas), Li, J. (Jingmei), Liang, D. (Dong), Lindblom, A. (Annika), Lindor, N.M. (Noralane), Lissowska, J. (Jolanta), Long, J. (Jirong), Lu, K.H. (Karen), Lubinski, J. (Jan), Lundvall, L. (Lene), Lurie, G. (Galina), Mai, P.L. (Phuong), Mannermaa, A. (Arto), Margolin, S. (Sara), Mariette, F. (F.), Marme, F. (Federick), Martens, J.W.M. (John), Massuger, L.F. (Leon), Maugard, C., Mazoyer, S. (Sylvie), McGuffog, L. (Lesley), McGuire, W.P., McLean, C.A. (Catriona Ann), McNeish, I. (Iain), Meindl, A. (Alfons), Menegaux, F. (Florence), Menéndez, P. (Primitiva), Menkiszak, J. (Janusz), Menon, U. (Usha), Mensenkamp, A.R. (Arjen), Miller, N. (Nicola), Milne, R.L. (Roger), Modugno, F. (Francesmary), Montagna, M. (Marco), Moysich, K.B. (Kirsten B.), Müller, H. (Heiko), Mulligan, A.-M. (Anna-Marie), Muranen, T.A. (Taru), Narod, S.A. (Steven A.), Nathanson, K.L. (Katherine), Ness, R.B. (Roberta B.), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, F. (Finn), Nielsen, S.F. (Sune), Nordestgaard, B.G. (Børge), Nussbaum, R. (Robert), Odunsi, K. (Kunle), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olufunmilayo I.), Olson, J.E. (Janet), Olson, S.H. (Sara), Oosterwijk, J.C. (Jan), Orlow, I. (Irene), Orr, N. (Nick), Orsulic, S. (Sandra), Osorio, A. (Ana), Ottini, L. (Laura), Paul, J. (James), Pearce, C.L. (Celeste), Pedersen, I.S. (Inge Sokilde), Peissel, B. (Bernard), Pejovic, T. (Tanja), Pelttari, L.M. (Liisa), Perkins, J. (Jo), Permuth-Wey, J. (Jenny), Peterlongo, P. (Paolo), Peto, J. (Julian), Phelan, C. (Catherine), Phillips, K.-A. (Kelly-Anne), Piedmonte, M. (Marion), Pike, M.C. (Malcolm C.), Platte, R. (Radka), Plisiecka-Halasa, J. (Joanna), Poole, E.M. (Elizabeth), Poppe, B. (Bruce), Pykäs, K. (Katri), Radice, P. (Paolo), Ramus, S.J. (Susan), Rebbeck, R. (Timothy), Reed, M.W.R. (Malcolm W.R.), Rennert, G. (Gad), Risch, H. (Harvey), Robson, M. (Mark), Rodriguez, G. (Gustavo), Romero, A. (Atocha), Rossing, M.A. (Mary Anne), Rothstein, J.H. (Joseph H.), Rudolph, A. (Anja), Runnebaum, I.B. (Ingo), Salani, R. (Ritu), Salvesen, H.B. (Helga), Sawyer, E.J. (Elinor), Schildkraut, J.M. (Joellen), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Schneeweiss, A. (Andreas), Schoemaker, M. (Minouk), Schrauder, A. (André), Schumacher, F.R. (Fredrick), Schwaab, I. (Ira), Scuvera, G. (Giulietta), Sellers, T.A. (Thomas A.), Severi, G. (Gianluca), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Shrubsole, M. (Martha), Siddiqui, N. (Nadeem), Sieh, W. (Weiva), Simard, J. (Jacques), Singer, C.F. (Christian), Sinilnikova, O. (Olga), Smeets, D. (Dominiek), Sohn, C. (Christof), Soller, M. (Maria), Song, H. (Honglin), Soucy, P. (Penny), Southey, M.C. (Melissa), Stegmaier, C. (Christa), Stoppa-Lyonnet, D. (Dominique), Sucheston, L. (Lara), Swerdlow, A.J. (Anthony ), Tangen, I.L. (Ingvild L.), Tea, M.-K., Teixeira, P.J., Terry, K.L. (Kathryn), Terry, M.B. (Mary Beth), Thomassen, M. (Mads), Thompson, P.J. (Pamela J.), Tihomirova, L. (Laima), Tischkowitz, M. (Marc), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Tsimiklis, H. (Helen), Tung, N. (Nadine), Tworoger, S. (Shelley), Tyrer, J.P. (Jonathan), Vachon, C. (Celine), Veer, L.J. (Laura) van 't, Altena, A.M. (Anne) van, Asperen, C.J. (Christi) van, Van Den Berg, D. (David), Ouweland, A.M.W. (Ans) van den, Doorn, H.C. (Lena) van, Van Nieuwenhuysen, E. (Els), Rensburg, E.J. (Elizabeth) van, Vergote, I. (Ignace), Verhoef, S., Vierkant, R.A. (Robert), Vijai, J. (Joseph), Vitonis, A.F. (Allison), Wachenfeldt, A. (Anna) von, Walsh, C.S. (Christine), Wang, Q. (Qing), Wang-Gohrke, S. (Shan), Wapenschmidt, B. (Barbara), Weischer, M. (Maren), Weitzel, J.N. (Jeffrey), Weltens, C. (Caroline), Wentzensen, N. (N.), Whittemore, A.S. (Alice S.), Wilkens, L.R. (Lynne R.), Winqvist, R. (Robert), Wu, A.H. (Anna), Wu, X. (Xifeng), Yang, H.P. (Hannah P.), Zaffaroni, D. (Daniela), Zamora, M.P. (Pilar), Zheng, W. (Wei), Ziogas, A. (Argyrios), Chenevix-Trench, G. (Georgia), Pharoah, P.D.P. (Paul), Rookus, M.A. (Matti), Hooning, M.J. (Maartje), Goode, E.L. (Ellen L.), Breast Cancer Family Register, EMBRACE, GENICA Network, HEBON, SWE-BRCA, Hollestelle, A. (Antoinette), Baan, F.H. (Frederieke) van der, Berchuck, A. (Andrew), Johnatty, S.E. (Sharon), Aben, K.K.H. (Katja), Agnarsson, B.A. (Bjarni), Aittomäki, K. (Kristiina), Alducci, E. (Elisa), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Antonenkova, N.N. (Natalia), Antoniou, A.C. (Antonis), Apicella, C. (Carmel), Arndt, V. (Volker), Arnold, N. (Norbert), Arun, B.K. (Banu), Arver, B. (Brita Wasteson), Ashworth, A. (Alan), Baglietto, L. (Laura), Balleine, R. (Rosemary), Bandera, E.V. (Elisa), Barrowdale, D. (Daniel), Bean, Y.T. (Yukie), Beckmann, L. (Lars), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Berger, A. (Andreas), Berger, R. (Raanan), Beuselinck, B. (B.), Bisogna, M. (Maria), Bjorge, L. (Line), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Bojesen, A. (Anders), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet), Bonnani, B. (Bernardo), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L.A. (Louise), Brooks-Wilson, A. (Angela), Bruinsma, F. (Fiona), Brunet, J. (Joan), Brüning, T. (Thomas), Budzilowska, A. (Agnieszka), Bunker, C.H. (Clareann H.), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Buys, S.S. (Saundra S.), Caligo, M.A. (Maria), Campbell, I. (Ian), Carter, J. (Jonathan), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen J.), Claes, K.B.M. (Kathleen B.M.), Collée, J.M. (Margriet), Cook, L.S. (Linda S.), Couch, F.J. (Fergus), Cox, A. (Angela), Cramer, D.W. (Daniel), Cross, S.S. (Simon), Cunningham, J.M. (Julie), Cybulski, C. (Cezary), Czene, K. (Kamila), Damiola, F. (Francesca), Dansonka-Mieszkowska, A. (Agnieszka), Darabi, H. (Hatef), Hoya, M. (Miguel) de La, DeFazio, A. (Anna), Dennis, J. (Joe), Devilee, P. (Peter), Dicks, E. (Ed), Díez, O. (Orland), Doherty, J.A. (Jennifer A.), Domchek, S.M. (Susan), Dorfling, C.M. (Cecilia), Dörk, T. (Thilo), Santos Silva, I. (Isabel) dos, Du Bois, A. (Andreas), Dumont, M. (Martine), Dunning, A.M. (Alison), Duran, M. (Mercedes), Easton, D.F. (Douglas F.), Eccles, D. (Diana), Edwards, R. (Robert), Ehrencrona, H. (Hans), Ejlertsen, B. (Bent), Ekici, A.B. (Arif), Ellis, S.D. (Steve), Engel, C. (Christoph), Eriksson, M. (Mikael), Fasching, P.A. (Peter), Feliubadaló, L. (L.), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Fontaine, A. (Annette), Fortuzzi, S. (S.), Fostira, F. (Florentia), Fridley, B.L. (Brooke), Friebel, M.O.W. (Mark ), Friedman, E. (Eitan), Friel, G. (Grace), Frost, D. (Debra), Garber, J. (Judy), García-Closas, M. (Montserrat), Gayther, S.A. (Simon), Gentry-Maharaj, A. (Aleksandra), Gerdes, A-M. (Anne-Marie), Giles, G.G. (Graham), Glasspool, R. (Rosalind), Glendon, G. (Gord), Godwin, A.K. (Andrew K.), Goodman, M.T. (Marc T.), Gore, M. (Martin), Greene, M.H. (Mark H.), Grip, M. (Mervi), Gronwald, J. (Jacek), Gschwantler-Kaulich, D. (Daphne), Guénel, P. (Pascal), Guzman, S.R. (Starr R.), Haeberle, L. (Lothar), Haiman, C.A. (Christopher A.), Hall, P. (Per), Halverson, S.L. (Sandra L.), Hamann, U. (Ute), Hansen, T.V.O. (Thomas), Harter, P. (Philipp), Hartikainen, J.M. (J.), Healey, S. (Sue), Hein, R. (Rebecca), Heitz, P.U., Henderson, B.E. (Brian), Herzog, J. (Josef), Hildebrandt, M.A.T. (Michelle), Høgdall, C.K. (Claus), Høgdall, E. (Estrid), Hogervorst, F.B.L. (Frans), Hopper, J.L. (John), Humphreys, K. (Keith), Huzarski, T. (Tomasz), Imyanitov, E.N. (Evgeny N.), Isaacs, C. (Claudine), Jakubowska, A. (Anna), Janavicius, R. (Ramunas), Jaworska, K. (Katarzyna), Jensen, A. (Allan), Jensen, U.B., Johnson, N. (Nichola), Jukkola-Vuorinen, A. (Arja), Kabisch, M. (Maria), Karlan, B.Y. (Beth Y.), Kataja, V. (Vesa), Kauff, N. (Noah), Kelemen, L.E. (Linda), Kerin, M. (Michael), Kiemeney, L.A.L.M. (Bart), Kjaer, M. (Michael), Knight, J.A. (Julia), Knol-Bout, J.P. (Jacoba P.), Konstantopoulou, I. (I.), Kosma, V-M. (Veli-Matti), Krakstad, C. (Camilla), Kristensen, V. (Vessela), Kuchenbaecker, K.B. (Karoline), Kupryjanczyk, J. (Jolanta), Laitman, Y. (Yael), Lambrechts, D. (Diether), Lambrechts, S. (Sandrina), Larson, M.C. (Melissa), Lasa, A. (Adriana), Laurent-Puig, P. (Pierre), Lázaro, C. (Conxi), Le, N. (Nhu), Le Marchand, L. (Loic), Leminen, A. (Arto), Lester, K.J. (Kathryn), Levine, D.A. (Douglas), Li, J. (Jingmei), Liang, D. (Dong), Lindblom, A. (Annika), Lindor, N.M. (Noralane), Lissowska, J. (Jolanta), Long, J. (Jirong), Lu, K.H. (Karen), Lubinski, J. (Jan), Lundvall, L. (Lene), Lurie, G. (Galina), Mai, P.L. (Phuong), Mannermaa, A. (Arto), Margolin, S. (Sara), Mariette, F. (F.), Marme, F. (Federick), Martens, J.W.M. (John), Massuger, L.F. (Leon), Maugard, C., Mazoyer, S. (Sylvie), McGuffog, L. (Lesley), McGuire, W.P., McLean, C.A. (Catriona Ann), McNeish, I. (Iain), Meindl, A. (Alfons), Menegaux, F. (Florence), Menéndez, P. (Primitiva), Menkiszak, J. (Janusz), Menon, U. (Usha), Mensenkamp, A.R. (Arjen), Miller, N. (Nicola), Milne, R.L. (Roger), Modugno, F. (Francesmary), Montagna, M. (Marco), Moysich, K.B. (Kirsten B.), Müller, H. (Heiko), Mulligan, A.-M. (Anna-Marie), Muranen, T.A. (Taru), Narod, S.A. (Steven A.), Nathanson, K.L. (Katherine), Ness, R.B. (Roberta B.), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, F. (Finn), Nielsen, S.F. (Sune), Nordestgaard, B.G. (Børge), Nussbaum, R. (Robert), Odunsi, K. (Kunle), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olufunmilayo I.), Olson, J.E. (Janet), Olson, S.H. (Sara), Oosterwijk, J.C. (Jan), Orlow, I. (Irene), Orr, N. (Nick), Orsulic, S. (Sandra), Osorio, A. (Ana), Ottini, L. (Laura), Paul, J. (James), Pearce, C.L. (Celeste), Pedersen, I.S. (Inge Sokilde), Peissel, B. (Bernard), Pejovic, T. (Tanja), Pelttari, L.M. (Liisa), Perkins, J. (Jo), Permuth-Wey, J. (Jenny), Peterlongo, P. (Paolo), Peto, J. (Julian), Phelan, C. (Catherine), Phillips, K.-A. (Kelly-Anne), Piedmonte, M. (Marion), Pike, M.C. (Malcolm C.), Platte, R. (Radka), Plisiecka-Halasa, J. (Joanna), Poole, E.M. (Elizabeth), Poppe, B. (Bruce), Pykäs, K. (Katri), Radice, P. (Paolo), Ramus, S.J. (Susan), Rebbeck, R. (Timothy), Reed, M.W.R. (Malcolm W.R.), Rennert, G. (Gad), Risch, H. (Harvey), Robson, M. (Mark), Rodriguez, G. (Gustavo), Romero, A. (Atocha), Rossing, M.A. (Mary Anne), Rothstein, J.H. (Joseph H.), Rudolph, A. (Anja), Runnebaum, I.B. (Ingo), Salani, R. (Ritu), Salvesen, H.B. (Helga), Sawyer, E.J. (Elinor), Schildkraut, J.M. (Joellen), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Schneeweiss, A. (Andreas), Schoemaker, M. (Minouk), Schrauder, A. (André), Schumacher, F.R. (Fredrick), Schwaab, I. (Ira), Scuvera, G. (Giulietta), Sellers, T.A. (Thomas A.), Severi, G. (Gianluca), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Shrubsole, M. (Martha), Siddiqui, N. (Nadeem), Sieh, W. (Weiva), Simard, J. (Jacques), Singer, C.F. (Christian), Sinilnikova, O. (Olga), Smeets, D. (Dominiek), Sohn, C. (Christof), Soller, M. (Maria), Song, H. (Honglin), Soucy, P. (Penny), Southey, M.C. (Melissa), Stegmaier, C. (Christa), Stoppa-Lyonnet, D. (Dominique), Sucheston, L. (Lara), Swerdlow, A.J. (Anthony ), Tangen, I.L. (Ingvild L.), Tea, M.-K., Teixeira, P.J., Terry, K.L. (Kathryn), Terry, M.B. (Mary Beth), Thomassen, M. (Mads), Thompson, P.J. (Pamela J.), Tihomirova, L. (Laima), Tischkowitz, M. (Marc), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Tsimiklis, H. (Helen), Tung, N. (Nadine), Tworoger, S. (Shelley), Tyrer, J.P. (Jonathan), Vachon, C. (Celine), Veer, L.J. (Laura) van 't, Altena, A.M. (Anne) van, Asperen, C.J. (Christi) van, Van Den Berg, D. (David), Ouweland, A.M.W. (Ans) van den, Doorn, H.C. (Lena) van, Van Nieuwenhuysen, E. (Els), Rensburg, E.J. (Elizabeth) van, Vergote, I. (Ignace), Verhoef, S., Vierkant, R.A. (Robert), Vijai, J. (Joseph), Vitonis, A.F. (Allison), Wachenfeldt, A. (Anna) von, Walsh, C.S. (Christine), Wang, Q. (Qing), Wang-Gohrke, S. (Shan), Wapenschmidt, B. (Barbara), Weischer, M. (Maren), Weitzel, J.N. (Jeffrey), Weltens, C. (Caroline), Wentzensen, N. (N.), Whittemore, A.S. (Alice S.), Wilkens, L.R. (Lynne R.), Winqvist, R. (Robert), Wu, A.H. (Anna), Wu, X. (Xifeng), Yang, H.P. (Hannah P.), Zaffaroni, D. (Daniela), Zamora, M.P. (Pilar), Zheng, W. (Wei), Ziogas, A. (Argyrios), Chenevix-Trench, G. (Georgia), Pharoah, P.D.P. (Paul), Rookus, M.A. (Matti), Hooning, M.J. (Maartje), Goode, E.L. (Ellen L.), Breast Cancer Family Register, EMBRACE, GENICA Network, HEBON, and SWE-BRCA
Abstract: Objective Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3′ UTR microRNA binding site, based on suggested associations with increased ovarian and br
Published: 2016
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12. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1

Author: Glubb, D.M. (Dylan), Maranian, M. (Melanie), Michailidou, K. (Kyriaki), Pooley, K.A. (Karen), Meyer, K.B. (Kerstin), Kar, S. (Siddhartha), Carlebur, A.F.C., O'Reilly, M. (Marian), Betts, J.A. (Joshua), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Beesley, J. (Jonathan), Canisius, S. (Sander), Hopper, J.L. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Schoot, C.E. (Ellen) van der, Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Fasching, P.A. (Peter), Ruebner, M. (Matthias), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Pharoah, P.D.P. (Paul D.P.), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Burwinkel, B. (Barbara), Marme, F. (Federick), Yang, R. (Rongxi), Surowy, H. (Harald), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Ko, Y.-D. (Yon-Dschun), Brüning, T. (Thomas), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Tanaka, H. (Hideo), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Helbig, S. (Sonja), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Wu, A.H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), Lambrechts, D. (Diether), Zhao, H. (Hui), Weltens, C. (Caroline), Limbergen, E. (Erik) van, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Seibold, P. (Petra), Radice, P. (Paolo), Peterlongo, P. (Paolo), Barile, M. (Monica), Capra, F. (Fabio), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), See, M.-H. (Mee-Hoong), Cornes, B.K. (Belinda), Cheng, C-Y. (Ching-Yu), Ikram, M.K. (Kamran), Kristensen, V. (Vessela), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Czene, K. (Kamila), Klevebring, D. (Daniel), Darabi, H. (Hatef), Eriksson, M. (Mikael), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John W. M.), Collée, J.M. (Margriet), Hall, P. (Per), Li, J. (Jingmei), Humphreys, K. (Keith), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y.-T. (Yu-Tang), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Shah, M. (Mitul), Ghoussaini, M. (Maya), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Noh, D-Y. (Dong-Young), Hartman, M. (Mikael), Miao, X., Lim, W.-Y. (Wei-Yen), Tang, A. (Anthony), Hamann, U. (Ute), Torres, D. (Diana), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Olswold, C. (Curtis), Slager, S. (Susan), Toland, A.E. (Amanda), Yannoukakos, D. (Drakoulis), Shen, C-Y. (Chen-Yang), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Hou, M.-F. (Ming-Feng), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Brown, M. (Melissa), Ponder, B.A.J. (Bruce A.J.), Chenevix-Trench, G. (Georgia), Thompson, D. (Deborah), Edwards, S.L. (Stacey), Easton, D.F. (Douglas), Dunning, A.M. (Alison), French, J.D. (Juliet), Glubb, D.M. (Dylan), Maranian, M. (Melanie), Michailidou, K. (Kyriaki), Pooley, K.A. (Karen), Meyer, K.B. (Kerstin), Kar, S. (Siddhartha), Carlebur, A.F.C., O'Reilly, M. (Marian), Betts, J.A. (Joshua), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Beesley, J. (Jonathan), Canisius, S. (Sander), Hopper, J.L. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Schoot, C.E. (Ellen) van der, Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Fasching, P.A. (Peter), Ruebner, M. (Matthias), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Pharoah, P.D.P. (Paul D.P.), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Burwinkel, B. (Barbara), Marme, F. (Federick), Yang, R. (Rongxi), Surowy, H. (Harald), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Ko, Y.-D. (Yon-Dschun), Brüning, T. (Thomas), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Tanaka, H. (Hideo), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Helbig, S. (Sonja), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Wu, A.H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), Lambrechts, D. (Diether), Zhao, H. (Hui), Weltens, C. (Caroline), Limbergen, E. (Erik) van, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Seibold, P. (Petra), Radice, P. (Paolo), Peterlongo, P. (Paolo), Barile, M. (Monica), Capra, F. (Fabio), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), See, M.-H. (Mee-Hoong), Cornes, B.K. (Belinda), Cheng, C-Y. (Ching-Yu), Ikram, M.K. (Kamran), Kristensen, V. (Vessela), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Czene, K. (Kamila), Klevebring, D. (Daniel), Darabi, H. (Hatef), Eriksson, M. (Mikael), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John W. M.), Collée, J.M. (Margriet), Hall, P. (Per), Li, J. (Jingmei), Humphreys, K. (Keith), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y.-T. (Yu-Tang), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Shah, M. (Mitul), Ghoussaini, M. (Maya), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Noh, D-Y. (Dong-Young), Hartman, M. (Mikael), Miao, X., Lim, W.-Y. (Wei-Yen), Tang, A. (Anthony), Hamann, U. (Ute), Torres, D. (Diana), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Olswold, C. (Curtis), Slager, S. (Susan), Toland, A.E. (Amanda), Yannoukakos, D. (Drakoulis), Shen, C-Y. (Chen-Yang), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Hou, M.-F. (Ming-Feng), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Brown, M. (Melissa), Ponder, B.A.J. (Bruce A.J.), Chenevix-Trench, G. (Georgia), Thompson, D. (Deborah), Edwards, S.L. (Stacey), Easton, D.F. (Douglas), Dunning, A.M. (Alison), and French, J.D. (Juliet)
Abstract: Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed 909 genetic variants across 5q11.2 in 103,991 breast cancer individuals and control individuals from 52 studies in the Breast Cancer Association Consortium. Multiple logistic regression analyses identified three independent risk signals: the strongest associations were with 15 correlated variants (iCHAV1), where the minor allele of the best candidate, rs62355902, associated with significantly increased risks of both estrogen-receptor-positive (ER+: odds ratio [OR] = 1.24, 95% confidence interval [CI] = 1.21-1.27, ptrend = 5.7 × 10-44) and estrogen-receptor-negative (ER-: OR = 1.10, 95% CI = 1.05-1.15, ptrend = 3.0 × 10-4) tumors. After adjustment for rs62355902, we found evidence of association of a further 173 variants (iCHAV2) containing three subsets with a range of effects (the strongest was rs113317823 [pcond = 1.61 × 10-5]) and five variants composing iCHAV3 (lead rs11949391; ER+: OR = 0.90, 95% CI = 0.87-0.93, pcond = 1.4 × 10-4). Twenty-six percent of the prioritized candidate variants coincided with four putative regulatory elements that interact with the MAP3K1 promoter through chromatin looping and affect MAP3K1 promoter activity. Functional analysis indicated that the cancer risk alleles of four candidates (rs74345699 and rs62355900 [iCHAV1], rs16886397 [iCHAV2a], and rs17432750 [iCHAV3]) increased MAP3K1 transcriptional activity. Chromatin immunoprecipitation analysis revealed diminished GATA3 binding to the minor (cancer-protective) allele of rs17432750, indicating a mechanism for its action. We propose that the cancer risk alleles act to increase MAP3K1 expression in vivo and might promote breast cancer cell survival.
Published: 2015
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13. Sensitivity to systemic therapy for metastatic breast cancer in CHEK2 1100delC mutation carriers

Author: Kriege, M. (Mieke), Jager, A. (Agnes), Hollestelle, A. (Antoinette), Berns, P.M.J.J. (Els), Blom, J. (Jannet), Meijer van Gelder, M.E. (Marion), Sieuwerts, A.M. (Anieta), Ouweland, A.M.W. (Ans) van den, Collée, J.M. (Margriet), Kroep, J.R. (Judith), Martens, J.W.M. (John W. M.), Hooning, M.J. (Maartje), Seynaeve, C.M. (Caroline), Kriege, M. (Mieke), Jager, A. (Agnes), Hollestelle, A. (Antoinette), Berns, P.M.J.J. (Els), Blom, J. (Jannet), Meijer van Gelder, M.E. (Marion), Sieuwerts, A.M. (Anieta), Ouweland, A.M.W. (Ans) van den, Collée, J.M. (Margriet), Kroep, J.R. (Judith), Martens, J.W.M. (John W. M.), Hooning, M.J. (Maartje), and Seynaeve, C.M. (Caroline)
Abstract: Purpose: The role of CHEK2 in DNA repair by homologous recombination suggests that CHEK2-associated breast cancer (BC) patients might be more sensitive to chemotherapy inducing double-strand DNA breaks, but results hereon are lacking. We compared the sensitivity to first-line chemotherapy and endocrine therapy between CHEK2 1100delC and non-CHEK2 metastatic breast cancer (MBC) patients. Methods: Sixty-two CHEK2 1100delC MBC patients were selected from three cohorts genotyped for CHEK2 1100delC (one non-BRCA1/2 cohort and two sporadic cohorts). Controls were 62 non-CHEK2 MBC patients, matched for age at and year of primary BC diagnosis, and year of metastatic disease. Objective response rate (complete and partial response) to, and progression-free survival (PFS) and overall survival (OS) after start of first-line chemotherapy and endocrine therapy were compared between CHEK2 and non-CHEK2 patients. Results: Median age at BC diagnosis was 46 and 51 years at MBC diagnosis. First-line chemotherapy consisted of anthracycline-based chemotherapy (n = 73), taxanes (n = 16), CMF(-like) chemotherapy (n = 33) and taxane/anthracycline regimens (n = 2). CHEK2 and non-CHEK2 patients had a comparable objective response rate (44 vs. 52 %). Also, PFS and OS after start of chemotherapy were comparable between both patient groups (hazard ratio 0.91; 95 % confidence interval 0.63–1.30 and 1.03; 95 % CI 0.71–1.49, respectively). Thirty-six CHEK2 and 32 non-CHEK2 patients received first-line endocrine therapy (mainly tamoxifen) for MBC. No significant differences were observed in objective response rate to, and PFS and OS after start of endocrine therapy. Conclusion: No differe
Published: 2015
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14. Timing of risk reducing mastectomy in breast cancer patients carrying a BRCA1/2 mutation: retrospective data from the Dutch HEBON study

Author: Wevers, M.R., Schmidt, M.K. (Marjanka), Engelhardt, E.G., Verhoef, S., Hooning, M.J. (Maartje), Kriege, M. (Mieke), Seynaeve, C.M. (Caroline), Collée, J.M. (Margriet), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Koppert, L.B. (Linetta), Witkamp, A.J. (A.), Rutgers, E.J.T. (Emiel), Aaronson, N.K. (Neil), Rookus, M.A. (M.), Ausems, M.G.E.M. (Margreet), Wevers, M.R., Schmidt, M.K. (Marjanka), Engelhardt, E.G., Verhoef, S., Hooning, M.J. (Maartje), Kriege, M. (Mieke), Seynaeve, C.M. (Caroline), Collée, J.M. (Margriet), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Koppert, L.B. (Linetta), Witkamp, A.J. (A.), Rutgers, E.J.T. (Emiel), Aaronson, N.K. (Neil), Rookus, M.A. (M.), and Ausems, M.G.E.M. (Margreet)
Abstract: It is expected that rapid genetic counseling and testing (RGCT) will lead to increasing numbers of breast cancer (BC) patients knowing their BRCA1/2 carrier status before primary surgery. Considering the potential impact of knowing one’s status on uptake and timing of risk-reducing contralateral mastectomy (RRCM), we aimed to evaluate trends over time in RRCM, and differences between carriers identified either before (predictively) or after (diagnostically) diagnosis. We collected data from female BRCA1/2 mutation carriers diagnosed with BC between 1995 and 2009 from four Dutch university hospitals. We compared the timing of genetic testing and RRCM in relation to diagnosis in 1995–2000 versus 2001–2009 for all patients, and predictively and diagnostically tested patients separately. Of 287 patients, 219 (76 %) had a diagnostic BRCA1/2 test. In this cohort, the median time from diagnosis to DNA testing decreased from 28 months for those diagnosed between 1995 and 2000 to 14 months for those diagnosed between 2001 and 2009 (p < 0.001). Similarly, over time women in this cohort underwent RRCM sooner after diagnosis (median of 77 vs. 27 months, p = 0.05). Predictively tested women who subsequently developed BC underwent an immediate RRCM significantly more often than women who had a diagnostic test (21/61, 34 %, vs. 13/170, 7.6 %, p < 0.001). Knowledge of carrying a BRCA1/2 mutation when diagnosed with BC influenced decisions concerning primary surgery. Additionally, in more recent years, women who had not undergone predictive testing were more likely to undergo diagnostic DNA testing and RRCM sooner after diagnosis. This suggests the need for RGCT to guide treatment decisions.
Published: 2015
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15. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

Author: Rebbeck, R. (Timothy), Mitra, N. (Nandita), Wan, F. (Fei), Sinilnikova, O. (Olga), Healey, S. (Sue), McGuffog, L. (Lesley), Chenevix-Trench, G. (Georgia), Easton, D.F. (Douglas), Antoniou, A.C. (Antonis), Nathanson, K.L. (Katherine), Laitman, Y. (Yael), Kushnir, A. (Anya), Paluch-Shimon, S. (Shani), Berger, R. (Raanan), Zidan, J. (Jamal), Friedman, E. (Eitan), Ehrencrona, H. (Hans), Stenmark-Askmalm, M. (Marie), Einbeigi, Z. (Zakaria), Loman, N. (Niklas), Harbst, K. (Katja), Rantala, J. (Johanna), Melin, B. (Beatrice), Huo, D. (Dezheng), Olopade, O.I. (Olofunmilayo), Seldon, J.L. (Joyce), Ganz, P.A. (Patricia), Nussbaum, R.L. (Robert L.), Chan, S. (Salina), Odunsi, K. (Kunle), Gayther, S.A. (Simon), Domchek, S.M. (Susan), Arun, B.K. (Banu), Lu, K.H. (Karen), Mitchell, G. (Gillian), Karlan, B.Y. (Beth), Walsh, C.S. (Christine), Lester, K.J. (Kathryn), Godwin, A.K. (Andrew), Pathak, S.S., Ross, E.B. (Eric), Daly, M.J. (Mark), Whittemore, A.S. (Alice), John, E.M. (Esther), Miron, A. (Alexander), Terry, M.B. (Mary Beth), Chung, W.K. (Wendy K.), Goldgar, D. (David), Buys, S.S. (Saundra), Janavicius, R. (Ramunas), Tihomirova, L. (Laima), Tung, N. (Nadine), Dorfling, C.M. (Cecilia), Rensburg, E.J. (Elizabeth) van, Steele, L. (Linda), Neuhausen, S.L. (Susan), Ding, Y.C. (Yuan), Ejlertsen, B. (Bent), Gerdes, A-M. (Anne-Marie), Hansen, T.V.O. (Thomas), Ramon Y Cajal, T., Osorio, A. (Ana), Benítez, J. (Javier), Godino, J. (Javier), Tejada, M.I., Duran, M. (Mercedes), Weitzel, J.N. (Jeffrey), Bobolis, K.A. (Kristie A.), Sand, S.R. (Sharon), Fontaine, A. (Annette), Savarese, A. (Antonella), Pasini, B. (Barbara), Peissel, B. (Bernard), Bonnani, B. (Bernardo), Zaffaroni, D. (Daniela), Vignolo-Lutati, F. (Francesca), Scuvera, G. (Giulietta), Giannini, G. (Giuseppe), Bernard, L. (Loris), Genuardi, M. (Maurizio), Radice, P. (Paolo), Dolcetti, R. (Riccardo), Manoukian, S. (Siranoush), Pensotti, V. (Valeria), Gismondi, V. (Viviana), Yannoukakos, D. (Drakoulis), Fostira, F. (Florentia), Garber, J. (Judy), Torres, D. (Diana), Rashid, M.U. (Muhammad), Hamann, U. (Ute), Peock, S. (Susan), Frost, D. (Debra), Platte, R. (Radka), Evans, D.G. (Gareth), Eeles, R. (Rosalind), Davidson, R. (Rosemarie), Eccles, D. (Diana), Cole, T. (Trevor), Cook, J. (Jackie), Brewer, C. (Carole), Hodgson, S. (Shirley), Morrison, P.J. (Patrick), Walker, L.J. (Lisa), Porteous, M.E. (Mary), Kennedy, M.J. (John), Izatt, L. (Louise), Adlard, L., Donaldson, A. (Alan), Ellis, S.D. (Steve), Sharma, P. (Priyanka), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Becker, A. (Alexandra), Rhiem, K. (Kerstin), Hahnen, E. (Eric), Engel, C. (Christoph), Meindl, A. (Alfons), Engert, S. (Stefanie), Ditsch, N. (Nina), Arnold, N. (Norbert), Plendl, H. (Hansjoerg), Mundhenke, C. (Christoph), Niederacher, D. (Dieter), Fleisch, M.C. (Markus), Sutter, C. (Christian), Bartram, C.R. (Claus), Dikow, N. (Nicola), Wang-Gohrke, S. (Shan), Gadzicki, D. (Dorothea), Steinemann, D. (Doris), Kast, K. (Karin), Beer, M. (Marit), Varon-Mateeva, R. (Raymonda), Gehrig, P.A. (Paola A.), Weber, B.H.F. (Bernhard), Stoppa-Lyonnet, D. (Dominique), Belotti, M. (Muriel), Gauthier-Villars, M. (Marion), Damiola, F. (Francesca), Boutry-Kryza, N. (N.), Lasset, C. (Christine), Sobol, H. (Hagay), Peyrat, J.-P., Muller, D.W. (Danièle), Fricker, J.P. (Jean Pierre), Collonge-Rame, M.-A., Mortemousque, I. (Isabelle), Nogues, C. (Catherine), Rouleau, E. (Etienne), Isaacs, C. (Claudine), Paepe, A. (Anne) de, Poppe, B. (Bruce), Claes, K. (Kathleen), De Leeneer, K. (Kim), Piedmonte, M. (Marion), Rodriguez, G. (Gustavo), Wakely, K. (Katie), Boggess, J.F. (John), Blank, S.V. (Stephanie), Basil, J. (Jack), Azodi, M. (Masoud), Phillips, K.-A. (Kelly-Anne), Caldes, T. (Trinidad), Hoya, M. (Miguel) de La, Romero, A. (Atocha), Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Hout, A.H. (Annemarie) van der, Hogervorst, F.B.L. (Frans), Verhoef, S., Collée, J.M. (Margriet), Seynaeve, C.M. (Caroline), Oosterwijk, J.C. (Jan), Gille, J.J. (Johan), Wijnen, J.T. (Juul), Gómez García, E.B. (Encarna), Kets, C.M. (Marleen), Ausems, M.G.E.M. (Margreet), Aalfs, C.M. (Cora), Devilee, P. (Peter), Mensenkamp, A.R. (Arjen), Kwong, A. (Ava), Olah, E., Papp, J. (Janos), Díez, O. (Orland), Lázaro, C. (Conxi), Darder, E. (Esther), Blanco, I. (Ignacio), Salinas, M., Jakubowska, A. (Anna), Lubinski, J. (Jan), Gronwald, J. (Jacek), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Sukiennicki, G. (Grzegorz), Huzarski, T. (Tomasz), Byrski, T. (Tomasz), Cybulski, C. (Cezary), Toloczko-Grabarek, A. (Aleksandra), Złowocka-Perłowska, E. (Elzbieta), Menkiszak, J. (Janusz), Arason, A. (Adalgeir), Barkardottir, R.B. (Rosa), Simard, J. (Jacques), Laframboise, R. (Rachel), Montagna, M. (Marco), Agata, S. (Simona), Alducci, E. (Elisa), Peixoto, A. (Ana), Teixeira, P.J., Spurdle, A.B. (Amanda), Lee, M.H. (Min Hyuk), Park, S.K. (Sue), Kim, S.-W. (Sung-Won), Friebel, M.O.W. (Mark ), Couch, F.J. (Fergus), Lindor, N.M. (Noralane), Pankratz, V.S. (Shane), Guidugli, L. (Lucia), Wang, X. (Xianshu), Tischkowitz, M. (Marc), Foretova, L. (Lenka), Vijai, J. (Joseph), Offit, K. (Kenneth), Robson, M. (Mark), Rau-Murthy, R. (Rohini), Kauff, N. (Noah), Fink-Retter, A. (Anneliese), Singer, C.F. (Christian), Rappaport, C. (Christine), Gschwantler-Kaulich, D. (Daphne), Pfeiler, G. (Georg), Tea, M.-K., Berger, A. (Andreas), Greene, M.H. (Mark), Mai, P.L. (Phuong), Imyanitov, E.N. (Evgeny), Toland, A.E. (Amanda), Senter, L. (Leigha), Bojesen, A. (Anders), Pedersen, I.S. (Inge Sokilde), Skytte, A.-B. (Anne-Bine), Sunde, L. (Lone), Thomassen, M. (Mads), Moeller, S.T. (Sanne Traasdahl), Kruse, T.A. (Torben), Jensen, U.B., Caligo, M.A. (Maria), Aretini, P. (Paolo), Teo, S.-H. (Soo-Hwang), Selkirk, C.G. (Christina), Hulick, P.J. (Peter), Andrulis, I.L. (Irene), Rebbeck, R. (Timothy), Mitra, N. (Nandita), Wan, F. (Fei), Sinilnikova, O. (Olga), Healey, S. (Sue), McGuffog, L. (Lesley), Chenevix-Trench, G. (Georgia), Easton, D.F. (Douglas), Antoniou, A.C. (Antonis), Nathanson, K.L. (Katherine), Laitman, Y. (Yael), Kushnir, A. (Anya), Paluch-Shimon, S. (Shani), Berger, R. (Raanan), Zidan, J. (Jamal), Friedman, E. (Eitan), Ehrencrona, H. (Hans), Stenmark-Askmalm, M. (Marie), Einbeigi, Z. (Zakaria), Loman, N. (Niklas), Harbst, K. (Katja), Rantala, J. (Johanna), Melin, B. (Beatrice), Huo, D. (Dezheng), Olopade, O.I. (Olofunmilayo), Seldon, J.L. (Joyce), Ganz, P.A. (Patricia), Nussbaum, R.L. (Robert L.), Chan, S. (Salina), Odunsi, K. (Kunle), Gayther, S.A. (Simon), Domchek, S.M. (Susan), Arun, B.K. (Banu), Lu, K.H. (Karen), Mitchell, G. (Gillian), Karlan, B.Y. (Beth), Walsh, C.S. (Christine), Lester, K.J. (Kathryn), Godwin, A.K. (Andrew), Pathak, S.S., Ross, E.B. (Eric), Daly, M.J. (Mark), Whittemore, A.S. (Alice), John, E.M. (Esther), Miron, A. (Alexander), Terry, M.B. (Mary Beth), Chung, W.K. (Wendy K.), Goldgar, D. (David), Buys, S.S. (Saundra), Janavicius, R. (Ramunas), Tihomirova, L. (Laima), Tung, N. (Nadine), Dorfling, C.M. (Cecilia), Rensburg, E.J. (Elizabeth) van, Steele, L. (Linda), Neuhausen, S.L. (Susan), Ding, Y.C. (Yuan), Ejlertsen, B. (Bent), Gerdes, A-M. (Anne-Marie), Hansen, T.V.O. (Thomas), Ramon Y Cajal, T., Osorio, A. (Ana), Benítez, J. (Javier), Godino, J. (Javier), Tejada, M.I., Duran, M. (Mercedes), Weitzel, J.N. (Jeffrey), Bobolis, K.A. (Kristie A.), Sand, S.R. (Sharon), Fontaine, A. (Annette), Savarese, A. (Antonella), Pasini, B. (Barbara), Peissel, B. (Bernard), Bonnani, B. (Bernardo), Zaffaroni, D. (Daniela), Vignolo-Lutati, F. (Francesca), Scuvera, G. (Giulietta), Giannini, G. (Giuseppe), Bernard, L. (Loris), Genuardi, M. (Maurizio), Radice, P. (Paolo), Dolcetti, R. (Riccardo), Manoukian, S. (Siranoush), Pensotti, V. (Valeria), Gismondi, V. (Viviana), Yannoukakos, D. (Drakoulis), Fostira, F. (Florentia), Garber, J. (Judy), Torres, D. (Diana), Rashid, M.U. (Muhammad), Hamann, U. (Ute), Peock, S. (Susan), Frost, D. (Debra), Platte, R. (Radka), Evans, D.G. (Gareth), Eeles, R. (Rosalind), Davidson, R. (Rosemarie), Eccles, D. (Diana), Cole, T. (Trevor), Cook, J. (Jackie), Brewer, C. (Carole), Hodgson, S. (Shirley), Morrison, P.J. (Patrick), Walker, L.J. (Lisa), Porteous, M.E. (Mary), Kennedy, M.J. (John), Izatt, L. (Louise), Adlard, L., Donaldson, A. (Alan), Ellis, S.D. (Steve), Sharma, P. (Priyanka), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Becker, A. (Alexandra), Rhiem, K. (Kerstin), Hahnen, E. (Eric), Engel, C. (Christoph), Meindl, A. (Alfons), Engert, S. (Stefanie), Ditsch, N. (Nina), Arnold, N. (Norbert), Plendl, H. (Hansjoerg), Mundhenke, C. (Christoph), Niederacher, D. (Dieter), Fleisch, M.C. (Markus), Sutter, C. (Christian), Bartram, C.R. (Claus), Dikow, N. (Nicola), Wang-Gohrke, S. (Shan), Gadzicki, D. (Dorothea), Steinemann, D. (Doris), Kast, K. (Karin), Beer, M. (Marit), Varon-Mateeva, R. (Raymonda), Gehrig, P.A. (Paola A.), Weber, B.H.F. (Bernhard), Stoppa-Lyonnet, D. (Dominique), Belotti, M. (Muriel), Gauthier-Villars, M. (Marion), Damiola, F. (Francesca), Boutry-Kryza, N. (N.), Lasset, C. (Christine), Sobol, H. (Hagay), Peyrat, J.-P., Muller, D.W. (Danièle), Fricker, J.P. (Jean Pierre), Collonge-Rame, M.-A., Mortemousque, I. (Isabelle), Nogues, C. (Catherine), Rouleau, E. (Etienne), Isaacs, C. (Claudine), Paepe, A. (Anne) de, Poppe, B. (Bruce), Claes, K. (Kathleen), De Leeneer, K. (Kim), Piedmonte, M. (Marion), Rodriguez, G. (Gustavo), Wakely, K. (Katie), Boggess, J.F. (John), Blank, S.V. (Stephanie), Basil, J. (Jack), Azodi, M. (Masoud), Phillips, K.-A. (Kelly-Anne), Caldes, T. (Trinidad), Hoya, M. (Miguel) de La, Romero, A. (Atocha), Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Hout, A.H. (Annemarie) van der, Hogervorst, F.B.L. (Frans), Verhoef, S., Collée, J.M. (Margriet), Seynaeve, C.M. (Caroline), Oosterwijk, J.C. (Jan), Gille, J.J. (Johan), Wijnen, J.T. (Juul), Gómez García, E.B. (Encarna), Kets, C.M. (Marleen), Ausems, M.G.E.M. (Margreet), Aalfs, C.M. (Cora), Devilee, P. (Peter), Mensenkamp, A.R. (Arjen), Kwong, A. (Ava), Olah, E., Papp, J. (Janos), Díez, O. (Orland), Lázaro, C. (Conxi), Darder, E. (Esther), Blanco, I. (Ignacio), Salinas, M., Jakubowska, A. (Anna), Lubinski, J. (Jan), Gronwald, J. (Jacek), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Sukiennicki, G. (Grzegorz), Huzarski, T. (Tomasz), Byrski, T. (Tomasz), Cybulski, C. (Cezary), Toloczko-Grabarek, A. (Aleksandra), Złowocka-Perłowska, E. (Elzbieta), Menkiszak, J. (Janusz), Arason, A. (Adalgeir), Barkardottir, R.B. (Rosa), Simard, J. (Jacques), Laframboise, R. (Rachel), Montagna, M. (Marco), Agata, S. (Simona), Alducci, E. (Elisa), Peixoto, A. (Ana), Teixeira, P.J., Spurdle, A.B. (Amanda), Lee, M.H. (Min Hyuk), Park, S.K. (Sue), Kim, S.-W. (Sung-Won), Friebel, M.O.W. (Mark ), Couch, F.J. (Fergus), Lindor, N.M. (Noralane), Pankratz, V.S. (Shane), Guidugli, L. (Lucia), Wang, X. (Xianshu), Tischkowitz, M. (Marc), Foretova, L. (Lenka), Vijai, J. (Joseph), Offit, K. (Kenneth), Robson, M. (Mark), Rau-Murthy, R. (Rohini), Kauff, N. (Noah), Fink-Retter, A. (Anneliese), Singer, C.F. (Christian), Rappaport, C. (Christine), Gschwantler-Kaulich, D. (Daphne), Pfeiler, G. (Georg), Tea, M.-K., Berger, A. (Andreas), Greene, M.H. (Mark), Mai, P.L. (Phuong), Imyanitov, E.N. (Evgeny), Toland, A.E. (Amanda), Senter, L. (Leigha), Bojesen, A. (Anders), Pedersen, I.S. (Inge Sokilde), Skytte, A.-B. (Anne-Bine), Sunde, L. (Lone), Thomassen, M. (Mads), Moeller, S.T. (Sanne Traasdahl), Kruse, T.A. (Torben), Jensen, U.B., Caligo, M.A. (Maria), Aretini, P. (Paolo), Teo, S.-H. (Soo-Hwang), Selkirk, C.G. (Christina), Hulick, P.J. (Peter), and Andrulis, I.L. (Irene)
Abstract: Importance: Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists. Objective: To identify mutation-specific cancer risks for carriers of BRCA1/2. Design, Setting, and Participants: Observational study ofwomen whowere ascertained between 1937 and 2011 (median, 1999) and found to carry disease-associated BRCA1 or BRCA2 mutations. The international sample comprised 19 581 carriers of BRCA1 mutations and 11 900 carriers of BRCA2 mutations from 55 centers in 33 countries on 6 continents.We estimated hazard ratios for breast and ovarian cancer based on mutation type, function, and nucleotide position.We also estimated RHR, the ratio of breast vs ovarian cancer hazard ratios. A value of RHR greater than 1 indicated elevated breast cancer risk; a value of RHR less than 1 indicated elevated ovarian cancer risk. Exposures: Mutations of BRCA1 or BRCA2. Main Outcomes and Measures: Breast and ovarian cancer risks. Results: Among BRCA1 mutation carriers, 9052 women (46%) were diagnosed with breast cancer, 2317 (12%) with ovarian cancer, 1041 (5%) with breast and ovarian cancer, and 7171 (37%) without cancer. Among BRCA2 mutation carriers, 6180 women (52%) were diagnosed with breast cancer, 682 (6%) with ovarian cancer, 272 (2%) with breast and ovarian cancer, and 4766 (40%) without cancer. In BRCA1, we identified 3 breast cancer cluster regions (BCCRs) located at c.179 to c.505 (BCCR1; RHR = 1.46; 95%CI, 1.22-1.74; P = 2 × 10-6), c.4328 to c.4945 (BCCR2; RHR = 1.34; 95%CI, 1.01-1.78; P = .04), and c. 5261 to c.5563 (BCCR2', RHR = 1.38; 95%CI, 1.22-1.55; P = 6 × 10-9).We also identified an ovarian cancer cluster region (OCCR) from c.1380 to c.4062 (approximately exon 11) with RHR = 0.62 (95%CI, 0.56-0.70; P = 9 × 10-17). In BRCA2, we observed multiple BCCRs spanning c.1 to c.596 (BCCR1; RHR = 1.71; 95%CI, 1.06-2.78; P = .03), c.772 to c.1806 (BCCR1'; RHR = 1.63; 95%CI, 1.10-2.40; P = .01), and c.7394 to
Published: 2015
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16. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Author: Michailidou, K. (Kyriaki), Beesley, J. (Jonathan), Lindstrom, S. (Stephen), Canisius, S. (Sander), Dennis, J. (Joe), Lush, M. (Michael), Maranian, M. (Melanie), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Shah, M. (Mitul), Perkins, B. (Barbara), Czene, K. (Kamila), Eriksson, M. (Mikael), Darabi, H. (Hatef), Brand, J.S. (Judith S.), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Nielsen, S.F. (Sune), Rahman, N. (Nazneen), Turnbull, C. (Clare), Fletcher, O. (Olivia), Peto, J. (Julian), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Eilber, U. (Ursula), Behrens, T.W. (Timothy), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Khan, S. (Sofia), Aaltonen, K. (Kirsimari), Ahsan, H. (Habibul), Kibriya, M.G. (Muhammad), Whittemore, A.S. (Alice S.), John, E.M. (Esther M.), Malone, K.E. (Kathleen E.), Gammon, M.D. (Marilie), Santella, R.M. (Regina M.), Ursin, G. (Giske), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Casey, G. (Graham), Hunter, D.J. (David J.), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Diver, W.R. (Ryan), Haiman, C.A. (Christopher A.), Schumacher, F.R. (Fredrick), Henderson, B.E. (Brian), Le Marchand, L. (Loic), Berg, C.D. (Christine), Chanock, S.J. (Stephen), Figueroa, J.D. (Jonine), Hoover, R.N. (Robert N.), Lambrechts, D. (Diether), Neven, P. (Patrick), Wildiers, H. (Hans), Limbergen, E. (Erik) van, Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Verhoef, S., Cornelissen, S. (Sten), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (Ji-Yeob), Park, S.K. (Sue K.), Yoo, K.Y., Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hiroji), Tajima, K. (Kazuo), Guénel, P. (Pascal), Truong, T. (Thérèse), Mulot, C. (Claire), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Surowy, H. (Harald), Sohn, C. (Christof), Wu, A.H. (Anna H), Tseng, C.-C. (Chiu-chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.H. (Soo Hwang), Yip, C.H. (Cheng Har), Taib, N.A.M. (Nur Aishah Mohd), Tan, G.-H. (Gie-Hooi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Collée, J.M. (Margriet), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Hopper, J. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Shen, C-Y. (Chen-Yang), Hsiung, C.-N. (Chia-Ni), Wu, P.-E. (Pei-Ei), Hou, M.-F. (Ming-Feng), Kristensen, V. (Vessela), Nord, S. (Silje), Alnæs, G.G. (Grethe), Giles, G.G. (Graham G.), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Canzian, F. (Federico), Trichopoulos, D. (Dimitrios), Peeters, P.H.M., Lund, E. (Eiliv), Sund, R. (Reijo), Khaw, K.T., Gunter, M.J. (Marc J.), Palli, D. (Domenico), Mortensen, L.M. (Lotte Maxild), Dossus, L. (Laure), Huerta, J.-M. (Jose-Maria), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Sutter, C. (Christian), Yang, R. (Rongxi), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, J.M. (Joost), Miao, X., Chia, K.S. (Kee Seng), Chan, C.W. (Ching Wan), Fasching, P.A. (Peter), Hein, R. (Rebecca), Beckmann, M.W. (Matthias), Haeberle, L. (Lothar), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), Brinton, L.A. (Louise), García-Closas, M. (Montserrat), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Brauch, H. (Hiltrud), Hamann, U. (Ute), Brüning, T. (Thomas), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Bernard, L. (Loris), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Kabisch, M. (Maria), Torres, D. (Diana), Neuhausen, S.L. (Susan), Anton-Culver, H. (Hoda), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Simard, J. (Jacques), Pharoah, P.P.D.P. (Paul P.D.P.), Kraft, P. (Peter), Dunning, A.M. (Alison), Chenevix-Trench, G. (Georgia), Hall, P. (Per), Easton, D.F. (Douglas), Michailidou, K. (Kyriaki), Beesley, J. (Jonathan), Lindstrom, S. (Stephen), Canisius, S. (Sander), Dennis, J. (Joe), Lush, M. (Michael), Maranian, M. (Melanie), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Shah, M. (Mitul), Perkins, B. (Barbara), Czene, K. (Kamila), Eriksson, M. (Mikael), Darabi, H. (Hatef), Brand, J.S. (Judith S.), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Nielsen, S.F. (Sune), Rahman, N. (Nazneen), Turnbull, C. (Clare), Fletcher, O. (Olivia), Peto, J. (Julian), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Eilber, U. (Ursula), Behrens, T.W. (Timothy), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Khan, S. (Sofia), Aaltonen, K. (Kirsimari), Ahsan, H. (Habibul), Kibriya, M.G. (Muhammad), Whittemore, A.S. (Alice S.), John, E.M. (Esther M.), Malone, K.E. (Kathleen E.), Gammon, M.D. (Marilie), Santella, R.M. (Regina M.), Ursin, G. (Giske), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Casey, G. (Graham), Hunter, D.J. (David J.), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Diver, W.R. (Ryan), Haiman, C.A. (Christopher A.), Schumacher, F.R. (Fredrick), Henderson, B.E. (Brian), Le Marchand, L. (Loic), Berg, C.D. (Christine), Chanock, S.J. (Stephen), Figueroa, J.D. (Jonine), Hoover, R.N. (Robert N.), Lambrechts, D. (Diether), Neven, P. (Patrick), Wildiers, H. (Hans), Limbergen, E. (Erik) van, Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Verhoef, S., Cornelissen, S. (Sten), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (Ji-Yeob), Park, S.K. (Sue K.), Yoo, K.Y., Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hiroji), Tajima, K. (Kazuo), Guénel, P. (Pascal), Truong, T. (Thérèse), Mulot, C. (Claire), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Surowy, H. (Harald), Sohn, C. (Christof), Wu, A.H. (Anna H), Tseng, C.-C. (Chiu-chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.H. (Soo Hwang), Yip, C.H. (Cheng Har), Taib, N.A.M. (Nur Aishah Mohd), Tan, G.-H. (Gie-Hooi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Collée, J.M. (Margriet), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Hopper, J. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Shen, C-Y. (Chen-Yang), Hsiung, C.-N. (Chia-Ni), Wu, P.-E. (Pei-Ei), Hou, M.-F. (Ming-Feng), Kristensen, V. (Vessela), Nord, S. (Silje), Alnæs, G.G. (Grethe), Giles, G.G. (Graham G.), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Canzian, F. (Federico), Trichopoulos, D. (Dimitrios), Peeters, P.H.M., Lund, E. (Eiliv), Sund, R. (Reijo), Khaw, K.T., Gunter, M.J. (Marc J.), Palli, D. (Domenico), Mortensen, L.M. (Lotte Maxild), Dossus, L. (Laure), Huerta, J.-M. (Jose-Maria), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Sutter, C. (Christian), Yang, R. (Rongxi), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, J.M. (Joost), Miao, X., Chia, K.S. (Kee Seng), Chan, C.W. (Ching Wan), Fasching, P.A. (Peter), Hein, R. (Rebecca), Beckmann, M.W. (Matthias), Haeberle, L. (Lothar), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), Brinton, L.A. (Louise), García-Closas, M. (Montserrat), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Brauch, H. (Hiltrud), Hamann, U. (Ute), Brüning, T. (Thomas), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Bernard, L. (Loris), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Kabisch, M. (Maria), Torres, D. (Diana), Neuhausen, S.L. (Susan), Anton-Culver, H. (Hoda), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Simard, J. (Jacques), Pharoah, P.P.D.P. (Paul P.D.P.), Kraft, P. (Peter), Dunning, A.M. (Alison), Chenevix-Trench, G. (Georgia), Hall, P. (Per), and Easton, D.F. (Douglas)
Abstract: Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ∼14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 × 10 â '8. Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.
Published: 2015
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17. Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriers

Author: Peterlongo, P. (Paolo), Chang-Claude, J. (Jenny), Moysich, K.B. (Kirsten), Rudolph, A. (Anja), Schmutzler, R.K. (Rita), Simard, J. (Jacques), Soucy, P. (Penny), Eeles, R. (Rosalind), Easton, D.F. (Douglas), Hamann, U. (Ute), Wilkening, S. (Stefan), Chen, B. (Bowang), Rookus, M.A. (Matti), Schmidt, M.K. (Marjanka), Baan, F.H. (Frederieke) van der, Spurdle, A.B. (Amanda), Walker, L.C. (Logan), Lose, F. (Felicity), Maia, A.-T. (Ana-Teresa), Montagna, M. (Marco), Matricardi, L. (Laura), Lubinski, J. (Jan), Jakubowska, A. (Anna), Garcia, E.B.G., Olopade, O.I. (Olofunmilayo), Nussbaum, R.L. (Robert L.), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Rebbeck, R. (Timothy), Arun, B.K. (Banu), Karlan, B.Y. (Beth), Orsulic, S. (Sandra), Lester, K.J. (Kathryn), Chung, W.K. (Wendy K.), Miron, A. (Alexander), Southey, M.C. (Melissa), Goldgar, D. (David), Buys, S.S. (Saundra), Janavicius, R. (Ramunas), Dorfling, C.M. (Cecilia), Rensburg, E.J. (Elizabeth) van, Ding, Y.C. (Yuan Chun), Neuhausen, S.L. (Susan), Hansen, T.V.O. (Thomas), Gerdes, A.-M. (Anne-Marie), Ejlertsen, B. (Bent), Jønson, L. (Lars), Osorio, A. (Ana), Martínez-Bouzas, C. (Cristina), Benítez, J. (Javier), Conway, E.E. (Edye E.), Blazer, K.R. (Kathleen R.), Weitzel, J.N. (Jeffrey), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Zaffaroni, D. (Daniela), Scuvera, G. (Giulietta), Barile, M. (Monica), Ficarazzi, F. (Filomena), Mariette, F. (F.), Fortuzzi, S. (S.), Viel, A. (Alessandra), Giannini, G. (Giuseppe), Papi, L. (Laura), Martayan, A. (Aline), Tibiletti, M.G. (Maria Grazia), Radice, P. (Paolo), Vratimos, A. (Athanassios), Fostira, F. (Florentia), Garber, J. (Judy), Donaldson, A. (Alan), Brewer, C. (Carole), Foo, C. (Claire), Evans, D.G. (Gareth), Frost, D. (Debra), Eccles, D. (Diana), Brady, A. (A.), Cook, J. (Jackie), Tischkowitz, M. (Marc), Adlard, L., Barwell, J. (Julian), Walker, L.J. (Lisa), Izatt, L. (Louise), Side, L. (Lucy), Kennedy, M.J. (John), Rogers, M.T. (Mark), Porteous, M.E. (Mary), Morrison, P.J. (Patrick), Platte, R. (Radka), Davidson, R. (Rosemarie), Hodgson, S. (Shirley), Ellis, S.D. (Steve), Cole, T. (Trevor), Godwin, A.K. (Andrew), Claes, K.B.M. (Kathleen B.M.), Van Maerken, T. (Tom), Meindl, A. (Alfons), Gehrig, P.A. (Paola A.), Sutter, C. (Christian), Engel, C. (Christoph), Niederacher, D. (Dieter), Steinemann, D. (Doris), Plendl, H. (Hansjoerg), Kast, K. (Karin), Rhiem, K. (Kerstin), Ditsch, N. (Nina), Arnold, N. (Norbert), Varon-Mateeva, R. (Raymonda), Wapenschmidt, B. (Barbara), Wang-Gohrke, S. (Shan), Bressac-de Paillerets, B. (Brigitte), Buecher, B. (Bruno), Delnatte, C.D. (Capucine), Houdayer, C. (Claude), Stoppa-Lyonnet, D. (Dominique), Damiola, F. (Francesca), Coupier, I. (Isabelle), Barjhoux, L. (Laure), Vénat-Bouvet, L. (Laurence), Golmard, L. (Lisa), Boutry-Kryza, N. (N.), Sinilnikova, O. (Olga), Caron, O. (Olivier), Pujol, P. (Pascal), Mazoyer, S. (Sylvie), Belotti, M. (Muriel), Piedmonte, M. (Marion), Friedlander, M.L. (Michael L.), Rodriguez, G. (Gustavo), Copeland, L.J. (Larry J.), Hoya, M. (Miguel) de La, Perez-Segura, P. (Pedro), Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Os, T.A.M. (Theo) van, Meijers-Heijboer, E.J. (Hanne), Hout, A.H. (Annemarie) van der, Vreeswijk, M.P. (Maaike), Hoogerbrugge, N. (Nicoline), Ausems, M.G.E.M. (Margreet), Doorn, H.C. (Lena) van, Collée, J.M. (Margriet), Olah, E., Díez, O. (Orland), Blanco, I. (Ignacio), Lázaro, C. (Conxi), Brunet, J. (Joan), Feliubadaló, L. (L.), Cybulski, C. (Cezary), Gronwald, J. (Jacek), Durda, K. (Katarzyna), Jaworska-Bieniek, K. (Katarzyna), Sukiennicki, G. (Grzegorz), Arason, A. (Adalgeir), Chiquette, J. (Jocelyne), Teixeira, P.J., Olswold, C. (Curtis), Couch, F.J. (Fergus), Lindor, N.M. (Noralane), Wang, X. (X.), Szabo, C. (Csilla), Offit, K. (Kenneth), Corines, M. (Marina), Jacobs, L. (Lauren), Robson, M.E. (Mark E.), Zhang, L. (Lingling), Joseph, V. (Vijai), Berger, A. (Andreas), Singer, C.F. (Christian), Rappaport, C. (Christine), Kaulich, D.G. (Daphne Gschwantler), Pfeiler, G. (Georg), Tea, M.-K., Phelan, C. (Catherine), Greene, M.H. (Mark), Mai, P.L. (Phuong), Rennert, G. (Gad), Mulligan, A.-M. (Anna-Marie), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Andrulis, I.L. (Irene), Toland, A.E. (Amanda), Bojesen, A. (Anders), Pedersen, I.S. (Inge Sokilde), Thomassen, M. (Mads), Jensen, U.B., Laitman, Y. (Yael), Rantala, J. (Johanna), Wachenfeldt, A. (Anna) von, Ehrencrona, H. (Hans), Askmalm, M.S. (Marie), Borg, Å. (Åke), Kuchenbaecker, K.B. (Karoline), McGuffog, L. (Lesley), Barrowdale, D. (Daniel), Healey, S. (Sue), Lee, A. (Andrew), Pharoah, P.D.P. (Paul D.P.), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Friedman, E. (Eitan), Peterlongo, P. (Paolo), Chang-Claude, J. (Jenny), Moysich, K.B. (Kirsten), Rudolph, A. (Anja), Schmutzler, R.K. (Rita), Simard, J. (Jacques), Soucy, P. (Penny), Eeles, R. (Rosalind), Easton, D.F. (Douglas), Hamann, U. (Ute), Wilkening, S. (Stefan), Chen, B. (Bowang), Rookus, M.A. (Matti), Schmidt, M.K. (Marjanka), Baan, F.H. (Frederieke) van der, Spurdle, A.B. (Amanda), Walker, L.C. (Logan), Lose, F. (Felicity), Maia, A.-T. (Ana-Teresa), Montagna, M. (Marco), Matricardi, L. (Laura), Lubinski, J. (Jan), Jakubowska, A. (Anna), Garcia, E.B.G., Olopade, O.I. (Olofunmilayo), Nussbaum, R.L. (Robert L.), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Rebbeck, R. (Timothy), Arun, B.K. (Banu), Karlan, B.Y. (Beth), Orsulic, S. (Sandra), Lester, K.J. (Kathryn), Chung, W.K. (Wendy K.), Miron, A. (Alexander), Southey, M.C. (Melissa), Goldgar, D. (David), Buys, S.S. (Saundra), Janavicius, R. (Ramunas), Dorfling, C.M. (Cecilia), Rensburg, E.J. (Elizabeth) van, Ding, Y.C. (Yuan Chun), Neuhausen, S.L. (Susan), Hansen, T.V.O. (Thomas), Gerdes, A.-M. (Anne-Marie), Ejlertsen, B. (Bent), Jønson, L. (Lars), Osorio, A. (Ana), Martínez-Bouzas, C. (Cristina), Benítez, J. (Javier), Conway, E.E. (Edye E.), Blazer, K.R. (Kathleen R.), Weitzel, J.N. (Jeffrey), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Zaffaroni, D. (Daniela), Scuvera, G. (Giulietta), Barile, M. (Monica), Ficarazzi, F. (Filomena), Mariette, F. (F.), Fortuzzi, S. (S.), Viel, A. (Alessandra), Giannini, G. (Giuseppe), Papi, L. (Laura), Martayan, A. (Aline), Tibiletti, M.G. (Maria Grazia), Radice, P. (Paolo), Vratimos, A. (Athanassios), Fostira, F. (Florentia), Garber, J. (Judy), Donaldson, A. (Alan), Brewer, C. (Carole), Foo, C. (Claire), Evans, D.G. (Gareth), Frost, D. (Debra), Eccles, D. (Diana), Brady, A. (A.), Cook, J. (Jackie), Tischkowitz, M. (Marc), Adlard, L., Barwell, J. (Julian), Walker, L.J. (Lisa), Izatt, L. (Louise), Side, L. (Lucy), Kennedy, M.J. (John), Rogers, M.T. (Mark), Porteous, M.E. (Mary), Morrison, P.J. (Patrick), Platte, R. (Radka), Davidson, R. (Rosemarie), Hodgson, S. (Shirley), Ellis, S.D. (Steve), Cole, T. (Trevor), Godwin, A.K. (Andrew), Claes, K.B.M. (Kathleen B.M.), Van Maerken, T. (Tom), Meindl, A. (Alfons), Gehrig, P.A. (Paola A.), Sutter, C. (Christian), Engel, C. (Christoph), Niederacher, D. (Dieter), Steinemann, D. (Doris), Plendl, H. (Hansjoerg), Kast, K. (Karin), Rhiem, K. (Kerstin), Ditsch, N. (Nina), Arnold, N. (Norbert), Varon-Mateeva, R. (Raymonda), Wapenschmidt, B. (Barbara), Wang-Gohrke, S. (Shan), Bressac-de Paillerets, B. (Brigitte), Buecher, B. (Bruno), Delnatte, C.D. (Capucine), Houdayer, C. (Claude), Stoppa-Lyonnet, D. (Dominique), Damiola, F. (Francesca), Coupier, I. (Isabelle), Barjhoux, L. (Laure), Vénat-Bouvet, L. (Laurence), Golmard, L. (Lisa), Boutry-Kryza, N. (N.), Sinilnikova, O. (Olga), Caron, O. (Olivier), Pujol, P. (Pascal), Mazoyer, S. (Sylvie), Belotti, M. (Muriel), Piedmonte, M. (Marion), Friedlander, M.L. (Michael L.), Rodriguez, G. (Gustavo), Copeland, L.J. (Larry J.), Hoya, M. (Miguel) de La, Perez-Segura, P. (Pedro), Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Os, T.A.M. (Theo) van, Meijers-Heijboer, E.J. (Hanne), Hout, A.H. (Annemarie) van der, Vreeswijk, M.P. (Maaike), Hoogerbrugge, N. (Nicoline), Ausems, M.G.E.M. (Margreet), Doorn, H.C. (Lena) van, Collée, J.M. (Margriet), Olah, E., Díez, O. (Orland), Blanco, I. (Ignacio), Lázaro, C. (Conxi), Brunet, J. (Joan), Feliubadaló, L. (L.), Cybulski, C. (Cezary), Gronwald, J. (Jacek), Durda, K. (Katarzyna), Jaworska-Bieniek, K. (Katarzyna), Sukiennicki, G. (Grzegorz), Arason, A. (Adalgeir), Chiquette, J. (Jocelyne), Teixeira, P.J., Olswold, C. (Curtis), Couch, F.J. (Fergus), Lindor, N.M. (Noralane), Wang, X. (X.), Szabo, C. (Csilla), Offit, K. (Kenneth), Corines, M. (Marina), Jacobs, L. (Lauren), Robson, M.E. (Mark E.), Zhang, L. (Lingling), Joseph, V. (Vijai), Berger, A. (Andreas), Singer, C.F. (Christian), Rappaport, C. (Christine), Kaulich, D.G. (Daphne Gschwantler), Pfeiler, G. (Georg), Tea, M.-K., Phelan, C. (Catherine), Greene, M.H. (Mark), Mai, P.L. (Phuong), Rennert, G. (Gad), Mulligan, A.-M. (Anna-Marie), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Andrulis, I.L. (Irene), Toland, A.E. (Amanda), Bojesen, A. (Anders), Pedersen, I.S. (Inge Sokilde), Thomassen, M. (Mads), Jensen, U.B., Laitman, Y. (Yael), Rantala, J. (Johanna), Wachenfeldt, A. (Anna) von, Ehrencrona, H. (Hans), Askmalm, M.S. (Marie), Borg, Å. (Åke), Kuchenbaecker, K.B. (Karoline), McGuffog, L. (Lesley), Barrowdale, D. (Daniel), Healey, S. (Sue), Lee, A. (Andrew), Pharoah, P.D.P. (Paul D.P.), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), and Friedman, E. (Eitan)
Abstract: Background: BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same mutation suggests the existence of genetic and nongenetic modifying factors. In this study, we evaluated the putative role of variants inmany candidate modifier genes. Methods: Genotyping data from 15,252 BRCA1 and 8,211 BRCA2 mutation carriers, for known variants (n = 3,248) located within or around 445 candidate genes, were available through the iCOGS custom-designed array. Breast and ovarian cancer association analysiswas performed within a retrospective cohort approach. Results: The observed P values of association ranged between 0.005 and 1.000. None of the variants was significantly associated with breast or ovarian cancer risk in either BRCA1 or BRCA2 mutation carriers, after multiple testing adjustments. Conclusion: There is little evidence that any of the evaluated candidate variants act as modifiers of breast and/or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers. Impact: Genome-wide association studies have been more successful at identifying genetic modifiers of BRCA1/2 penetrance than candidate gene studies.
Published: 2015
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18. Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations

Author: Brohet, R.M. (Richard), Velthuizen, S.J.C.M. (Sandra), Hogervorst, F.B.L. (Frans), Meijers-Heijboer, E.J. (Hanne), Seynaeve, C.M. (Caroline), Collée, J.M. (Margriet), Verhoef, S., Ausems, M.G.E.M. (Margreet), Hoogerbrugge, N. (Nicoline), Asperen, C.J. (Christi) van, Garcia, E.B.G., Menko, F. (Fred), Oosterwijk, J.C. (Jan), Devilee, P. (Peter), Veer, L.J. (Laura) van 't, Leeuwen, F.E. (Flora) van, Easton, D.F. (Douglas), Rookus, M.A. (M.), Antoniou, A.C. (Antonis), Rookus, M.A. (Matti), Verhoef, S. (S.), Schmidt, M.K. (Marjanka), Lange, J.L. (J.) de, Ouweland, A.M.W. (Ans) van den, Hooning, M.J. (Maartje), Deurzen, C.H.M. (Carolien) van, Wijnen, J.T. (Juul), Tollenaar, R.A.E.M. (Rob), Devilee, P. (P.), Cronenburg, T.C.T.E.F. van, Kets, C.M. (Marleen), Mensenkam, A.R. (A.), Luij, R.B. (R.) van der, Aalfs, C.M. (Cora), Os, T.A.M. (Theo) van, Gille, J.J. (Johan), Waisfisz, Q. (Quinten), Gómez García, E.B. (Encarna), Blok, M.J. (Marinus), Hout, A.H. (Annemarie) van der, Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Vasen, H. (Hans), Brohet, R.M. (Richard), Velthuizen, S.J.C.M. (Sandra), Hogervorst, F.B.L. (Frans), Meijers-Heijboer, E.J. (Hanne), Seynaeve, C.M. (Caroline), Collée, J.M. (Margriet), Verhoef, S., Ausems, M.G.E.M. (Margreet), Hoogerbrugge, N. (Nicoline), Asperen, C.J. (Christi) van, Garcia, E.B.G., Menko, F. (Fred), Oosterwijk, J.C. (Jan), Devilee, P. (Peter), Veer, L.J. (Laura) van 't, Leeuwen, F.E. (Flora) van, Easton, D.F. (Douglas), Rookus, M.A. (M.), Antoniou, A.C. (Antonis), Rookus, M.A. (Matti), Verhoef, S. (S.), Schmidt, M.K. (Marjanka), Lange, J.L. (J.) de, Ouweland, A.M.W. (Ans) van den, Hooning, M.J. (Maartje), Deurzen, C.H.M. (Carolien) van, Wijnen, J.T. (Juul), Tollenaar, R.A.E.M. (Rob), Devilee, P. (P.), Cronenburg, T.C.T.E.F. van, Kets, C.M. (Marleen), Mensenkam, A.R. (A.), Luij, R.B. (R.) van der, Aalfs, C.M. (Cora), Os, T.A.M. (Theo) van, Gille, J.J. (Johan), Waisfisz, Q. (Quinten), Gómez García, E.B. (Encarna), Blok, M.J. (Marinus), Hout, A.H. (Annemarie) van der, Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, and Vasen, H. (Hans)
Abstract: Background: BRCA1 or BRCA2 mutations confer increased risks of breast and ovarian cancer, but risks have been found to vary across studies and populations. Methods: We ascertained pedigree data of 582 BRCA1 and 176 BRCA2 families and studied the variation in breast and ovarian cancer risks using a modified segregation analysis model. Results: The average cumulative breast cancer risk by age 70 years was estimated to be 45% (95% CI 36 to 52%) for BRCA1 and 27% (95% CI 14 to 38%) for BRCA2 mutation carriers. The corresponding cumulative risks for ovarian cancer were 31% (95% CI 17 to 43%) for BRCA1 and 6% (95% CI 2 to 11%) for BRCA2 mutation carriers. In BRCA1 families, breast cancer relative risk (RR) increased with more recent birth cohort (pheterogeneity = 0.0006) and stronger family histories of breast cancer (pheterogeneity<0.001). For BRCA1, our data suggest a significant association between the location of the mutation and the ratio of breast to ovarian cancer (p<0.001). By contrast, in BRCA2 families, no evidence was found for risk heterogeneity by birth cohort, family history or mutation location. Conclusions: BRCA1 mutation carriers conferred lower overall breast and ovarian cancer risks than reported so far, while the estimates of BRCA2 mutations were among the lowest. The low estimates for BRCA1 might be due to older birth cohorts, a moderate family history
Published: 2014
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19. Survival and contralateral breast cancer in CHEK2 1100delC breast cancer patients: impact of adjuvant chemotherapy

Author: Kriege, M. (Mieke), Hollestelle, A. (Antoinette), Jager, A. (Agnes), Huijts, P. (Petra), Berns, P.M.J.J. (Els), Sieuwerts, A.M. (Anieta), Meijer van Gelder, M.E. (Marion), Collée, J.M. (Margriet), Devilee, P. (Peter), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Seynaeve, C.M. (Caroline), Kriege, M. (Mieke), Hollestelle, A. (Antoinette), Jager, A. (Agnes), Huijts, P. (Petra), Berns, P.M.J.J. (Els), Sieuwerts, A.M. (Anieta), Meijer van Gelder, M.E. (Marion), Collée, J.M. (Margriet), Devilee, P. (Peter), Hooning, M.J. (Maartje), Martens, J.W.M. (John), and Seynaeve, C.M. (Caroline)
Published: 2014
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20. DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author: Osorio, A. (Ana), Milne, R.L. (Roger), Kuchenbaecker, K.B. (Karoline), Vaclová, T. (Tereza), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Peterlongo, P. (Paolo), Blanco, I. (Ignacio), Hoya, M. (Miguel) de La, Durán, M. (Mercedes), Díez, O. (Orland), Ramon Y Cajal, T., Konstantopoulou, I. (I.), Martínez-Bouzas, C. (Cristina), Andrés Conejero, R. (Raquel), Soucy, P. (Penny), McGuffog, L. (Lesley), Barrowdale, D. (Daniel), Lee, A. (Andrew), Arver, B. (Brita Wasteson), Rantala, J. (Johanna), Loman, N. (Niklas), Ehrencrona, H. (Hans), Olopade, O.I. (Olofunmilayo), Beattie, M.S. (Mary), Domchek, S.M. (Susan), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Arun, B.K. (Banu), Karlan, B.Y. (Beth), Walsh, C.S. (Christine), Lester, K.J. (Kathryn), John, E.M. (Esther), Whittemore, A.S. (Alice), Daly, M.B. (Mary), Southey, M.C. (Melissa), Hopper, J.L. (John), Terry, M.-B. (Mary-Beth), Buys, S.S. (Saundra), Janavicius, R. (Ramunas), Dorfling, C.M. (Cecilia), Rensburg, E.J. (Elizabeth) van, Steele, L. (Linda), Neuhausen, S.L. (Susan), Ding, Y.C. (Yuan), Hansen, T.V.O. (Thomas), Jønson, L. (Lars), Ejlertsen, B. (Bent), Gerdes, A-M. (Anne-Marie), Infante, J. (Jon), Herráez, B. (Belén), Moreno, L.T. (Leticia Thais), Weitzel, J.N. (Jeffrey), Herzog, J. (Josef), Weeman, K. (Kisa), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Zaffaroni, D. (D.), Scuvera, G. (Giulietta), Bonnani, B. (Bernardo), Mariette, F. (F.), Volorio, S. (Sara), Viel, A. (Alessandra), Varesco, L. (Liliana), Papi, L. (Laura), Ottini, L. (Laura), Tibiletti, M.G. (Maria Grazia), Radice, P. (Paolo), Yannoukakos, D. (Drakoulis), Garber, J., Ellis, S.D. (Steve), Frost, D. (Debra), Platte, R. (Radka), Fineberg, E. (Elena), Evans, D.G. (Gareth), Lalloo, F. (Fiona), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, J.W. (Julian), Davidson, R. (Rosemarie), Cole, T.J. (Trevor), Eccles, D. (Diana), Cook, J. (Jackie), Hodgson, S.V. (Shirley), Brewer, C. (Carole), Tischkowitz, M. (Marc), Douglas, F. (Fiona), Porteous, M.E. (Mary), Side, L. (Lucy), Walker, L.J. (Lisa), Morrison, P.J. (Patrick), Donaldson, A. (Alan), Kennedy, J. (John), Foo, C. (Claire), Godwin, A.K. (Andrew), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Rhiem, K. (Kerstin), Engel, C. (Christoph), Meindl, A. (Alfons), Ditsch, N. (Nina), Arnold, N. (Norbert), Plendl, H. (Hansjoerg), Niederacher, D. (Dieter), Sutter, C. (Christian), Wang-Gohrke, S. (Shan), Steinemann, D. (Doris), Preisler-Adams, S. (Sabine), Kast, K. (Karin), Varon-Mateeva, R. (Raymonda), Gehrig, P.A. (Paola A.), Stoppa-Lyonnet, D. (Dominique), Sinilnikova, O. (Olga), Mazoyer, S. (Sylvie), Damiola, F. (Francesca), Poppe, B. (Bruce), Claes, K. (Kathleen), Piedmonte, M. (Marion), Tucker, K. (Kathryn), Backes, F.J. (Floor), Rodríguez, P.M., Brewster, W. (Wendy), Wakeley, K. (Katie), Rutherford, T. (Thomas), Caldes, T. (Trinidad), Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Rookus, M.A. (Matti), Os, T.A.M. (Theo) van, Kolk, L.E. (Lizet) van der, Lange, J.L. (J.) de, Meijers-Heijboer, E.J. (Hanne), Hout, A.H. (Annemarie) van der, Asperen, C.J. (Christi) van, Gómez García, E.B. (Encarna), Hoogerbrugge, N. (Nicoline), Collée, J.M. (Margriet), Deurzen, C.H.M. (Carolien) van, Luijt, R.B. (Rob) van der, Devilee, P. (Peter), Olah, E. (Edith), Lázaro, C. (Conxi), Teulé, A. (A.), Menéndez, M. (Mireia), Jakubowska, A. (Anna), Cybulski, C. (Cezary), Gronwald, J. (Jacek), Lubinski, J. (Jan), Durda, K. (Katarzyna), Jaworska-Bieniek, K. (Katarzyna), Johannson, O.T. (Oskar), Maugard, C., Montagna, M. (Marco), Tognazzo, S. (Silvia), Teixeira, P.J., Healey, S. (Sue), Olswold, C. (Curtis), Guidugli, L. (Lucia), Lindor, N.M. (Noralane), Slager, S. (Susan), Szabo, C. (Csilla), Vijai, J. (Joseph), Robson, M. (Mark), Kauff, N. (Noah), Zhang, L. (Lingling), Rau-Murthy, R. (Rohini), Fink-Retter, A. (Anneliese), Singer, C.F. (Christian), Rappaport, C. (Christine), Geschwantler Kaulich, D. (Daphne), Pfeiler, G. (Georg), Tea, M.-K., Berger, A. (Annemarie), Phelan, C. (Catherine), Greene, M.H. (Mark), Mai, P.L. (Phuong), Lejbkowicz, F. (Flavio), Andrulis, I.L. (Irene), Mulligan, A.M. (Anna Marie), Glendon, G. (Gord), Toland, A.E. (Amanda), Bojesen, S.E. (Stig), Pedersen, I.S. (Inge Sokilde), Sunde, L. (Lone), Thomassen, M. (Mads), Kruse, T.A. (Torben), Jensen, U.B., Friedman, E. (Eitan), Laitman, Y. (Yael), Shimon, S.P. (Shani Paluch), Simard, J. (Jacques), Easton, D.F. (Douglas), Offit, K. (Kenneth), Couch, F.J. (Fergus), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Benítez, J. (Javier), Osorio, A. (Ana), Milne, R.L. (Roger), Kuchenbaecker, K.B. (Karoline), Vaclová, T. (Tereza), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Peterlongo, P. (Paolo), Blanco, I. (Ignacio), Hoya, M. (Miguel) de La, Durán, M. (Mercedes), Díez, O. (Orland), Ramon Y Cajal, T., Konstantopoulou, I. (I.), Martínez-Bouzas, C. (Cristina), Andrés Conejero, R. (Raquel), Soucy, P. (Penny), McGuffog, L. (Lesley), Barrowdale, D. (Daniel), Lee, A. (Andrew), Arver, B. (Brita Wasteson), Rantala, J. (Johanna), Loman, N. (Niklas), Ehrencrona, H. (Hans), Olopade, O.I. (Olofunmilayo), Beattie, M.S. (Mary), Domchek, S.M. (Susan), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Arun, B.K. (Banu), Karlan, B.Y. (Beth), Walsh, C.S. (Christine), Lester, K.J. (Kathryn), John, E.M. (Esther), Whittemore, A.S. (Alice), Daly, M.B. (Mary), Southey, M.C. (Melissa), Hopper, J.L. (John), Terry, M.-B. (Mary-Beth), Buys, S.S. (Saundra), Janavicius, R. (Ramunas), Dorfling, C.M. (Cecilia), Rensburg, E.J. (Elizabeth) van, Steele, L. (Linda), Neuhausen, S.L. (Susan), Ding, Y.C. (Yuan), Hansen, T.V.O. (Thomas), Jønson, L. (Lars), Ejlertsen, B. (Bent), Gerdes, A-M. (Anne-Marie), Infante, J. (Jon), Herráez, B. (Belén), Moreno, L.T. (Leticia Thais), Weitzel, J.N. (Jeffrey), Herzog, J. (Josef), Weeman, K. (Kisa), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Zaffaroni, D. (D.), Scuvera, G. (Giulietta), Bonnani, B. (Bernardo), Mariette, F. (F.), Volorio, S. (Sara), Viel, A. (Alessandra), Varesco, L. (Liliana), Papi, L. (Laura), Ottini, L. (Laura), Tibiletti, M.G. (Maria Grazia), Radice, P. (Paolo), Yannoukakos, D. (Drakoulis), Garber, J., Ellis, S.D. (Steve), Frost, D. (Debra), Platte, R. (Radka), Fineberg, E. (Elena), Evans, D.G. (Gareth), Lalloo, F. (Fiona), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, J.W. (Julian), Davidson, R. (Rosemarie), Cole, T.J. (Trevor), Eccles, D. (Diana), Cook, J. (Jackie), Hodgson, S.V. (Shirley), Brewer, C. (Carole), Tischkowitz, M. (Marc), Douglas, F. (Fiona), Porteous, M.E. (Mary), Side, L. (Lucy), Walker, L.J. (Lisa), Morrison, P.J. (Patrick), Donaldson, A. (Alan), Kennedy, J. (John), Foo, C. (Claire), Godwin, A.K. (Andrew), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Rhiem, K. (Kerstin), Engel, C. (Christoph), Meindl, A. (Alfons), Ditsch, N. (Nina), Arnold, N. (Norbert), Plendl, H. (Hansjoerg), Niederacher, D. (Dieter), Sutter, C. (Christian), Wang-Gohrke, S. (Shan), Steinemann, D. (Doris), Preisler-Adams, S. (Sabine), Kast, K. (Karin), Varon-Mateeva, R. (Raymonda), Gehrig, P.A. (Paola A.), Stoppa-Lyonnet, D. (Dominique), Sinilnikova, O. (Olga), Mazoyer, S. (Sylvie), Damiola, F. (Francesca), Poppe, B. (Bruce), Claes, K. (Kathleen), Piedmonte, M. (Marion), Tucker, K. (Kathryn), Backes, F.J. (Floor), Rodríguez, P.M., Brewster, W. (Wendy), Wakeley, K. (Katie), Rutherford, T. (Thomas), Caldes, T. (Trinidad), Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Rookus, M.A. (Matti), Os, T.A.M. (Theo) van, Kolk, L.E. (Lizet) van der, Lange, J.L. (J.) de, Meijers-Heijboer, E.J. (Hanne), Hout, A.H. (Annemarie) van der, Asperen, C.J. (Christi) van, Gómez García, E.B. (Encarna), Hoogerbrugge, N. (Nicoline), Collée, J.M. (Margriet), Deurzen, C.H.M. (Carolien) van, Luijt, R.B. (Rob) van der, Devilee, P. (Peter), Olah, E. (Edith), Lázaro, C. (Conxi), Teulé, A. (A.), Menéndez, M. (Mireia), Jakubowska, A. (Anna), Cybulski, C. (Cezary), Gronwald, J. (Jacek), Lubinski, J. (Jan), Durda, K. (Katarzyna), Jaworska-Bieniek, K. (Katarzyna), Johannson, O.T. (Oskar), Maugard, C., Montagna, M. (Marco), Tognazzo, S. (Silvia), Teixeira, P.J., Healey, S. (Sue), Olswold, C. (Curtis), Guidugli, L. (Lucia), Lindor, N.M. (Noralane), Slager, S. (Susan), Szabo, C. (Csilla), Vijai, J. (Joseph), Robson, M. (Mark), Kauff, N. (Noah), Zhang, L. (Lingling), Rau-Murthy, R. (Rohini), Fink-Retter, A. (Anneliese), Singer, C.F. (Christian), Rappaport, C. (Christine), Geschwantler Kaulich, D. (Daphne), Pfeiler, G. (Georg), Tea, M.-K., Berger, A. (Annemarie), Phelan, C. (Catherine), Greene, M.H. (Mark), Mai, P.L. (Phuong), Lejbkowicz, F. (Flavio), Andrulis, I.L. (Irene), Mulligan, A.M. (Anna Marie), Glendon, G. (Gord), Toland, A.E. (Amanda), Bojesen, S.E. (Stig), Pedersen, I.S. (Inge Sokilde), Sunde, L. (Lone), Thomassen, M. (Mads), Kruse, T.A. (Torben), Jensen, U.B., Friedman, E. (Eitan), Laitman, Y. (Yael), Shimon, S.P. (Shani Paluch), Simard, J. (Jacques), Easton, D.F. (Douglas), Offit, K. (Kenneth), Couch, F.J. (Fergus), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), and Benítez, J. (Javier)
Abstract: Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.1
Published: 2014
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21. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

Author: Ghoussaini, M. (Maya), Edwards, S.L. (Stacey), Michailidou, K. (Kyriaki), Nord, S. (Silje), Cowper-Sallari, R. (Richard), Desai, K. (Kinjal), Kar, S. (Siddhartha), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Glubb, D.M. (Dylan), Beesley, J. (Jonathan), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dicks, E. (Ed), Guo, Q. (Qi), Schmidt, M.K. (Marjanka), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mats), Klevebring, D. (Daniel), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Lambrechts, D. (Diether), Thienpont, B. (Bernard), Neven, P. (Patrick), Wildiers, H. (Hans), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Rutgers, E.J.T. (Emiel), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Gibson, L.J. (Lorna), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Hall, P. (Per), Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Noh, D-Y. (Dong-Young), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Yatabe, Y. (Yasushi), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Wu, A.H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, Q. (Qiuyin), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Lee, D.S.C. (Daphne S.C.), Wong, T.Y. (Tien Yin), Hooning, M.J. (Maartje), Martens, J.W.M. (John W. M.), Collée, J.M. (Margriet), Deurzen, C.H.M. (Carolien) van, Hopper, J.L. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Kapuscinski, M.K. (Miroslav K.), Shen, C-Y. (Chen-Yang), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Chen, S.-T., Alnæs, G.G. (Grethe), Borresen-Dale, A.-L. (Anne-Lise), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, M. (Mikael), Miao, X., Buhari, S.A.B.S. (Shaik Ahmad Bin Syed), Teo, Y.Y. (Yik Ying), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Koto, Y.-D. (Yon-Dschun), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Volorio, S. (Sara), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Helbig, S. (Sonja), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Hamann, U. (Ute), Torres, D. (Diana), Zheng, W. (Wei), Long, J. (Jirong), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Maranian, M. (Melanie), Healey, S. (Sue), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Santiago, I. (Ines) de, Carroll, J. (Jason), Caldas, C. (Carlos), Brown, M. (Melissa), Lupien, M. (Mathieu), Kristensen, V. (Vessela), Pharoah, P.D.P. (Paul), Chenevix-Trench, G. (Georgia), French, J.D. (Juliet), Easton, D.F. (Douglas), Dunning, A.M. (Alison), Webb, P. (Penny), De Fazio, A. (Anna), Ghoussaini, M. (Maya), Edwards, S.L. (Stacey), Michailidou, K. (Kyriaki), Nord, S. (Silje), Cowper-Sallari, R. (Richard), Desai, K. (Kinjal), Kar, S. (Siddhartha), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Glubb, D.M. (Dylan), Beesley, J. (Jonathan), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dicks, E. (Ed), Guo, Q. (Qi), Schmidt, M.K. (Marjanka), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mats), Klevebring, D. (Daniel), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Lambrechts, D. (Diether), Thienpont, B. (Bernard), Neven, P. (Patrick), Wildiers, H. (Hans), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Rutgers, E.J.T. (Emiel), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Gibson, L.J. (Lorna), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Hall, P. (Per), Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Noh, D-Y. (Dong-Young), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Yatabe, Y. (Yasushi), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Wu, A.H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, Q. (Qiuyin), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Lee, D.S.C. (Daphne S.C.), Wong, T.Y. (Tien Yin), Hooning, M.J. (Maartje), Martens, J.W.M. (John W. M.), Collée, J.M. (Margriet), Deurzen, C.H.M. (Carolien) van, Hopper, J.L. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Kapuscinski, M.K. (Miroslav K.), Shen, C-Y. (Chen-Yang), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Chen, S.-T., Alnæs, G.G. (Grethe), Borresen-Dale, A.-L. (Anne-Lise), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, M. (Mikael), Miao, X., Buhari, S.A.B.S. (Shaik Ahmad Bin Syed), Teo, Y.Y. (Yik Ying), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Koto, Y.-D. (Yon-Dschun), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Volorio, S. (Sara), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Helbig, S. (Sonja), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Hamann, U. (Ute), Torres, D. (Diana), Zheng, W. (Wei), Long, J. (Jirong), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Maranian, M. (Melanie), Healey, S. (Sue), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Santiago, I. (Ines) de, Carroll, J. (Jason), Caldas, C. (Carlos), Brown, M. (Melissa), Lupien, M. (Mathieu), Kristensen, V. (Vessela), Pharoah, P.D.P. (Paul), Chenevix-Trench, G. (Georgia), French, J.D. (Juliet), Easton, D.F. (Douglas), Dunning, A.M. (Alison), Webb, P. (Penny), and De Fazio, A. (Anna)
Abstract: GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the 'iCOGS' genotyping array and impute genotypes for a further 1,284 using 1000 Genomes Project data. All but two, strongly correlated SNPs (rs4442975 G/T and rs6721996 G/A) are excluded as candidate causal variants at odds against >100:1. The best functional candidate, rs4442975, is associated with oestrogen receptor positive (ER+) disease with an odds ratio (OR) in Europeans of 0.85 (95% confidence interval=0.84-0.87; P=1.7 × 10-43) per t-allele. This SNP flanks a transcriptional enhancer that physically interacts with the promoter of IGFBP5 (encoding insulin-like growth factor-binding protein 5) and displays allele-specific gene expression, FOXA1 binding and chromatin looping. Evidence suggests that the g-allele confers increased breast cancer susceptibility through relative downregulation of IGFBP5, a gene with known roles in breast cell biology.
Published: 2014
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22. MicroRNA related polymorphisms and breast cancer risk

Author: Khan, S. (Sofia), Greco, D. (Dario), Michailidou, K. (Kyriaki), Milne, R.L. (Roger), Muranen, T.A. (Taru), Heikkinen, T. (Tuomas), Aaltonen, K. (Kirsimari), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Liu, J. (Jianjun), Hall, P. (Per), Irwanto, A. (Astrid), Humphreys, M.K. (Manjeet), Li, J. (Jingmei), Czene, K. (Kamila), Chang-Claude, J. (Jenny), Hein, R. (Rebecca), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Johnson, N. (Nichola), Gibson, L.J. (Lorna), Aitken, Z. (Zoe), Hopper, J.L. (John), Tsimiklis, H. (Helen), Bui, M. (Minh), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Southey, M.C. (Melissa), Apicella, C. (Carmel), Stone, J. (Jennifer), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Müller-Myhsok, B. (B.), Lichtner, P. (Peter), Turnbull, C. (Clare), Rahman, N. (Nazneen), Chanock, S.J. (Stephen), Hunter, D. (David), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Hogervorst, F.B.L. (Frans), Fasching, P.A. (Peter), Schrauder, A. (André), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Benítez, J. (Javier), Zamora, P.M. (Pilar M.), Perez, J.I.A. (Jose Ignacio Arias), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), March, L.L. (Loic Le), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Couch, F.J. (Fergus), Wang, X. (X.), Vachon, C. (Celine), Olson, J.E. (Janet), Lambrechts, D. (Diether), Moisse, M. (Matthieu), Paridaens, R. (Robert), Christiaens, M.R. (Marie Rose), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Marme, F. (Frederick), Burwinkel, B. (Barbara), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Tchatchou, S. (Srine), Mulligan, A.-M. (Anna-Marie), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Anton-Culver, H. (Hoda), Darabi, H. (Hatef), Eriksson, M. (Mats), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Lissowska, J. (Jolanta), Brinton, L.A. (Louise), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Kristensen, V. (Vessela), Slager, S. (Susan), Tol, A.E. (Ama E.), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Lindblom, A. (Annika), Margolin, S. (Sara), Radice, P. (Paolo), Peterlongo, P. (Paolo), Barile, M. (Monica), Mariani, P. (Paolo), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Collée, J.M. (Margriet), Jager, A. (Agnes), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Giles, G.G. (Graham), McLean, C.A. (Catriona Ann), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Mannermaa, A. (Arto), Hamann, U. (Ute), Chenevix-Trench, G. (Georgia), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Easton, D.F. (Douglas), Nevanlinna, H. (Heli), Khan, S. (Sofia), Greco, D. (Dario), Michailidou, K. (Kyriaki), Milne, R.L. (Roger), Muranen, T.A. (Taru), Heikkinen, T. (Tuomas), Aaltonen, K. (Kirsimari), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Liu, J. (Jianjun), Hall, P. (Per), Irwanto, A. (Astrid), Humphreys, M.K. (Manjeet), Li, J. (Jingmei), Czene, K. (Kamila), Chang-Claude, J. (Jenny), Hein, R. (Rebecca), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Johnson, N. (Nichola), Gibson, L.J. (Lorna), Aitken, Z. (Zoe), Hopper, J.L. (John), Tsimiklis, H. (Helen), Bui, M. (Minh), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Southey, M.C. (Melissa), Apicella, C. (Carmel), Stone, J. (Jennifer), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Müller-Myhsok, B. (B.), Lichtner, P. (Peter), Turnbull, C. (Clare), Rahman, N. (Nazneen), Chanock, S.J. (Stephen), Hunter, D. (David), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Hogervorst, F.B.L. (Frans), Fasching, P.A. (Peter), Schrauder, A. (André), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Benítez, J. (Javier), Zamora, P.M. (Pilar M.), Perez, J.I.A. (Jose Ignacio Arias), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), March, L.L. (Loic Le), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Couch, F.J. (Fergus), Wang, X. (X.), Vachon, C. (Celine), Olson, J.E. (Janet), Lambrechts, D. (Diether), Moisse, M. (Matthieu), Paridaens, R. (Robert), Christiaens, M.R. (Marie Rose), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Marme, F. (Frederick), Burwinkel, B. (Barbara), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Tchatchou, S. (Srine), Mulligan, A.-M. (Anna-Marie), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Anton-Culver, H. (Hoda), Darabi, H. (Hatef), Eriksson, M. (Mats), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Lissowska, J. (Jolanta), Brinton, L.A. (Louise), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Kristensen, V. (Vessela), Slager, S. (Susan), Tol, A.E. (Ama E.), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Lindblom, A. (Annika), Margolin, S. (Sara), Radice, P. (Paolo), Peterlongo, P. (Paolo), Barile, M. (Monica), Mariani, P. (Paolo), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Collée, J.M. (Margriet), Jager, A. (Agnes), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Giles, G.G. (Graham), McLean, C.A. (Catriona Ann), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Mannermaa, A. (Arto), Hamann, U. (Ute), Chenevix-Trench, G. (Georgia), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Easton, D.F. (Douglas), and Nevanlinna, H. (Heli)
Abstract: Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining n
Published: 2014
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23. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Author: Perry, J.R.B. (John), Day, F.R. (Felix), Elks, C.E. (Cathy), Sulem, P. (Patrick), Thompson, D. (Deborah), Ferreira, T. (Teresa), He, C. (Chunyan), Chasman, D.I. (Daniel), Esko, T. (Tõnu), Thorleifsson, G. (Gudmar), Albrecht, E. (Eva), Ang, W.Q. (Wei), Corre, T. (Tanguy), Cousminer, D.L. (Diana), Feenstra, B. (Bjarke), Franceschini, N. (Nora), Ganna, A. (Andrea), Johnson, A.D. (Andrew), Kjellqvist, S. (Sanela), Lunetta, K.L. (Kathryn), Mcmahon, G. (George), Nolte, I.M. (Ilja), Paternoster, L. (Lavinia), Porcu, E. (Eleonora), Smith, A.V. (Davey), Stolk, L. (Lisette), Teumer, A. (Alexander), Tsernikova, N. (Natalia), Tikkanen, E. (Emmi), Ulivi, S. (Shelia), Wagner, E.K. (Erin K.), Amin, N. (Najaf), Bierut, L.J. (Laura), Byrne, E.M. (Enda), Hottenga, J.J. (Jouke Jan), Koller, D.L. (Daniel), Mangino, M. (Massimo), Pers, T.H. (Tune), Yerges-Armstrong, L.M. (Laura), Zhao, J.H. (Jing Hua), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Atsma, F. (Femke), Bandinelli, S. (Stefania), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Blomqvist, C. (Carl), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet), Bonnani, B. (Bernardo), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Buring, J.E. (Julie), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen), Chen, J. (Jinhui), Chenevix-Trench, G. (Georgia), Collée, J.M. (Margriet), Couch, F.J. (Fergus), Couper, D.J. (David), Coviello, A.D. (Andrea), Cox, A. (Angela), Czene, K. (Kamila), Adamo, P. (Pio) d', Vivo, I. (Immaculata) de, Demerath, E.W. (Ellen), Dennis, J. (Joe), Devilee, P. (Peter), Dieffenbach, A.K. (Aida Karina), Dunning, A.M. (Alison), Eiriksdottir, G. (Gudny), Hagen, K. (Knut), Fasching, P.A. (Peter), Ferrucci, L. (Luigi), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Foroud, T. (Tatiana), Franke, L. (Lude), Garcia, M. (Melissa), García-Closas, M. (Montserrat), Geller, F. (Frank), Geus, E.J.C. (Eco) de, Giles, G.G. (Graham), Gudbjartsson, D.F. (Daniel), Gudnason, V. (Vilmundur), Guénel, P. (Pascal), Guo, S. (Suiqun), Hall, P. (Per), Hamann, U. (Ute), Haring, R. (Robin), Hartman, C.A. (Catharina), Heath, A.C. (Andrew), Hofman, A. (Albert), Hooning, M.J. (Maartje), Hopper, J.L. (John), Hu, F.B. (Frank), Hunter, D. (David), Karasik, D. (David), Kiel, D.P. (Douglas P.), Knight, J.A. (Julia), Kosma, V-M. (Veli-Matti), Kutalik, Z. (Zoltán), Lai, S. (Sandra), Lambrechts, D. (Diether), Lindblom, A. (Annika), Mägi, R. (Reedik), Magnusson, P.K. (Patrik), Mannermaa, A. (Arto), Martin, N.G. (Nicholas), Masson, G. (Gisli), McArdle, P.F. (Patrick), McArdle, W.L. (Wendy), Melbye, M. (Mads), Michailidou, K. (Kyriaki), Mihailov, E. (Evelin), Milani, L. (Lili), Milne, R.L. (Roger L), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nohr, C. (Christian), Oldehinkel, A.J. (Albertine), Oostra, B.A. (Ben), Palotie, A. (Aarno), Peacock, M. (Munro), Pedersen, N.L. (Nancy L.), Peterlongo, P. (Paolo), Peto, J. (Julian), Pharoah, P.D.P. (Paul), Postma, D.S. (Dirkje), Pouta, A. (Anneli), Pykäs, K. (Katri), Radice, P. (Paolo), Ring, S.M. (Susan), Rivadeneira Ramirez, F. (Fernando), Robino, A. (Antonietta), Rose, L.M. (Lynda), Rudolph, A. (Anja), Salomaa, V. (Veikko), Sanna, S. (Serena), Schlessinger, D. (David), Schmidt, M.K. (Marjanka), Southey, M.C. (Mellissa C.), Sovio, U. (Ulla), Stampfer, M.J. (Meir J.), Stöckl, D. (Doris), Storniolo, A.M. (Anna M.), Timpson, N.J. (Nicholas), Tyrer, J.P. (Jonathan), Visser, J.A. (Jenny), Vollenweider, P. (Peter), Völzke, H. (Henry), Waeber, G. (Gérard), Waldenberger, M. (Melanie), Wallaschofski, H. (Henri), Wang, Q. (Qing), Willemsen, G.A.H.M. (Gonneke), Winqvist, R. (Robert), Wolffenbuttel, B.H.R. (Bruce H. R.), Wright, M.J. (Margaret), Boomsma, D.I. (Dorret), Econs, M.J. (Michael), Khaw, K.T., Loos, R.J.F. (Ruth), McCarthy, M.I. (Mark), Montgomery, G.W. (Grant), Rice, J.P. (John), Streeten, E.A. (Elizabeth), Thorsteinsdottir, U. (Unnur), Duijn, C.M. (Cornelia) van, Alizadeh, B.Z. (Behrooz), Bergmann, S.M. (Sven), Boerwinkle, E.A. (Eric), Boyd, H.A. (Heather), Crisponi, L. (Laura), Gasparini, P. (Paolo), Gieger, C. (Christian), Harris, T.B. (Tamara), Ingelsson, E. (Erik), Jarvelin, M.-R. (Marjo-Riitta), Kraft, P. (Peter), Lawlor, D.A. (Debbie), Metspalu, A. (Andres), Pennell, C.E. (Craig), Ridker, P.M. (Paul), Snieder, H. (Harold), Sørensen, T.I.A., Spector, T.D. (Timothy), Strachan, D.P. (David P.), Uitterlinden, A.G. (André), Wareham, N.J. (Nick), Widen, E. (Elisabeth), Zygmunt, M. (Marek), Murray, A. (Anna), Easton, D.F. (Douglas), Zwart, J-A. (John-Anker), Murabito, J. (Joanne), Ong, K.K. (Ken K.), Perry, J.R.B. (John), Day, F.R. (Felix), Elks, C.E. (Cathy), Sulem, P. (Patrick), Thompson, D. (Deborah), Ferreira, T. (Teresa), He, C. (Chunyan), Chasman, D.I. (Daniel), Esko, T. (Tõnu), Thorleifsson, G. (Gudmar), Albrecht, E. (Eva), Ang, W.Q. (Wei), Corre, T. (Tanguy), Cousminer, D.L. (Diana), Feenstra, B. (Bjarke), Franceschini, N. (Nora), Ganna, A. (Andrea), Johnson, A.D. (Andrew), Kjellqvist, S. (Sanela), Lunetta, K.L. (Kathryn), Mcmahon, G. (George), Nolte, I.M. (Ilja), Paternoster, L. (Lavinia), Porcu, E. (Eleonora), Smith, A.V. (Davey), Stolk, L. (Lisette), Teumer, A. (Alexander), Tsernikova, N. (Natalia), Tikkanen, E. (Emmi), Ulivi, S. (Shelia), Wagner, E.K. (Erin K.), Amin, N. (Najaf), Bierut, L.J. (Laura), Byrne, E.M. (Enda), Hottenga, J.J. (Jouke Jan), Koller, D.L. (Daniel), Mangino, M. (Massimo), Pers, T.H. (Tune), Yerges-Armstrong, L.M. (Laura), Zhao, J.H. (Jing Hua), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Atsma, F. (Femke), Bandinelli, S. (Stefania), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Blomqvist, C. (Carl), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet), Bonnani, B. (Bernardo), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Buring, J.E. (Julie), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen), Chen, J. (Jinhui), Chenevix-Trench, G. (Georgia), Collée, J.M. (Margriet), Couch, F.J. (Fergus), Couper, D.J. (David), Coviello, A.D. (Andrea), Cox, A. (Angela), Czene, K. (Kamila), Adamo, P. (Pio) d', Vivo, I. (Immaculata) de, Demerath, E.W. (Ellen), Dennis, J. (Joe), Devilee, P. (Peter), Dieffenbach, A.K. (Aida Karina), Dunning, A.M. (Alison), Eiriksdottir, G. (Gudny), Hagen, K. (Knut), Fasching, P.A. (Peter), Ferrucci, L. (Luigi), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Foroud, T. (Tatiana), Franke, L. (Lude), Garcia, M. (Melissa), García-Closas, M. (Montserrat), Geller, F. (Frank), Geus, E.J.C. (Eco) de, Giles, G.G. (Graham), Gudbjartsson, D.F. (Daniel), Gudnason, V. (Vilmundur), Guénel, P. (Pascal), Guo, S. (Suiqun), Hall, P. (Per), Hamann, U. (Ute), Haring, R. (Robin), Hartman, C.A. (Catharina), Heath, A.C. (Andrew), Hofman, A. (Albert), Hooning, M.J. (Maartje), Hopper, J.L. (John), Hu, F.B. (Frank), Hunter, D. (David), Karasik, D. (David), Kiel, D.P. (Douglas P.), Knight, J.A. (Julia), Kosma, V-M. (Veli-Matti), Kutalik, Z. (Zoltán), Lai, S. (Sandra), Lambrechts, D. (Diether), Lindblom, A. (Annika), Mägi, R. (Reedik), Magnusson, P.K. (Patrik), Mannermaa, A. (Arto), Martin, N.G. (Nicholas), Masson, G. (Gisli), McArdle, P.F. (Patrick), McArdle, W.L. (Wendy), Melbye, M. (Mads), Michailidou, K. (Kyriaki), Mihailov, E. (Evelin), Milani, L. (Lili), Milne, R.L. (Roger L), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nohr, C. (Christian), Oldehinkel, A.J. (Albertine), Oostra, B.A. (Ben), Palotie, A. (Aarno), Peacock, M. (Munro), Pedersen, N.L. (Nancy L.), Peterlongo, P. (Paolo), Peto, J. (Julian), Pharoah, P.D.P. (Paul), Postma, D.S. (Dirkje), Pouta, A. (Anneli), Pykäs, K. (Katri), Radice, P. (Paolo), Ring, S.M. (Susan), Rivadeneira Ramirez, F. (Fernando), Robino, A. (Antonietta), Rose, L.M. (Lynda), Rudolph, A. (Anja), Salomaa, V. (Veikko), Sanna, S. (Serena), Schlessinger, D. (David), Schmidt, M.K. (Marjanka), Southey, M.C. (Mellissa C.), Sovio, U. (Ulla), Stampfer, M.J. (Meir J.), Stöckl, D. (Doris), Storniolo, A.M. (Anna M.), Timpson, N.J. (Nicholas), Tyrer, J.P. (Jonathan), Visser, J.A. (Jenny), Vollenweider, P. (Peter), Völzke, H. (Henry), Waeber, G. (Gérard), Waldenberger, M. (Melanie), Wallaschofski, H. (Henri), Wang, Q. (Qing), Willemsen, G.A.H.M. (Gonneke), Winqvist, R. (Robert), Wolffenbuttel, B.H.R. (Bruce H. R.), Wright, M.J. (Margaret), Boomsma, D.I. (Dorret), Econs, M.J. (Michael), Khaw, K.T., Loos, R.J.F. (Ruth), McCarthy, M.I. (Mark), Montgomery, G.W. (Grant), Rice, J.P. (John), Streeten, E.A. (Elizabeth), Thorsteinsdottir, U. (Unnur), Duijn, C.M. (Cornelia) van, Alizadeh, B.Z. (Behrooz), Bergmann, S.M. (Sven), Boerwinkle, E.A. (Eric), Boyd, H.A. (Heather), Crisponi, L. (Laura), Gasparini, P. (Paolo), Gieger, C. (Christian), Harris, T.B. (Tamara), Ingelsson, E. (Erik), Jarvelin, M.-R. (Marjo-Riitta), Kraft, P. (Peter), Lawlor, D.A. (Debbie), Metspalu, A. (Andres), Pennell, C.E. (Craig), Ridker, P.M. (Paul), Snieder, H. (Harold), Sørensen, T.I.A., Spector, T.D. (Timothy), Strachan, D.P. (David P.), Uitterlinden, A.G. (André), Wareham, N.J. (Nick), Widen, E. (Elisabeth), Zygmunt, M. (Marek), Murray, A. (Anna), Easton, D.F. (Douglas), Zwart, J-A. (John-Anker), Murabito, J. (Joanne), and Ong, K.K. (Ken K.)
Abstract: Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 × 10-8) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarc
Published: 2014
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24. Refined histopathological predictors of BRCA1 and BRCA2 mutation status: A large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

Author: Spurdle, A.B. (Amanda), Couch, F.J. (Fergus), Parsons, M. (Marilyn), McGuffog, L. (Lesley), Barrowdale, D. (Daniel), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Healey, S. (Sue), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Rhiem, K. (Kerstin), Hahnen, E. (Eric), Engel, C. (Christoph), Meindl, A. (Alfons), Ditsch, N. (Nina), Arnold, N. (Norbert), Plendl, H. (Hansjoerg), Niederacher, D. (Dieter), Sutter, C. (Christian), Wang-Gohrke, S. (Shan), Steinemann, D. (Doris), Preisler-Adams, S. (Sabine), Kast, K. (Karin), Varon-Mateeva, R. (Raymonda), Ellis, S.D. (Steve), Frost, D. (Debra), Platte, R. (Radka), Perkins, J. (Jo), Evans, D.G. (Gareth), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, L., Davidson, R. (Rosemarie), Cole, T.J. (Trevor), Scuvera, G. (Giulietta), Manoukian, S. (Siranoush), Bonnani, B. (Bernardo), Mariette, F. (F.), Fortuzzi, S. (S.), Viel, A. (Alessandra), Pasini, B. (Barbara), Papi, L. (Laura), Varesco, L. (Liliana), Balleine, R. (Rosemary), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Offitt, K. (Kenneth), Jakubowska, A. (Anna), Lindor, N.M. (Noralane), Thomassen, M. (Mads), Jensen, U.B., Rantala, J. (Johanna), Borg, Å. (Åke), Andrulis, I.L. (Irene), Miron, A. (Alexander), Hansen, T.V.O. (Thomas), Caldes, T. (Trinidad), Neuhausen, S.L. (Susan), Toland, A.E. (Amanda), Nevanlinna, H. (Heli), Montagna, M. (Marco), Garber, J. (Judy), Godwin, A.K. (Andrew), Osorio, A. (Ana), Factor, R.E. (Rachel E.), Terry, M.B. (Mary B.), Rebbeck, R. (Timothy), Karlan, B.Y. (Beth), Southey, M.C. (Melissa), Rashid, M.U. (Muhammad), Tung, N. (Nadine), Pharoah, P.D.P. (Paul), Blows, F. (Fiona), Dunning, A.M. (Alison), Provenzano, E. (Elena), Hall, P. (Per), Czene, K. (Kamila), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Cornelissen, S. (Sten), Verhoef, S., Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Slamon, D.J. (Dennis), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Seibold, P. (Petra), Aittomäki, K. (Kristiina), Muranen, T.A. (Taru), Heikkilä, P. (Päivi), Blomqvist, C. (Carl), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Brinton, L.A. (Louise), Lissowska, J. (Jolanta), Olson, J.E. (Janet), Pankratz, V.S. (Shane), John, E.M. (Esther), Whittemore, A.S. (Alice), West, D. van, Hamann, U. (Ute), Torres, D. (Diana), Ulmer, H.U. (Hans), Rud̈iger, T. (Thomas), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Eccles, D. (Diana), Tapper, W. (William), Durcan, L. (Lorraine), Jones, L. (Louise), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Dwek, M. (Miriam), Swann, R. (Ruth), Bane, A.L. (Anita L.), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Giles, G.G. (Graham), Milne, R.L. (Roger), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Carpenter, J. (Jane), Clarke, C. (Christine), Scott, R.J. (Rodney), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y-D. (Yon-Dschun), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Gronwald, J. (Jacek), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Park-Simon, T.-W., Hillemanns, P. (Peter), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Burwinkel, B. (Barbara), Marme, F. (Federick), Surovy, H. (Harald), Yang, R. (Rongxi), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Hooning, M.J. (Maartje), Collée, J.M. (Margriet), Martens, J.W.M. (John), Tilanus-Linthorst, M.M.A. (Madeleine), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Lindblom, A. (Annika), Margolin, S. (Sara), Joseph, V. (Vijai), Robson, M. (Mark), Rau-Murthy, R. (Rohini), González-Neira, A. (Anna), Arias Pérez, J.I. (José Ignacio), Zamora, P. (Pilar), Benítez, J. (Javier), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Peterlongo, P. (Paolo), Zaffaroni, D. (D.), Barile, M. (Monica), Capra, F. (Fabio), Radice, P. (Paolo), Teo, S.-H. (Soo-Hwang), Easton, D.F. (Douglas), Antoniou, A.C. (Antonis), Chenevix-Trench, G. (Georgia), Goldgar, D. (David), Spurdle, A.B. (Amanda), Couch, F.J. (Fergus), Parsons, M. (Marilyn), McGuffog, L. (Lesley), Barrowdale, D. (Daniel), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Healey, S. (Sue), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Rhiem, K. (Kerstin), Hahnen, E. (Eric), Engel, C. (Christoph), Meindl, A. (Alfons), Ditsch, N. (Nina), Arnold, N. (Norbert), Plendl, H. (Hansjoerg), Niederacher, D. (Dieter), Sutter, C. (Christian), Wang-Gohrke, S. (Shan), Steinemann, D. (Doris), Preisler-Adams, S. (Sabine), Kast, K. (Karin), Varon-Mateeva, R. (Raymonda), Ellis, S.D. (Steve), Frost, D. (Debra), Platte, R. (Radka), Perkins, J. (Jo), Evans, D.G. (Gareth), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, L., Davidson, R. (Rosemarie), Cole, T.J. (Trevor), Scuvera, G. (Giulietta), Manoukian, S. (Siranoush), Bonnani, B. (Bernardo), Mariette, F. (F.), Fortuzzi, S. (S.), Viel, A. (Alessandra), Pasini, B. (Barbara), Papi, L. (Laura), Varesco, L. (Liliana), Balleine, R. (Rosemary), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Offitt, K. (Kenneth), Jakubowska, A. (Anna), Lindor, N.M. (Noralane), Thomassen, M. (Mads), Jensen, U.B., Rantala, J. (Johanna), Borg, Å. (Åke), Andrulis, I.L. (Irene), Miron, A. (Alexander), Hansen, T.V.O. (Thomas), Caldes, T. (Trinidad), Neuhausen, S.L. (Susan), Toland, A.E. (Amanda), Nevanlinna, H. (Heli), Montagna, M. (Marco), Garber, J. (Judy), Godwin, A.K. (Andrew), Osorio, A. (Ana), Factor, R.E. (Rachel E.), Terry, M.B. (Mary B.), Rebbeck, R. (Timothy), Karlan, B.Y. (Beth), Southey, M.C. (Melissa), Rashid, M.U. (Muhammad), Tung, N. (Nadine), Pharoah, P.D.P. (Paul), Blows, F. (Fiona), Dunning, A.M. (Alison), Provenzano, E. (Elena), Hall, P. (Per), Czene, K. (Kamila), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Cornelissen, S. (Sten), Verhoef, S., Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Slamon, D.J. (Dennis), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Seibold, P. (Petra), Aittomäki, K. (Kristiina), Muranen, T.A. (Taru), Heikkilä, P. (Päivi), Blomqvist, C. (Carl), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Brinton, L.A. (Louise), Lissowska, J. (Jolanta), Olson, J.E. (Janet), Pankratz, V.S. (Shane), John, E.M. (Esther), Whittemore, A.S. (Alice), West, D. van, Hamann, U. (Ute), Torres, D. (Diana), Ulmer, H.U. (Hans), Rud̈iger, T. (Thomas), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Eccles, D. (Diana), Tapper, W. (William), Durcan, L. (Lorraine), Jones, L. (Louise), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Dwek, M. (Miriam), Swann, R. (Ruth), Bane, A.L. (Anita L.), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Giles, G.G. (Graham), Milne, R.L. (Roger), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Carpenter, J. (Jane), Clarke, C. (Christine), Scott, R.J. (Rodney), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y-D. (Yon-Dschun), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Gronwald, J. (Jacek), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Park-Simon, T.-W., Hillemanns, P. (Peter), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Burwinkel, B. (Barbara), Marme, F. (Federick), Surovy, H. (Harald), Yang, R. (Rongxi), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Hooning, M.J. (Maartje), Collée, J.M. (Margriet), Martens, J.W.M. (John), Tilanus-Linthorst, M.M.A. (Madeleine), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Lindblom, A. (Annika), Margolin, S. (Sara), Joseph, V. (Vijai), Robson, M. (Mark), Rau-Murthy, R. (Rohini), González-Neira, A. (Anna), Arias Pérez, J.I. (José Ignacio), Zamora, P. (Pilar), Benítez, J. (Javier), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Peterlongo, P. (Paolo), Zaffaroni, D. (D.), Barile, M. (Monica), Capra, F. (Fabio), Radice, P. (Paolo), Teo, S.-H. (Soo-Hwang), Easton, D.F. (Douglas), Antoniou, A.C. (Antonis), Chenevix-Trench, G. (Georgia), and Goldgar, D. (David)
Abstract: Introduction: The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have utility for mutation prediction, including statistical modeling to assess pathogenicity of BRCA1 or BRCA2 variants of uncertain clinical significance. We analyzed large pathology datasets accrued by the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and the Breast Cancer Association Consortium (BCAC) to reassess histopathological predictors of BRCA1 and BRCA2 mutation status, and provide robust likelihood ratio (LR) estimates for statistical modeling. Methods: Selection criteria for study/center inclusion were estrogen receptor (ER) status or grade data available for invasive breast cancer diagnosed younger than 70 years. The dataset included 4,477 BRCA1 mutation carriers, 2,565 BRCA2 mutation carriers, and 47,565 BCAC breast cancer cases. Country-stratified estimates of the l
Published: 2014
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25. The counselees' self-reported request for psychological help in genetic counseling for hereditary breast/ovarian cancer: Not only psychopathology matters

Author: Vos, J. (Joël), Asperen, C.J. (Christi) van, Oosterwijk, J.C. (Jan), Menko, F. (Fred), Collée, J.M. (Margriet), Garcia, E.B.G., Tibben, A. (Arend), Vos, J. (Joël), Asperen, C.J. (Christi) van, Oosterwijk, J.C. (Jan), Menko, F. (Fred), Collée, J.M. (Margriet), Garcia, E.B.G., and Tibben, A. (Arend)
Abstract: Background Several studies have shown that counselees do not experience psychopathological levels of distress after DNA test result disclosure. However, it has not systematically been studied whether the absence of psychopathology also means that counselees do not want to receive help. Their self-reported request for help may be related not only with psychopathology/distress but also with other psychological needs (e.g., surgery decisions), genetics-specific needs (e.g., feeling vulnerable/stigmatized), and existential concerns (e.g., meaning in life). Methods Questionnaires were filled in by Dutch cancer patients, before and after disclosure of BRCA1/2 test results for hereditary breast/ovarian cancer: pathogenic mutation results (n = 30), uninformative results (n = 202), or unclassified variants (n = 16). Newly developed questions measured request for help, psychopathology was estimated with factor analyses on distress/psychopathology instruments, and several validated questionnaires measured other needs/concerns. Results One-third of all counselees who reported a request for psychological help had actually received help. The level of psychopathology correlated between 0.34 and 0.44 with this self-reported need-for-help. Other needs, genetics-specific distress, and existential concerns correlated strongly/moderately with the counselees' self-reported need-for-help. Examples of other needs were intention to undergo surgery, inaccuracy of their interpretation, the impact of cancer, and family communication difficulties. Genetics-specific distress was for instance feeling vulnerable to develop cancer, stigma, and lack of mastery. Existential concerns were, among others, lack of purpose in life, low self-acceptance, and an unfulfilled wish for certainty. Conclusions The request for help is related to multiple factors. Referral to psychosocial professionals may be improved by not only discussing psychopathology during genetic-counseling sessions but also by other needs
Published: 2013
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26. Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

Author: Couch, F.J. (Fergus), McGuffog, L. (Lesley), Lee, A. (Andrew), Olswold, C. (Curtis), Kuchenbaecker, K.B. (Karoline), Soucy, P. (Penny), Fredericksen, Z. (Zachary), Barrowdale, D. (Daniel), Dennis, J. (Joe), Gaudet, M.M. (Mia), Dicks, E. (Ed), Kosel, M. (Matthew), Healey, S. (Sue), Sinilnikova, O. (Olga), Bacot, F. (Francois), Vincent, D. (Daniel), Hogervorst, F.B.L. (Frans), Peock, S. (Susan), Stoppa-Lyonnet, D. (Dominique), Jakubowska, A. (Anna), Radice, P. (Paolo), Schmutzler, R.K. (Rita), Domchek, S.M. (Susan), Piedmonte, M. (Marion), Singer, C.F. (Christian), Friedman, E. (Eitan), Thomassen, M. (Mads), Hansen, T.V.O. (Thomas), Neuhausen, S.L. (Susan), Szabo, C. (Csilla), Blanco, I. (Ignacio), Greene, M.H. (Mark), Karlan, B.Y. (Beth), Garber, J., Phelan, C. (Catherine), Weitzel, J.N. (Jeffrey), Montagna, M. (Marco), Olah, E., Andrulis, I.L. (Irene), Godwin, A.K. (Andrew), Yannoukakos, D. (Drakoulis), Goldgar, D. (David), Caldes, T. (Trinidad), Nevanlinna, H. (Heli), Osorio, A. (Ana), Terry, M.-B. (Mary-Beth), Daly, M.B. (Mary), Rensburg, E.J. (Elizabeth) van, Hamann, U. (Ute), Ramus, S.J. (Susan), Ewart-Toland, A. (Amanda), Caligo, M.A. (Maria), Olopade, O.I. (Olofunmilayo), Tung, N. (Nadine), Claes, K. (Kathleen), Beattie, M.S. (Mary), Southey, M.C. (Melissa), Imyanitov, E.N. (Evgeny), Tischkowitz, M. (Marc), Janavicius, R. (Ramunas), John, E.M. (Esther), Kwong, A. (Ava), Diez, O. (Orland), Balmana, J. (Judith), Barkardottir, R.B. (Rosa), Arun, B.K. (Banu), Rennert, G. (Gad), Teo, S.-H. (Soo-Hwang), Ganz, P.A. (Patricia), Campbell, I. (Ian), Hout, A.H. (Annemarie) van der, Deurzen, C.H.M. (Carolien) van, Seynaeve, C.M. (Caroline), Gómez García, E.B. (Encarna), Leeuwen, F.E. (Flora) van, Meijers-Heijboer, H. (Hanne), Gille, J.J. (Johan), Ausems, M.G.E.M. (Margreet), Blok, M.J. (Marinus), Ligtenberg, M.J. (Marjolijn), Rookus, M.A. (Matti), Devilee, P. (Peter), Verhoef, S., Os, T.A.M. (Theo) van, Wijnen, J.T. (Juul), Frost, D. (Debra), Ellis, S. (Steve), Fineberg, E. (Elena), Platte, R. (Radka), Evans, D.G. (Gareth), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, J.W. (Julian), Eccles, D. (Diana), Cook, J. (Jackie), Brewer, C. (C.), Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Morrison, P.J. (Patrick), Side, L. (Lucy), Donaldson, A. (Alan), Houghton, C. (Catherine), Rogers, M.T. (Mark), Dorkins, H. (Huw), Eason, J. (Jacqueline), Gregory, H. (Helen), McCann, E. (Emma), Murray, A. (Alexandra), Calender, A. (Alain), Hardouin, A. (Agnès), Berthet, P. (Pascaline), Delnatte, C.D. (Capucine), Nogues, C. (Catherine), Lasset, C. (Christine), Houdayer, C. (Claude), Leroux, D. (Dominique), Rouleau, E. (Etienne), Prieur, F. (Fabienne), Damiola, F. (Francesca), Sobol, H. (Hagay), Coupier, I. (Isabelle), Vénat-Bouvet, L. (Laurence), Castera, L. (Laurent), Gauthier-Villars, M. (Marion), Léone, M. (Mélanie), Pujol, P. (Pascal), Mazoyer, S. (Sylvie), Bignon, Y.-J. (Yves-Jean), Złowocka-Perłowska, E. (Elzbieta), Gronwald, J. (Jacek), Lubinski, J. (Jan), Durda, K. (Katarzyna), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Spurdle, A.B. (Amanda), Viel, A. (Alessandra), Peissel, B. (Bernard), Bonnani, B. (Bernardo), Melloni, G. (Giulia), Ottini, L. (Laura), Papi, L. (Laura), Varesco, L. (Liliana), Tibiletti, M.G. (Maria Grazia), Peterlongo, P. (Paolo), Volorio, S. (Sara), Manoukian, S. (Siranoush), Pensotti, V. (Valeria), Arnold, N. (Norbert), Engel, C. (Christoph), Deissler, H. (Helmut), Gadzicki, D. (Dorothea), Gehrig, P.A. (Paola A.), Kast, K. (Karin), Rhiem, K. (Kerstin), Meindl, A. (Alfons), Niederacher, D. (Dieter), Ditsch, N. (Nina), Plendl, H. (Hansjoerg), Preisler-Adams, S. (Sabine), Engert, S. (Stefanie), Sutter, C. (Christian), Varon-Mateeva, R. (Raymonda), Wapenschmidt, B. (Barbara), Weber, B.H.F. (Bernhard), Arver, B. (Brita Wasteson), Stenmark-Askmalm, M. (M.), Loman, N. (Niklas), Rosenquist, R. (R.), Einbeigi, Z. (Zakaria), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Blank, S.V. (Stephanie), Cohn, D.E. (David), Rodriguez, G.C. (Gustavo), Small, L. (Laurie), Friedlander, M. (Michael), Bae-Jump, V.L. (Victoria L.), Fink-Retter, A. (Anneliese), Rappaport, C. (Christine), Gschwantler-Kaulich, D. (Daphne), Pfeiler, G. (Georg), Tea, M.-K., Lindor, N.M. (Noralane), Kaufman, B. (Bella), Shimon Paluch, S. (Shani), Laitman, Y. (Yael), Skytte, A.-B. (Anne-Bine), Gerdes, A-M. (Anne-Marie), Pedersen, I.S. (Inge Sokilde), Moeller, S.T. (Sanne Traasdahl), Kruse, T.A. (Torben), Jensen, U.B., Vijai, J. (Joseph), Sarrel, K. (Kara), Robson, M. (Mark), Kauff, N. (Noah), Mulligan, A.M. (Anna Marie), Glendon, G. (Gord), Ozcelik, H. (Hilmi), Ejlertsen, B. (Bent), Nielsen, F.C. (Finn), Jønson, L. (Lars), Andersen, M.K. (Mette), Ding, Y.C. (Yuan), Steele, L. (Linda), Foretova, L. (Lenka), Teulé, A. (A.), Lázaro, C. (Conxi), Brunet, J. (Joan), Pujana, M.A. (Miguel), Mai, P.L. (Phuong), Loud, J.T. (Jennifer), Walsh, C.S. (Christine), Lester, K.J. (Kathryn), Orsulic, S. (Sandra), Narod, S. (Steven), Herzog, J. (Josef), Sand, S.R. (Sharon), Tognazzo, S. (Silvia), Agata, S. (Simona), Vaszko, T. (Tibor), Weaver, J. (JoEllen), Stavropoulou, A. (Alexandra), Buys, S.S. (Saundra), Romero, A. (Alfonso), Hoya, M. (Miguel) de La, Aittomäki, K. (Kristiina), Muranen, T.A. (Taru), Durán, M. (Mercedes), Chung, W.K. (Wendy), Lasa, A. (Adriana), Dorfling, C.M. (Cecelia), Miron, A. (Alexander), Benítez, J. (Javier), Senter, L. (Leigha), Huo, D. (Dezheng), Chan, S. (Salina), Sokolenko, A. (Anna), Chiquette, J. (Jocelyne), Tihomirova, L. (Laima), Friebel, M.O.W. (Mark ), Agnarsson, B.A. (Bjarni), Lu, K.H. (Karen), Lejbkowicz, F. (Flavio), James, P.A. (Paul ), Hall, A.S. (Alistair), Dunning, A.M. (Alison), Tessier, Y. (Yann), Cunningham, J. (Jane), Slager, S. (Susan), Wang, C. (Chen), Hart, S. (Stewart), Stevens, K. (Kristen), Simard, J. (Jacques), Pastinen, T. (Tomi), Pankratz, V.S. (Shane), Offit, K. (Kenneth), Easton, D.F. (Douglas), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Thorne, H. (Heather), Niedermayr, E. (Eveline), Borg, Å. (Åke), Olsson, H., Jernström, H. (H.), Henriksson, K. (Karin), Harbst, K. (Katja), Soller, M. (Maria), Kristoffersson, U. (Ulf), Wang, X. (Xianshu), Öfverholm, A. (Anna), Nordling, M. (Margareta), Karlsson, P. (Per), Wachenfeldt, A. (Anna) von, Liljegren, A. (Annelie), Lindblom, A. (Annika), Bustinza, G.B., Rantala, J. (Johanna), Melin, B. (Beatrice), Ardnor, C.E. (Christina Edwinsdotter), Emanuelsson, M. (Monica), Ehrencrona, H. (Hans), Pigg, M.H. (Maritta ), Liedgren, S. (Sigrun), Rookus, M.A. (M.), Verhoef, S. (S.), Schmidt, M.K. (Marjanka), Lange, J.L. (J.) de, Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Hooning, M.J. (Maartje), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Cronenburg, T.C.T.E.F. van, Kets, C.M. (Marleen), Mensenkamp, A.R. (Arjen), Luijt, R.B. (Rob) van der, Aalfs, C.M. (Cora), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Gomez Garcia, E.B. (Encarna), Oosterwijk, J.C. (Jan), Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Ellis, S.D. (Steve), Miedzybrodzka, Z. (Zosia), Jeffers, L. (Lisa), Cole, T.J. (Trevor), Ong, K.-R. (Kai-Ren), Hoffman, J. (Jonathan), James, M. (Margaret), Paterson, J. (Joan), Taylor, A. (Amy), Murray, A. (Anna), Kennedy, M.J. (John), Barton, D.E. (David), Porteous, M.E. (Mary), Drummond, S. (Sarah), Brewer, C. (Carole), Kivuva, E. (Emma), Searle, A. (Anne), Goodman, S. (Selina), Davidson, R. (Rosemarie), Murday, V. (Victoria), Bradshaw, N. (Nicola), Snadden, L. (Lesley), Longmuir, M. (Mark), Watt, C. (Catherine), Gibson, S. (Sarah), Haque, E. (Eshika), Tobias, E. (Ed), Duncan, A. (Alexis), Jacobs, C. (Chris), Langman, C. (Caroline), Brady, A.F. (Angela), Melville, S.A. (Scott), Randhawa, K. (Kashmir), Barwell, J. (Julian), Serra-Feliu, G. (Gemma), Ellis, I.O. (Ian), Lalloo, F. (Fiona), Taylor, J. (James), Male, A. (Alison), Berlin, C. 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(Brigitte), Caron, O. (Olivier), Uhrhammer, N. (Nancy), Bonadona, V. (Valérie), Handallou, S. (Sandrine), hardouin, A. (Agnès), Bourdon, V. (Violaine), Noguchi, T. (Tetsuro), Remenieras, A. (Audrey), Eisinger, F. (François), Peyrat, J.-P., Fournier, J. (Joëlle), Révillion, F. (Françoise), Vennin, P. (Philippe), Adenis, C. (Claude), Lidereau, R. (Rosette), Demange, L. (Liliane), Muller, D.W. (Danièle), Fricker, J.P. (Jean Pierre), Barouk-Simonet, E. (Emmanuelle), Bonnet, F. (Françoise), Bubien, V. (Virginie), Sevenet, N. (Nicolas), Longy, M. (Michel), Toulas, C. (Christine), Guimbaud, R. (Rosine), Gladieff, L. (Laurence), Feillel, V. (Viviane), Dreyfus, H. (Hélène), Rebischung, C. (Christine), Peysselon, M. (Magalie), Coron, F. (Fanny), Faivre, L. (Laurence), Lebrun, M. (Marine), Kientz, C. (Caroline), Ferrer, S.F., Frenay, M. (Marc), Mortemousque, I. (Isabelle), Coulet, F. (Florence), Colas, C. (Chrystelle), Soubrier, F., Sokolowska, J. (Johanna), Bronner, M. (Myriam), Lynch, H. (Henry), Snyder, C.L. (Carrie), Angelakos, M. (Maggie), Maskiell, J. (Judi), Dite, G.S. (Gillian), Couch, F.J. (Fergus), McGuffog, L. (Lesley), Lee, A. (Andrew), Olswold, C. (Curtis), Kuchenbaecker, K.B. (Karoline), Soucy, P. (Penny), Fredericksen, Z. (Zachary), Barrowdale, D. (Daniel), Dennis, J. (Joe), Gaudet, M.M. (Mia), Dicks, E. (Ed), Kosel, M. (Matthew), Healey, S. (Sue), Sinilnikova, O. (Olga), Bacot, F. (Francois), Vincent, D. (Daniel), Hogervorst, F.B.L. (Frans), Peock, S. (Susan), Stoppa-Lyonnet, D. (Dominique), Jakubowska, A. (Anna), Radice, P. (Paolo), Schmutzler, R.K. (Rita), Domchek, S.M. (Susan), Piedmonte, M. (Marion), Singer, C.F. (Christian), Friedman, E. (Eitan), Thomassen, M. (Mads), Hansen, T.V.O. (Thomas), Neuhausen, S.L. (Susan), Szabo, C. (Csilla), Blanco, I. (Ignacio), Greene, M.H. (Mark), Karlan, B.Y. (Beth), Garber, J., Phelan, C. (Catherine), Weitzel, J.N. (Jeffrey), Montagna, M. (Marco), Olah, E., Andrulis, I.L. (Irene), Godwin, A.K. (Andrew), Yannoukakos, D. (Drakoulis), Goldgar, D. (David), Caldes, T. (Trinidad), Nevanlinna, H. (Heli), Osorio, A. (Ana), Terry, M.-B. (Mary-Beth), Daly, M.B. (Mary), Rensburg, E.J. (Elizabeth) van, Hamann, U. (Ute), Ramus, S.J. (Susan), Ewart-Toland, A. (Amanda), Caligo, M.A. (Maria), Olopade, O.I. (Olofunmilayo), Tung, N. (Nadine), Claes, K. (Kathleen), Beattie, M.S. (Mary), Southey, M.C. (Melissa), Imyanitov, E.N. (Evgeny), Tischkowitz, M. (Marc), Janavicius, R. (Ramunas), John, E.M. (Esther), Kwong, A. (Ava), Diez, O. (Orland), Balmana, J. (Judith), Barkardottir, R.B. (Rosa), Arun, B.K. (Banu), Rennert, G. (Gad), Teo, S.-H. (Soo-Hwang), Ganz, P.A. (Patricia), Campbell, I. (Ian), Hout, A.H. (Annemarie) van der, Deurzen, C.H.M. (Carolien) van, Seynaeve, C.M. (Caroline), Gómez García, E.B. (Encarna), Leeuwen, F.E. (Flora) van, Meijers-Heijboer, H. (Hanne), Gille, J.J. (Johan), Ausems, M.G.E.M. (Margreet), Blok, M.J. (Marinus), Ligtenberg, M.J. (Marjolijn), Rookus, M.A. (Matti), Devilee, P. (Peter), Verhoef, S., Os, T.A.M. (Theo) van, Wijnen, J.T. (Juul), Frost, D. (Debra), Ellis, S. (Steve), Fineberg, E. (Elena), Platte, R. (Radka), Evans, D.G. (Gareth), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, J.W. (Julian), Eccles, D. (Diana), Cook, J. (Jackie), Brewer, C. (C.), Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Morrison, P.J. (Patrick), Side, L. (Lucy), Donaldson, A. (Alan), Houghton, C. (Catherine), Rogers, M.T. (Mark), Dorkins, H. (Huw), Eason, J. (Jacqueline), Gregory, H. (Helen), McCann, E. (Emma), Murray, A. (Alexandra), Calender, A. (Alain), Hardouin, A. (Agnès), Berthet, P. (Pascaline), Delnatte, C.D. (Capucine), Nogues, C. (Catherine), Lasset, C. (Christine), Houdayer, C. (Claude), Leroux, D. (Dominique), Rouleau, E. (Etienne), Prieur, F. (Fabienne), Damiola, F. (Francesca), Sobol, H. (Hagay), Coupier, I. (Isabelle), Vénat-Bouvet, L. (Laurence), Castera, L. (Laurent), Gauthier-Villars, M. (Marion), Léone, M. (Mélanie), Pujol, P. (Pascal), Mazoyer, S. (Sylvie), Bignon, Y.-J. (Yves-Jean), Złowocka-Perłowska, E. (Elzbieta), Gronwald, J. (Jacek), Lubinski, J. (Jan), Durda, K. (Katarzyna), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Spurdle, A.B. (Amanda), Viel, A. (Alessandra), Peissel, B. (Bernard), Bonnani, B. (Bernardo), Melloni, G. (Giulia), Ottini, L. (Laura), Papi, L. (Laura), Varesco, L. (Liliana), Tibiletti, M.G. (Maria Grazia), Peterlongo, P. (Paolo), Volorio, S. (Sara), Manoukian, S. (Siranoush), Pensotti, V. (Valeria), Arnold, N. (Norbert), Engel, C. (Christoph), Deissler, H. (Helmut), Gadzicki, D. (Dorothea), Gehrig, P.A. (Paola A.), Kast, K. (Karin), Rhiem, K. (Kerstin), Meindl, A. (Alfons), Niederacher, D. (Dieter), Ditsch, N. (Nina), Plendl, H. (Hansjoerg), Preisler-Adams, S. (Sabine), Engert, S. (Stefanie), Sutter, C. (Christian), Varon-Mateeva, R. (Raymonda), Wapenschmidt, B. (Barbara), Weber, B.H.F. (Bernhard), Arver, B. (Brita Wasteson), Stenmark-Askmalm, M. (M.), Loman, N. (Niklas), Rosenquist, R. (R.), Einbeigi, Z. (Zakaria), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Blank, S.V. (Stephanie), Cohn, D.E. (David), Rodriguez, G.C. (Gustavo), Small, L. (Laurie), Friedlander, M. (Michael), Bae-Jump, V.L. (Victoria L.), Fink-Retter, A. (Anneliese), Rappaport, C. (Christine), Gschwantler-Kaulich, D. (Daphne), Pfeiler, G. (Georg), Tea, M.-K., Lindor, N.M. (Noralane), Kaufman, B. (Bella), Shimon Paluch, S. (Shani), Laitman, Y. (Yael), Skytte, A.-B. (Anne-Bine), Gerdes, A-M. (Anne-Marie), Pedersen, I.S. (Inge Sokilde), Moeller, S.T. (Sanne Traasdahl), Kruse, T.A. (Torben), Jensen, U.B., Vijai, J. (Joseph), Sarrel, K. (Kara), Robson, M. (Mark), Kauff, N. (Noah), Mulligan, A.M. (Anna Marie), Glendon, G. (Gord), Ozcelik, H. (Hilmi), Ejlertsen, B. (Bent), Nielsen, F.C. (Finn), Jønson, L. (Lars), Andersen, M.K. (Mette), Ding, Y.C. (Yuan), Steele, L. (Linda), Foretova, L. (Lenka), Teulé, A. 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(Marc), Mortemousque, I. (Isabelle), Coulet, F. (Florence), Colas, C. (Chrystelle), Soubrier, F., Sokolowska, J. (Johanna), Bronner, M. (Myriam), Lynch, H. (Henry), Snyder, C.L. (Carrie), Angelakos, M. (Maggie), Maskiell, J. (Judi), and Dite, G.S. (Gillian)
Abstract: BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associati
Published: 2013
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27. Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

Author: Gaudet, M.M. (Mia), Kuchenbaecker, K.B. (Karoline), Vijai, J. (Joseph), Klein, R.J. (Robert), Kircchoff, T. (Tomas), McGuffog, L. (Lesley), Barrowdale, D. (Daniel), Dunning, A.M. (Alison), Lee, A. (Andrew), Dennis, J. (Joe), Healey, S. (Sue), Dicks, E. (Ed), Soucy, P. (Penny), Sinilnikova, O. (Olga), Pankratz, V.S. (Shane), Wang, X. (Xing), Eldridge, S. (Steve), Tessier, Y. (Yann), Vincent, D. (Daniel), Bacot, F. (Francois), Hogervorst, F.B.L. (Frans), Peock, S. (Susan), Stoppa-Lyonnet, D. (Dominique), Coulet, F. (Florence), Colas, C. (Chrystelle), Soubrier, F., Peterlongo, P. (Paolo), Schmutzler, R.K. (Rita), Nathanson, K.L. (Katherine), Piedmonte, M. (Marion), Singer, C.F. (Christian), Thomassen, M. (Mads), Sokolowska, J. (Johanna), Bronner, M. (Myriam), Hansen, T.V.O. (Thomas), Neuhausen, S.L. (Susan), Blanco, I. (Ignacio), Greene, M.H. (Mark), Garber, J., Weitzel, J.N. (Jeffrey), Andrulis, I.L. (Irene), Goldgar, D. (David), D'Andrea, E. (Emma), Caldes, T. (Trinidad), Nevanlinna, H. (Heli), Osorio, A. (Ana), Rensburg, E.J. (Elizabeth) van, Arason, A. (Adalgeir), Rennert, G. (Gad), Ouweland, A.M.W. (Ans) van den, Hout, A.H. (Annemarie) van der, Kets, C.M. (Marleen), Aalfs, C.M. (Cora), Wijnen, J.T. (Juul), Ausems, M.G.E.M. (Margreet), Frost, D. (Debra), Ellis, S. (Steve), Fineberg, E. (Elena), Platte, R. (Radka), Evans, D.G. (Gareth), Jacobs, C. (Chris), Adlard, J.W. (Julian), Tischkowitz, M. (Marc), Porteous, M.E. (Mary), Damiola, F. (Francesca), Golmard, L. (Lisa), Barjhoux, L. (Laure), Longy, M. (Michel), Belotti, M. (Muriel), Ferrer, S.F., Mazoyer, S. (Sylvie), Spurdle, A.B. (Amanda), Manoukian, S. (Siranoush), Barile, M. (Monica), Genuardi, M. (Maurizio), Arnold, N. (Norbert), Meindl, A. (Alfons), Sutter, C. (Christian), Wapenschmidt, B. (Barbara), Domchek, S.M. (Susan), Pfeiler, G. (Georg), Friedman, E. (Eitan), Jensen, U.B., Robson, M. (Mark), Shah, S. (Sonia), Lázaro, C. (Conxi), Mai, P.L. (Phuong), Benítez, J. (Javier), Southey, M.C. (Melissa), Schmidt, M.K. (Marjanka), Fasching, P.A. (Peter), Peto, J. (Julian), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Michailidou, K. (Kyriaki), Sawyer, E.J. (Elinor), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Bojesen, S.E. (Stig), Milne, R.L. (Roger), Brenner, H. (Hermann), Lochmann, M. (Magdalena), Brauch, H. (Hiltrud), Ko, Y-D. (Yon-Dschun), Baisch, C. (Christian), Fischer, H.-P., Bruening, T. (Thomas), Pesch, B. (Beate), Rabstein, S. (Sylvia), Spickenheuer, A. (Anne), Aittomäki, K. (Kristiina), Dörk, T. (Thilo), Margolin, S. (Sara), Mannermaa, A. (Arto), Lambrechts, D. (Diether), Chang-Claude, J. (Jenny), Radice, P. (Paolo), Giles, G.G. (Graham), Haiman, C.A. (Christopher), Winqvist, R. (Robert), Devillee, P. (Peter), García-Closas, M. (Montserrat), Schoof, N. (Nils), Hooning, M.J. (Maartje), Cox, A. (Angela), Pharoah, P.D.P. (Paul), Jakubowska, A. (Anna), Orr, N. (Nick), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Hall, A.S. (Alistair), Couch, F.J. (Fergus), Simard, J. (Jacques), Altshuler, D. (David), Easton, D.F. (Douglas), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Offit, K. (Kenneth), Rookus, M.A. (Matti), Leeuwen, F.E. (Flora) van, Verhoef, S., Lange, J.L. (J.) de, Collée, J.M. (Margriet), Seynaeve, C.M. (Caroline), Deurzen, C.H.M. (Carolien) van, Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Devilee, P. (Peter), Cronenburg, T.C.T.E.F. van, Mensenkamp, A.R. (Arjen), Luijt, R.B. (Rob) van der, Os, T.A.M. (Theo) van, Gille, J.J. (Johan), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Gómez García, E.B. (Encarna), Blok, M.J. (Marinus), Oosterwijk, J.C. (Jan), Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Vasen, H. (Hans), Ellis, S.D. (Steve), Miedzybrodzka, Z. (Zosia), Gregory, H. (Helen), Morrison, P.J. (Patrick), Jeffers, L. (Lisa), Cole, T.J. (Trevor), Ong, K.-R. (Kai-Ren), Hoffman, J. (Jonathan), Donaldson, A. (Alan), James, M. (Margaret), Paterson, J. (Joan), Taylor, A. (Amy), Murray, A. (Alexandra), Rogers, M.T. (Mark), McCann, E. (Emma), Kennedy, M.J. (John), Barton, D.E. (David), Drummond, S. (Sarah), Brewer, C. (C.), Kivuva, E. (Emma), Searle, A. (Anne), Goodman, S. (Selina), Davidson, R. (Rosemarie), Murday, V. (Victoria), Bradshaw, N. (Nicola), Snadden, L. (Lesley), Longmuir, M. (Mark), Watt, C. (Catherine), Gibson, S. (Sarah), Haque, E. (Eshika), Tobias, E. (Ed), Duncan, A. (Alexis), Izatt, L. (Louise), Langman, C. (Caroline), Brady, A.F. (Angela), Dorkins, H. (Huw), Melville, S.A. (Scott), Randhawa, K. (Kashmir), Barwell, J. (Julian), Serra-Feliu, G. (Gemma), Ellis, I.O. (Ian), Houghton, C. (Catherine), Lalloo, F. (Fiona), Taylor, J. (James), Side, L. (Lucy), Male, A. (Alison), Berlin, C. (Cheryl), Eason, J. (Jacqueline), Collier, R. (Rebecca), Douglas, F. (Fiona), Claber, O. (Oonagh), Jobson, I. (Irene), Walker, L.J. (Lisa), McLeod, D. (Diane), Halliday, D. (Dorothy), Durell, S. (Sarah), Stayner, B. (Barbara), Eeles, R. (Rosalind), Shanley, S. (Susan), Rahman, N. (Nazneen), Houlston, R. (Richard), Bancroft, E.K. (Elizabeth), Page, E. (Elizabeth), Ardern-Jones, A. (Audrey), Kohut, K. (Kelly), Wiggins, J. (Jennifer), Castro, E. (Elena), Killick, S.R., Martin, S. (Sue), Rea, D. (Dan), Kulkarni, A. (Anjana), Cook, J. (Jackie), Quarrell, O. (Oliver), Bardsley, C. (Cathryn), Hodgson, S.V. (Shirley), Goff, S. (Sheila), Brice, G. (Glen), Winchester, L. (Lizzie), Eddy, C. (Charlotte), Tripathi, V. (Vishakha), Attard, V. (Virginia), Lehmann, A. (Anna), Eccles, D. (Diana), Lucassen, A. (Anneke), Crawford, G. (Gabe), McBride, D. (Donna), Smalley, S. (Sarah), Verny-Pierre, C. (Carole), Giraud, S. (Sophie), Léone, M. (Mélanie), Gauthier-Villars, M. (Marion), Buecher, B. (Bruno), Houdayer, C. (Claude), Moncoutier, V. (Virginie), Tirapo, C. (Carole), Pauw, A. (Antoine) de, Bressac-de Paillerets, B. (Brigitte), Caron, O. (Olivier), Bignon, Y.-J. (Yves-Jean), Uhrhammer, N. (Nancy), Lasset, C. (Christine), Bonadona, V. (Valérie), Handallou, S. (Sandrine), Hardouin, A. (Agnès), Berthet, P. (Pascaline), Sobol, H. (Hagay), Bourdon, V. (Violaine), Noguchi, T. (Tetsuro), Remenieras, A. (Audrey), Eisinger, F. (François), Coupier, I. (Isabelle), Pujol, P. (Pascal), Peyrat, J.-P., Fournier, J. (Joëlle), Révillion, F. (Françoise), Vennin, P. (Philippe), Adenis, C. (Claude), Rouleau, E. (Etienne), Lidereau, R. (Rosette), Demange, L. (Liliane), Nogues, C. (Catherine), Muller, D.W. (Danièle), Fricker, J.P. (Jean Pierre), Barouk-Simonet, E. (Emmanuelle), Bonnet, F. (Françoise), Bubien, V. (Virginie), Sevenet, N. (Nicolas), Toulas, C. (Christine), Guimbaud, R. (Rosine), Gladieff, L. (Laurence), Feillel, V. (Viviane), Dreyfus, H. (Hélène), Rebischung, C. (Christine), Peysselon, M. (Magalie), Coron, F. (Fanny), Faivre, L. (Laurence), Prieur, F. (Fabienne), Lebrun, M. (Marine), Kientz, C. (Caroline), Frenay, M. (Marc), Vénat-Bouvet, L. (Laurence), Delnatte, C.D. (Capucine), Mortemousque, I. (Isabelle), Lynch, H. (Henry), Snyder, C.L. (Carrie), Gaudet, M.M. (Mia), Kuchenbaecker, K.B. (Karoline), Vijai, J. (Joseph), Klein, R.J. (Robert), Kircchoff, T. (Tomas), McGuffog, L. (Lesley), Barrowdale, D. (Daniel), Dunning, A.M. (Alison), Lee, A. (Andrew), Dennis, J. (Joe), Healey, S. (Sue), Dicks, E. (Ed), Soucy, P. (Penny), Sinilnikova, O. (Olga), Pankratz, V.S. (Shane), Wang, X. (Xing), Eldridge, S. (Steve), Tessier, Y. (Yann), Vincent, D. (Daniel), Bacot, F. (Francois), Hogervorst, F.B.L. (Frans), Peock, S. (Susan), Stoppa-Lyonnet, D. (Dominique), Coulet, F. (Florence), Colas, C. (Chrystelle), Soubrier, F., Peterlongo, P. (Paolo), Schmutzler, R.K. (Rita), Nathanson, K.L. (Katherine), Piedmonte, M. (Marion), Singer, C.F. (Christian), Thomassen, M. (Mads), Sokolowska, J. (Johanna), Bronner, M. (Myriam), Hansen, T.V.O. (Thomas), Neuhausen, S.L. (Susan), Blanco, I. (Ignacio), Greene, M.H. (Mark), Garber, J., Weitzel, J.N. (Jeffrey), Andrulis, I.L. (Irene), Goldgar, D. (David), D'Andrea, E. (Emma), Caldes, T. (Trinidad), Nevanlinna, H. (Heli), Osorio, A. (Ana), Rensburg, E.J. (Elizabeth) van, Arason, A. (Adalgeir), Rennert, G. (Gad), Ouweland, A.M.W. (Ans) van den, Hout, A.H. (Annemarie) van der, Kets, C.M. (Marleen), Aalfs, C.M. (Cora), Wijnen, J.T. (Juul), Ausems, M.G.E.M. (Margreet), Frost, D. (Debra), Ellis, S. (Steve), Fineberg, E. (Elena), Platte, R. (Radka), Evans, D.G. (Gareth), Jacobs, C. (Chris), Adlard, J.W. (Julian), Tischkowitz, M. (Marc), Porteous, M.E. (Mary), Damiola, F. (Francesca), Golmard, L. (Lisa), Barjhoux, L. (Laure), Longy, M. (Michel), Belotti, M. (Muriel), Ferrer, S.F., Mazoyer, S. (Sylvie), Spurdle, A.B. (Amanda), Manoukian, S. (Siranoush), Barile, M. (Monica), Genuardi, M. (Maurizio), Arnold, N. (Norbert), Meindl, A. (Alfons), Sutter, C. (Christian), Wapenschmidt, B. (Barbara), Domchek, S.M. (Susan), Pfeiler, G. (Georg), Friedman, E. (Eitan), Jensen, U.B., Robson, M. (Mark), Shah, S. (Sonia), Lázaro, C. (Conxi), Mai, P.L. (Phuong), Benítez, J. (Javier), Southey, M.C. (Melissa), Schmidt, M.K. (Marjanka), Fasching, P.A. (Peter), Peto, J. (Julian), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Michailidou, K. (Kyriaki), Sawyer, E.J. (Elinor), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Bojesen, S.E. (Stig), Milne, R.L. (Roger), Brenner, H. (Hermann), Lochmann, M. (Magdalena), Brauch, H. (Hiltrud), Ko, Y-D. (Yon-Dschun), Baisch, C. (Christian), Fischer, H.-P., Bruening, T. (Thomas), Pesch, B. (Beate), Rabstein, S. (Sylvia), Spickenheuer, A. (Anne), Aittomäki, K. (Kristiina), Dörk, T. (Thilo), Margolin, S. (Sara), Mannermaa, A. (Arto), Lambrechts, D. (Diether), Chang-Claude, J. (Jenny), Radice, P. (Paolo), Giles, G.G. (Graham), Haiman, C.A. (Christopher), Winqvist, R. (Robert), Devillee, P. (Peter), García-Closas, M. (Montserrat), Schoof, N. (Nils), Hooning, M.J. (Maartje), Cox, A. (Angela), Pharoah, P.D.P. (Paul), Jakubowska, A. (Anna), Orr, N. (Nick), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Hall, A.S. (Alistair), Couch, F.J. (Fergus), Simard, J. (Jacques), Altshuler, D. (David), Easton, D.F. (Douglas), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Offit, K. (Kenneth), Rookus, M.A. (Matti), Leeuwen, F.E. (Flora) van, Verhoef, S., Lange, J.L. (J.) de, Collée, J.M. (Margriet), Seynaeve, C.M. (Caroline), Deurzen, C.H.M. (Carolien) van, Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Devilee, P. (Peter), Cronenburg, T.C.T.E.F. van, Mensenkamp, A.R. (Arjen), Luijt, R.B. (Rob) van der, Os, T.A.M. (Theo) van, Gille, J.J. (Johan), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Gómez García, E.B. (Encarna), Blok, M.J. (Marinus), Oosterwijk, J.C. (Jan), Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Vasen, H. (Hans), Ellis, S.D. (Steve), Miedzybrodzka, Z. (Zosia), Gregory, H. (Helen), Morrison, P.J. (Patrick), Jeffers, L. (Lisa), Cole, T.J. (Trevor), Ong, K.-R. (Kai-Ren), Hoffman, J. (Jonathan), Donaldson, A. (Alan), James, M. (Margaret), Paterson, J. (Joan), Taylor, A. (Amy), Murray, A. (Alexandra), Rogers, M.T. (Mark), McCann, E. (Emma), Kennedy, M.J. (John), Barton, D.E. (David), Drummond, S. (Sarah), Brewer, C. (C.), Kivuva, E. (Emma), Searle, A. (Anne), Goodman, S. (Selina), Davidson, R. (Rosemarie), Murday, V. (Victoria), Bradshaw, N. (Nicola), Snadden, L. (Lesley), Longmuir, M. (Mark), Watt, C. (Catherine), Gibson, S. (Sarah), Haque, E. (Eshika), Tobias, E. (Ed), Duncan, A. (Alexis), Izatt, L. (Louise), Langman, C. (Caroline), Brady, A.F. (Angela), Dorkins, H. (Huw), Melville, S.A. (Scott), Randhawa, K. (Kashmir), Barwell, J. (Julian), Serra-Feliu, G. (Gemma), Ellis, I.O. (Ian), Houghton, C. (Catherine), Lalloo, F. (Fiona), Taylor, J. (James), Side, L. (Lucy), Male, A. (Alison), Berlin, C. (Cheryl), Eason, J. (Jacqueline), Collier, R. (Rebecca), Douglas, F. (Fiona), Claber, O. (Oonagh), Jobson, I. (Irene), Walker, L.J. (Lisa), McLeod, D. (Diane), Halliday, D. (Dorothy), Durell, S. (Sarah), Stayner, B. (Barbara), Eeles, R. (Rosalind), Shanley, S. (Susan), Rahman, N. (Nazneen), Houlston, R. (Richard), Bancroft, E.K. (Elizabeth), Page, E. (Elizabeth), Ardern-Jones, A. (Audrey), Kohut, K. (Kelly), Wiggins, J. (Jennifer), Castro, E. (Elena), Killick, S.R., Martin, S. (Sue), Rea, D. (Dan), Kulkarni, A. (Anjana), Cook, J. (Jackie), Quarrell, O. (Oliver), Bardsley, C. (Cathryn), Hodgson, S.V. (Shirley), Goff, S. (Sheila), Brice, G. (Glen), Winchester, L. (Lizzie), Eddy, C. (Charlotte), Tripathi, V. (Vishakha), Attard, V. (Virginia), Lehmann, A. (Anna), Eccles, D. (Diana), Lucassen, A. (Anneke), Crawford, G. (Gabe), McBride, D. (Donna), Smalley, S. (Sarah), Verny-Pierre, C. (Carole), Giraud, S. (Sophie), Léone, M. (Mélanie), Gauthier-Villars, M. (Marion), Buecher, B. (Bruno), Houdayer, C. (Claude), Moncoutier, V. (Virginie), Tirapo, C. (Carole), Pauw, A. (Antoine) de, Bressac-de Paillerets, B. (Brigitte), Caron, O. (Olivier), Bignon, Y.-J. (Yves-Jean), Uhrhammer, N. (Nancy), Lasset, C. (Christine), Bonadona, V. (Valérie), Handallou, S. (Sandrine), Hardouin, A. (Agnès), Berthet, P. (Pascaline), Sobol, H. (Hagay), Bourdon, V. (Violaine), Noguchi, T. (Tetsuro), Remenieras, A. (Audrey), Eisinger, F. (François), Coupier, I. (Isabelle), Pujol, P. (Pascal), Peyrat, J.-P., Fournier, J. (Joëlle), Révillion, F. (Françoise), Vennin, P. (Philippe), Adenis, C. (Claude), Rouleau, E. (Etienne), Lidereau, R. (Rosette), Demange, L. (Liliane), Nogues, C. (Catherine), Muller, D.W. (Danièle), Fricker, J.P. (Jean Pierre), Barouk-Simonet, E. (Emmanuelle), Bonnet, F. (Françoise), Bubien, V. (Virginie), Sevenet, N. (Nicolas), Toulas, C. (Christine), Guimbaud, R. (Rosine), Gladieff, L. (Laurence), Feillel, V. (Viviane), Dreyfus, H. (Hélène), Rebischung, C. (Christine), Peysselon, M. (Magalie), Coron, F. (Fanny), Faivre, L. (Laurence), Prieur, F. (Fabienne), Lebrun, M. (Marine), Kientz, C. (Caroline), Frenay, M. (Marc), Vénat-Bouvet, L. (Laurence), Delnatte, C.D. (Capucine), Mortemousque, I. (Isabelle), Lynch, H. (Henry), and Snyder, C.L. (Carrie)
Published: 2013
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28. Rare variants in XRCC2 as breast cancer susceptibility alleles

Author: Hilbers, F.S. (Florentine), Wijnen, J.T. (Juul), Hoogerbrugge, N. (Nicoline), Oosterwijk, J.C. (Jan), Collée, J.M. (Margriet), Peterlongo, P. (Paolo), Radice, P. (Paolo), Manoukian, S. (Siranoush), Feroce, I. (Irene), Capra, F. (Fabio), Couch, F.J. (Fergus), Wang, X. (Xing), Guidugli, L. (Lucia), Offit, K. (Kenneth), Shah, S. (Sonia), Campbell, I. (Ian), Thompson, E.R. (Ella), James, P.A. (Paul ), Trainer, A.H. (Alison ), Gracia, J. (Javier), Benítez, J. (Javier), Asperen, C.J. (Christi) van, Devilee, P. (Peter), Hilbers, F.S. (Florentine), Wijnen, J.T. (Juul), Hoogerbrugge, N. (Nicoline), Oosterwijk, J.C. (Jan), Collée, J.M. (Margriet), Peterlongo, P. (Paolo), Radice, P. (Paolo), Manoukian, S. (Siranoush), Feroce, I. (Irene), Capra, F. (Fabio), Couch, F.J. (Fergus), Wang, X. (Xing), Guidugli, L. (Lucia), Offit, K. (Kenneth), Shah, S. (Sonia), Campbell, I. (Ian), Thompson, E.R. (Ella), James, P.A. (Paul ), Trainer, A.H. (Alison ), Gracia, J. (Javier), Benítez, J. (Javier), Asperen, C.J. (Christi) van, and Devilee, P. (Peter)
Abstract: Background: Recently, rare germline variants in XRCC2 were detected in non-BRCA1/2 familial breast cancer cases, and a significant association with breast cancer was reported. However, the breast cancer risk associated with these variants needs further evaluation. Methods: The coding regions and exon-intron boundaries of XRCC2 were scanned for mutations in an international cohort of 3548
Published: 2012
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29. CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer

Author: Weischer, M. (Maren), Nordestgaard, B.G. (Børge), Pharoah, P.D.P. (Paul), Bolla, M.K. (Manjeet), Nevanlinna, H. (Heli), Veer, L.J. (Laura) van 't, García-Closas, M. (Montserrat), Hopper, J.L. (John), Hall, P. (Per), Andrulis, I.L. (Irene), Devilee, P. (Peter), Fasching, P.A. (Peter), Anton-Culver, H. (Hoda), Lambrechts, D. (Diether), Hooning, M.J. (Maartje), Cox, A. (Angela), Giles, G.G. (Graham), Burwinkel, B. (Barbara), Lindblom, A. (Annika), Couch, F.J. (Fergus), Mannermaa, A. (Arto), Alnæs, G.G. (Grethe), John, E.M. (Esther), Dörk, T. (Thilo), Flyger, H. (Henrik), Dunning, A.M. (Alison), Wang, Q. (Qing), Muranen, T.A. (Taru), Hien, R.R. (Richard) van, Figueroa, J.D. (Jonine), Southey, M.C. (Melissa), Czene, K. (Kamila), Knight, J.A. (Julia), Tollenaar, R.A.E.M. (Rob), Beckmann, M.W. (Matthias), Ziogas, A. (Argyrios), Christiaens, M.R. (Marie Rose), Collée, J.M. (Margriet), Reed, M.W.R. (Malcolm), Severi, G. (Gianluca), Marme, F. (Federick), Margolin, S. (Sara), Olson, J.E. (Janet), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Miron, A. (Alexander), Bogdanova, N.V. (Natalia), Shah, M. (Mitul), Blomqvist, C. (Carl), Broeks, A. (Annegien), Sherman, M.E. (Mark), Phillips, K. (Kelly), Li, J. (Jingmei), Liu, J. (Jianjun), Glendon, G. (Gord), Seynaeve, C.M. (Caroline), Ekici, A.B. (Arif), Leunen, K., Kriege, M. (Mieke), Cross, S.S. (Simon), Baglietto, L. (Laura), Sohn, C. (Christof), Wang, X. (Xing), Kataja, V. (Vesa), Børresen-Dale, A.L. (Anne Lise), Meyer, A. (Andreas), Easton, D.F. (Douglas), Schmidt, M.K. (Marjanka), Bojesen, S.E. (Stig), Weischer, M. (Maren), Nordestgaard, B.G. (Børge), Pharoah, P.D.P. (Paul), Bolla, M.K. (Manjeet), Nevanlinna, H. (Heli), Veer, L.J. (Laura) van 't, García-Closas, M. (Montserrat), Hopper, J.L. (John), Hall, P. (Per), Andrulis, I.L. (Irene), Devilee, P. (Peter), Fasching, P.A. (Peter), Anton-Culver, H. (Hoda), Lambrechts, D. (Diether), Hooning, M.J. (Maartje), Cox, A. (Angela), Giles, G.G. (Graham), Burwinkel, B. (Barbara), Lindblom, A. (Annika), Couch, F.J. (Fergus), Mannermaa, A. (Arto), Alnæs, G.G. (Grethe), John, E.M. (Esther), Dörk, T. (Thilo), Flyger, H. (Henrik), Dunning, A.M. (Alison), Wang, Q. (Qing), Muranen, T.A. (Taru), Hien, R.R. (Richard) van, Figueroa, J.D. (Jonine), Southey, M.C. (Melissa), Czene, K. (Kamila), Knight, J.A. (Julia), Tollenaar, R.A.E.M. (Rob), Beckmann, M.W. (Matthias), Ziogas, A. (Argyrios), Christiaens, M.R. (Marie Rose), Collée, J.M. (Margriet), Reed, M.W.R. (Malcolm), Severi, G. (Gianluca), Marme, F. (Federick), Margolin, S. (Sara), Olson, J.E. (Janet), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Miron, A. (Alexander), Bogdanova, N.V. (Natalia), Shah, M. (Mitul), Blomqvist, C. (Carl), Broeks, A. (Annegien), Sherman, M.E. (Mark), Phillips, K. (Kelly), Li, J. (Jingmei), Liu, J. (Jianjun), Glendon, G. (Gord), Seynaeve, C.M. (Caroline), Ekici, A.B. (Arif), Leunen, K., Kriege, M. (Mieke), Cross, S.S. (Simon), Baglietto, L. (Laura), Sohn, C. (Christof), Wang, X. (Xing), Kataja, V. (Vesa), Børresen-Dale, A.L. (Anne Lise), Meyer, A. (Andreas), Easton, D.F. (Douglas), Schmidt, M.K. (Marjanka), and Bojesen, S.E. (Stig)
Abstract: Purpose: We tested the hypotheses that CHEK2*1100delC heterozygosity is associated with increased risk of early death, breast cancer-specific death, and risk of a second breast cancer in women with a first breast cancer. Patients and Methods: From 22 studies participating in the Breast Cancer Association Consortium, 25,571 white women with invasive breast cancer were genotyped for CHEK2*1100delC and observed for up to 20 years (median, 6.6 years). We examined risk of early death and breast cancer-specific death by estrogen receptor status and risk of a second breast cancer after a first breast cancer in prospective studies. Results: CHEK2*1100delC heterozygosity was found in 459 patients (1.8%). In women with estrogen receptor-positive breast cancer, m
Published: 2012
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30. Comparison of 6q25 breast cancer hits from Asian and European genome wide association studies in the Breast Cancer Association consortium (BCAC)

Author: Hein, R. (Rebecca), Maranian, M. (Melanie), Hopper, J.L. (John), Kapuscinski, M.K. (Miroslaw), Southey, M.C. (Melissa), Park, D.J. (Daniel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Bueno-de-Mesquit, H.B. (Bas), Muir, K.R. (Kenneth), Lophatananon, A. (Artitaya), Rattanamongkongul, S. (Suthee), Puttawibul, P. (Puttisak), Fasching, P.A. (Peter), Hein, A. (Alexander), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Fletcher, O. (Olivia), Johnson, N. (Nichola), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Marmee, F. (Frederick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Cordina-Duverger, E. (Emilie), Menegaux, F. (Florence), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Perez, J.I.A. (Jose Ignacio Arias), Zamora, M.P. (Pilar), Benítez, J. (Javier), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Clarke, C.A. (Christina), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Stegmaier, C. (Christa), Rahman, N. (Nazneen), Seal, S. (Sheila), Turnbull, C. (Clare), Renwick, A. (Anthony), Meindl, A. (Alfons), Schott, S. (Sarah), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Wang-Gohrke, S. (Shan), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Zalutsky, I.V. (Iosif), Antonenkova, N.N. (Natalia), Bermisheva, M. (Marina), Prokovieva, D. (Darya), Farahtdinova, A. (Albina), Khusnutdinova, E.K. (Elza), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Lambrechts, D. (Diether), Zhao, H. (Hui), Neven, P. (Patrick), Wildiers, H. (Hans), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xianshu), Fredericksen, Z. (Zachary), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Severi, G. (Gianluca), Offit, K. (Kenneth), Robson, M. (Mark), Gaudet, M.M. (Mia), Vijai, J. (Joseph), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Børresen-Dale, A.L. (Anne Lise), John, E.M. (Esther), Miron, A. (Alexander), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Figueroa, J.D. (Jonine), García-Closas, M. (Montserrat), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Seynaeve, C.M. (Caroline), Collée, J.M. (Margriet), Hall, P. (Per), Humpreys, K. (Keith), Czene, K. (Kamila), Liu, J. (Jianjun), Cox, A. (Angela), Brock, I.W. (Ian), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Ahmed, S. (Shahana), Ghoussaini, M. (Maya), Pharoah, P.D.P. (Paul), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Jakubowska, A. (Anna), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Złowocka, E. (Elzbieta), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Hou, M.-F. (Ming-Feng), Orr, N. (Nick), Schoemaker, M. (Minouk), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Trentham-Dietz, A. (Amy), Newcomb, P. (Polly), Titus, L. (Linda), Egan, K.M. (Kathleen), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Humphreys, M.K. (Manjeet), Morrison, J. (Jonathan), Chang-Claude, J. (Jenny), Easton, D.F. (Douglas), Dunning, A.M. (Alison), Hein, R. (Rebecca), Maranian, M. (Melanie), Hopper, J.L. (John), Kapuscinski, M.K. (Miroslaw), Southey, M.C. (Melissa), Park, D.J. (Daniel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Bueno-de-Mesquit, H.B. (Bas), Muir, K.R. (Kenneth), Lophatananon, A. (Artitaya), Rattanamongkongul, S. (Suthee), Puttawibul, P. (Puttisak), Fasching, P.A. (Peter), Hein, A. (Alexander), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Fletcher, O. (Olivia), Johnson, N. (Nichola), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Marmee, F. (Frederick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Cordina-Duverger, E. (Emilie), Menegaux, F. (Florence), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Perez, J.I.A. (Jose Ignacio Arias), Zamora, M.P. (Pilar), Benítez, J. (Javier), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Clarke, C.A. (Christina), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Stegmaier, C. (Christa), Rahman, N. (Nazneen), Seal, S. (Sheila), Turnbull, C. (Clare), Renwick, A. (Anthony), Meindl, A. (Alfons), Schott, S. (Sarah), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Wang-Gohrke, S. (Shan), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Zalutsky, I.V. (Iosif), Antonenkova, N.N. (Natalia), Bermisheva, M. (Marina), Prokovieva, D. (Darya), Farahtdinova, A. (Albina), Khusnutdinova, E.K. (Elza), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Lambrechts, D. (Diether), Zhao, H. (Hui), Neven, P. (Patrick), Wildiers, H. (Hans), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xianshu), Fredericksen, Z. (Zachary), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Severi, G. (Gianluca), Offit, K. (Kenneth), Robson, M. (Mark), Gaudet, M.M. (Mia), Vijai, J. (Joseph), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Børresen-Dale, A.L. (Anne Lise), John, E.M. (Esther), Miron, A. (Alexander), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Figueroa, J.D. (Jonine), García-Closas, M. (Montserrat), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Seynaeve, C.M. (Caroline), Collée, J.M. (Margriet), Hall, P. (Per), Humpreys, K. (Keith), Czene, K. (Kamila), Liu, J. (Jianjun), Cox, A. (Angela), Brock, I.W. (Ian), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Ahmed, S. (Shahana), Ghoussaini, M. (Maya), Pharoah, P.D.P. (Paul), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Jakubowska, A. (Anna), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Złowocka, E. (Elzbieta), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Hou, M.-F. (Ming-Feng), Orr, N. (Nick), Schoemaker, M. (Minouk), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Trentham-Dietz, A. (Amy), Newcomb, P. (Polly), Titus, L. (Linda), Egan, K.M. (Kathleen), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Humphreys, M.K. (Manjeet), Morrison, J. (Jonathan), Chang-Claude, J. (Jenny), Easton, D.F. (Douglas), and Dunning, A.M. (Alison)
Abstract: The 6q25.1 locus was first identified via a genome-wide association study (GWAS) in Chinese women and marked by single nucleotide polymorphism (SNP) rs2046210, approximately 180 Kb upstream of ESR1. There have been conflicting reports about the association of this locus with breast cancer in Europeans, and a GWAS in Europeans identified a different SNP, tagged here by rs12662670. We examined the associations of both SNPs in up to 61,689 cases and 58,822 controls from forty-four studies collaborating in the Breast Cancer Association Consortium, of which four studies were of Asian and 39 of European descent. Logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (CI). Case-only analyses were used to compare SNP effects in Estrogen Receptor positive (ER+) versus negative (ER-) tumours. Models including both SNPs were fitted to investigate whether the SNP effec
Published: 2012
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31. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

Author: Antoniou, A.C. (Antonis), Kartsonaki, C. (Christiana), Sinilnikova, O. (Olga), Soucy, P. (Penny), McGuffog, L. (Lesley), Healey, S. (Sue), Lee, A. (Andrew), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Zaffaroni, D. (D.), Cattaneo, E. (Elisa), Barile, M. (Monica), Pensotti, V. (Valeria), Pasini, B. (Barbara), Dolcetti, R. (Riccardo), Giannini, G. (Giuseppe), Putignano, A.L., Varesco, L. (Liliana), Radice, P. (Paolo), Mai, P.L. (Phuong), Greene, M.H. (Mark), Andrulis, I.L. (Irene), Glendon, G. (Gord), Ozcelik, H. (Hilmi), Thomassen, M. (Mads), Gerdes, A-M. (Anne-Marie), Kruse, T.A. (Torben), Jensen, U.B., Cruger, D. (Dorthe), Caligo, M.A. (Maria), Laitman, Y. (Yael), Milgrom, R. (Roni), Kaufman, B. (Bella), Paluch-Shimon, S. (Shani), Friedman, E. (Eitan), Loman, N. (Niklas), Harbst, K. (Katja), Lindblom, A. (Annika), Melin, B. (Beatrice), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Rebbeck, R. (Timothy), Jakubowska, A. (Anna), Lubinski, J. (Jan), Gronwald, J. (Jacek), Huzarski, T. (Tomasz), Byrski, T. (Tomasz), Cybulski, C. (Cezary), Górski, B. (Bohdan), Osorio, A. (Ana), Cajal, T.R., Fostira, F. (Florentia), Andres, R. (Raquel), Benitez, J. (Javier), Hamann, U. (Ute), Hogervorst, F.B.L. (Frans), Rookus, M.A. (Matti), Hooning, M.J. (Maartje), Nelen, M.R. (Marcel), Luijt, R.B. (Rob) van der, Os, T.A.M. (Theo) van, Asperen, C.J. (Christi) van, Devilee, P. (Peter), Meijers-Heijboer, H. (Hanne), Garcia, E.B.G., Peock, S. (Susan), Cook, M. (Margaret), Frost, D., Platte, R. (Radka), Leyland, J. (Jean), Evans, D.G. (Gareth), Lalloo, F. (Fiona), Eeles, R. (Rosalind), Izatt, L. (Louise), Davidson, R. (Rosemarie), Eccles, D. (Diana), Ong, K.-R., Douglas, F. (Fiona), Paterson, J. (Joan), Kennedy, M.J. (John), Miedzybrodzka, Z. (Zosia), Godwin, A.K. (Andrew), Stoppa-Lyonnet, D. (Dominique), Buecher, B. (Bruno), Belotti, M. (Muriel), Tirapo, C. (Carole), Mazoyer, S. (Sylvie), Barjhoux, L. (Laure), Lasset, C. (Christine), Leroux, D. (Dominique), Faivre, L. (Laurence), Bronner, M. (Myriam), Prieur, F. (Fabienne), Nogues, C. (Catherine), Rouleau, E. (Etienne), Pujol, P. (Pascal), Coupier, I. (Isabelle), Frenay, M. (Marc), Hopper, J. (John), Daly, M.J. (Mark), Terry, M-B. (Mary-beth), John, E.M. (Esther), Buys, S.S. (Saundra), Yassin, Y. (Yosuf), Miron, A. (Alexander), Goldgar, D. (David), Singer, C.F. (Christian), Tea, M.-K., Pfeiler, G. (Georg), Dressler, C. (Catherina), Hansen, T.V.O. (Thomas), Jønson, L. (Lars), Ejlertsen, B. (Bent), Barkardottir, R.B. (Rosa), Kircchoff, T. (Tomas), Offit, K. (Kenneth), Piedmonte, M. (Marion), Rodriguez, G.C. (Gustavo), Small, L. (Laurie), Boggess, J.F. (John), Blank, S.V. (Stephanie), Basil, J. (Jack), Azodi, M. (Masoud), Toland, A.E. (Amanda), Montagna, M. (Marco), Tognazzo, S. (Silvia), Agata, S. (Simona), Imyanitov, E.N. (Evgeny), Janavicius, R. (Ramunas), Lázaro, C. (Conxi), Blanco, I. (Ignacio), Pharoah, P.D.P. (Paul), Sucheston, L. (Lara), Karlan, B.Y. (Beth), Walsh, C.S. (Christine), Olah, E. (Edith), Bozsik, A. (Aniko), Teo, S.-H. (Soo-Hwang), Seldon, J.L. (Joyce), Beattie, M.S. (Mary), Rensburg, E.J. (Elizabeth) van, Sluiter, M.D. (Michelle), Diez, O. (Orland), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Engel, C. (Christoph), Meindl, A. (Alfons), Ruehl, I. (Ina), Varon-Mateeva, R. (Raymonda), Kast, K. (Karin), Deissler, H. (Helmut), Niederacher, D. (Dieter), Arnold, N. (Norbert), Gadzicki, D. (Dorothea), Schönbuchner, I. (Ines), Caldes, T. (Trinidad), Hoya, M. (Miguel) de La, Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Dumont, M. (Martine), Chiquette, J. (Jocelyne), Tischkowitz, M. (Marc), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Spurdle, A.B. (Amanda), Neuhausen, S.L. (Susan), Ding, Y.C. (Yuan), Fredericksen, Z. (Zachary), Wang, X. (Xing), Pankratz, V.S. (Shane), Couch, F.J. (Fergus), Simard, J. (Jacques), Easton, D.F. (Douglas), Karlsson, P. (Per), Nordling, M. (Margareta), Bergman, A. (Annika), Einbeigi, Z. (Zakaria), Stenmark-Askmalm, M. (M.), Liedgren, S. (Sigrun), Borg, Å. (Åke), Olsson, H. (Hans), Kristoffersson, U. (Ulf), Jernström, H. (H.), Henriksson, K. (Karin), Wachenfeldt, A. (Anna) von, Liljegren, A. (Annelie), Barbany-Bustinza, G. (Gisela), Rantala, J. (Johanna), Grönberg, H. (Henrik), Stattin, E.-L., Emanuelsson, M. (Monica), Brandell, R.R., Dahl, N. (Niklas), Verhoef, S., Verheus, M. (Martijn), Veer, L.J. (Laura) van 't, Leeuwen, F.E. (Flora) van, Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Jager, A. (Agnes), Tilanus-Linthorst, M.M.A. (Madeleine), Seynaeve, C.M. (Caroline), Wijnen, J.T. (Juul), Vreeswijk, M.P. (Maaike), Tollenaar, R.A.E.M. (Rob), Ligtenberg, M.J. (Marjolijn), Hoogerbrugge, N. (Nicoline), Ausems, M.G.E.M. (Margreet), Aalfs, C.M. (Cora), Gille, J.J.P. (Jan), Waisfisz, Q. (Quinten), Gómez García, E.B. (Encarna), Roozendaal, C.E. (Cees) van, Blok, M.J. (Marinus), Caanen, B., Oosterwijk, J.C., Hout, A.H. (Annemarie) van der, Mourits, M.J., Vasen, H.F. (Hans), Gregory, H. (Helen), Morrison, P.J. (Patrick), Jeffers, L. (Lisa), Cole, T.J. (Trevor), McKeown, C. (Carole), Hoffman, J. (Jonathan), Donaldson, A. (Alan), Downing, S. (Sarah), Taylor, A. (Amy), Murray, A. (Alexandra), Rogers, M.T. (Mark), McCann, E. (Emma), Porteous, M.E. (Mary), Drummond, S. (Sarah), Brewer, C. (Carole), Kivuva, E. (Emma), Searle, A. (Anne), Goodman, S. (Selina), Hill, K. (Kathryn), Murday, V. (Victoria), Bradshaw, N. (Nicola), Snadden, L. (Lesley), Longmuir, M. (Mark), Watt, C. (Catherine), Gibson, S. (Sarah), Haque, E. (Eshika), Tobias, E. (Ed), Duncan, A. (Alexis), Jacobs, C. (Chris), Langman, C. (Caroline), Whaite, A. (Anna), Dorkins, H. (Huw), Barwell, J. (Julian), Chu, C. (Chengbin), Miller, J. (Julie), Ellis, I.O. (Ian), Houghton, C. (Catherine), Side, L. (Lucy), Male, A. (Alison), Berlin, C. (Cheryl), Eason, J. (Jacqueline), Collier, R. (Rebecca), Claber, O. (Oonagh), Jobson, I. (Irene), Walker, L.J. (Lisa), McLeod, D. (Diane), Halliday, D. (Dorothy), Durell, S. (Sarah), Stayner, B. (Barbara), Shanley, S. (Susan), Rahman, N. (Nazneen), Houlston, R. (Richard), Bancroft, E.K. (Elizabeth), D'Mello, L. (Lucia), Page, E. (Elizabeth), Ardern-Jones, A. (Audrey), Kohut, K. (Kelly), Wiggins, J. (Jennifer), Castro, E. (Elena), Mitra, A. (Anita), Robertson, L. (Lisa), Quarrell, O. (Oliver), Bardsley, C. (Cathryn), Ehrencrona, H. (Hans), Hodgson, S.V. (Shirley), Barton, D.E. (David), Goff, S. (Sheila), Brice, G. (Glen), Winchester, L. (Lizzie), Eddy, C. (Charlotte), Tripathi, V. (Vishakha), Attard, V. (Virginia), Lucassen, A. (Anneke), Crawford, G. (Gillian), McBride, D. (Donna), Smalley, S. (Sarah), Adlard, J.W. (Julian), Arver, B. (Brita Wasteson), Antoniou, A.C. (Antonis), Kartsonaki, C. (Christiana), Sinilnikova, O. (Olga), Soucy, P. (Penny), McGuffog, L. (Lesley), Healey, S. (Sue), Lee, A. (Andrew), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Zaffaroni, D. (D.), Cattaneo, E. (Elisa), Barile, M. (Monica), Pensotti, V. (Valeria), Pasini, B. (Barbara), Dolcetti, R. (Riccardo), Giannini, G. (Giuseppe), Putignano, A.L., Varesco, L. (Liliana), Radice, P. (Paolo), Mai, P.L. (Phuong), Greene, M.H. (Mark), Andrulis, I.L. (Irene), Glendon, G. (Gord), Ozcelik, H. (Hilmi), Thomassen, M. (Mads), Gerdes, A-M. (Anne-Marie), Kruse, T.A. (Torben), Jensen, U.B., Cruger, D. (Dorthe), Caligo, M.A. (Maria), Laitman, Y. (Yael), Milgrom, R. (Roni), Kaufman, B. (Bella), Paluch-Shimon, S. (Shani), Friedman, E. (Eitan), Loman, N. (Niklas), Harbst, K. (Katja), Lindblom, A. (Annika), Melin, B. (Beatrice), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Rebbeck, R. (Timothy), Jakubowska, A. (Anna), Lubinski, J. (Jan), Gronwald, J. (Jacek), Huzarski, T. (Tomasz), Byrski, T. (Tomasz), Cybulski, C. (Cezary), Górski, B. (Bohdan), Osorio, A. (Ana), Cajal, T.R., Fostira, F. (Florentia), Andres, R. (Raquel), Benitez, J. (Javier), Hamann, U. (Ute), Hogervorst, F.B.L. (Frans), Rookus, M.A. (Matti), Hooning, M.J. (Maartje), Nelen, M.R. (Marcel), Luijt, R.B. (Rob) van der, Os, T.A.M. (Theo) van, Asperen, C.J. (Christi) van, Devilee, P. (Peter), Meijers-Heijboer, H. (Hanne), Garcia, E.B.G., Peock, S. (Susan), Cook, M. (Margaret), Frost, D., Platte, R. (Radka), Leyland, J. (Jean), Evans, D.G. (Gareth), Lalloo, F. (Fiona), Eeles, R. (Rosalind), Izatt, L. (Louise), Davidson, R. (Rosemarie), Eccles, D. (Diana), Ong, K.-R., Douglas, F. (Fiona), Paterson, J. (Joan), Kennedy, M.J. (John), Miedzybrodzka, Z. (Zosia), Godwin, A.K. (Andrew), Stoppa-Lyonnet, D. (Dominique), Buecher, B. (Bruno), Belotti, M. (Muriel), Tirapo, C. (Carole), Mazoyer, S. (Sylvie), Barjhoux, L. (Laure), Lasset, C. (Christine), Leroux, D. (Dominique), Faivre, L. (Laurence), Bronner, M. (Myriam), Prieur, F. (Fabienne), Nogues, C. (Catherine), Rouleau, E. (Etienne), Pujol, P. (Pascal), Coupier, I. (Isabelle), Frenay, M. (Marc), Hopper, J. (John), Daly, M.J. (Mark), Terry, M-B. (Mary-beth), John, E.M. (Esther), Buys, S.S. (Saundra), Yassin, Y. (Yosuf), Miron, A. (Alexander), Goldgar, D. (David), Singer, C.F. (Christian), Tea, M.-K., Pfeiler, G. (Georg), Dressler, C. (Catherina), Hansen, T.V.O. (Thomas), Jønson, L. (Lars), Ejlertsen, B. (Bent), Barkardottir, R.B. (Rosa), Kircchoff, T. (Tomas), Offit, K. (Kenneth), Piedmonte, M. (Marion), Rodriguez, G.C. (Gustavo), Small, L. (Laurie), Boggess, J.F. (John), Blank, S.V. (Stephanie), Basil, J. (Jack), Azodi, M. (Masoud), Toland, A.E. (Amanda), Montagna, M. (Marco), Tognazzo, S. (Silvia), Agata, S. (Simona), Imyanitov, E.N. (Evgeny), Janavicius, R. (Ramunas), Lázaro, C. (Conxi), Blanco, I. (Ignacio), Pharoah, P.D.P. (Paul), Sucheston, L. (Lara), Karlan, B.Y. (Beth), Walsh, C.S. (Christine), Olah, E. (Edith), Bozsik, A. (Aniko), Teo, S.-H. (Soo-Hwang), Seldon, J.L. (Joyce), Beattie, M.S. (Mary), Rensburg, E.J. (Elizabeth) van, Sluiter, M.D. (Michelle), Diez, O. (Orland), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Engel, C. (Christoph), Meindl, A. (Alfons), Ruehl, I. (Ina), Varon-Mateeva, R. (Raymonda), Kast, K. (Karin), Deissler, H. (Helmut), Niederacher, D. (Dieter), Arnold, N. (Norbert), Gadzicki, D. (Dorothea), Schönbuchner, I. (Ines), Caldes, T. (Trinidad), Hoya, M. (Miguel) de La, Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Dumont, M. (Martine), Chiquette, J. (Jocelyne), Tischkowitz, M. (Marc), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Spurdle, A.B. (Amanda), Neuhausen, S.L. (Susan), Ding, Y.C. (Yuan), Fredericksen, Z. (Zachary), Wang, X. (Xing), Pankratz, V.S. (Shane), Couch, F.J. (Fergus), Simard, J. (Jacques), Easton, D.F. (Douglas), Karlsson, P. (Per), Nordling, M. (Margareta), Bergman, A. (Annika), Einbeigi, Z. (Zakaria), Stenmark-Askmalm, M. (M.), Liedgren, S. (Sigrun), Borg, Å. (Åke), Olsson, H. (Hans), Kristoffersson, U. (Ulf), Jernström, H. (H.), Henriksson, K. (Karin), Wachenfeldt, A. (Anna) von, Liljegren, A. (Annelie), Barbany-Bustinza, G. (Gisela), Rantala, J. (Johanna), Grönberg, H. (Henrik), Stattin, E.-L., Emanuelsson, M. (Monica), Brandell, R.R., Dahl, N. (Niklas), Verhoef, S., Verheus, M. (Martijn), Veer, L.J. (Laura) van 't, Leeuwen, F.E. (Flora) van, Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Jager, A. (Agnes), Tilanus-Linthorst, M.M.A. (Madeleine), Seynaeve, C.M. (Caroline), Wijnen, J.T. (Juul), Vreeswijk, M.P. (Maaike), Tollenaar, R.A.E.M. (Rob), Ligtenberg, M.J. (Marjolijn), Hoogerbrugge, N. (Nicoline), Ausems, M.G.E.M. (Margreet), Aalfs, C.M. (Cora), Gille, J.J.P. (Jan), Waisfisz, Q. (Quinten), Gómez García, E.B. (Encarna), Roozendaal, C.E. (Cees) van, Blok, M.J. (Marinus), Caanen, B., Oosterwijk, J.C., Hout, A.H. (Annemarie) van der, Mourits, M.J., Vasen, H.F. (Hans), Gregory, H. (Helen), Morrison, P.J. (Patrick), Jeffers, L. (Lisa), Cole, T.J. (Trevor), McKeown, C. (Carole), Hoffman, J. (Jonathan), Donaldson, A. (Alan), Downing, S. (Sarah), Taylor, A. (Amy), Murray, A. (Alexandra), Rogers, M.T. (Mark), McCann, E. (Emma), Porteous, M.E. (Mary), Drummond, S. (Sarah), Brewer, C. (Carole), Kivuva, E. (Emma), Searle, A. (Anne), Goodman, S. (Selina), Hill, K. (Kathryn), Murday, V. (Victoria), Bradshaw, N. (Nicola), Snadden, L. (Lesley), Longmuir, M. (Mark), Watt, C. (Catherine), Gibson, S. (Sarah), Haque, E. (Eshika), Tobias, E. (Ed), Duncan, A. (Alexis), Jacobs, C. (Chris), Langman, C. (Caroline), Whaite, A. (Anna), Dorkins, H. (Huw), Barwell, J. (Julian), Chu, C. (Chengbin), Miller, J. (Julie), Ellis, I.O. (Ian), Houghton, C. (Catherine), Side, L. (Lucy), Male, A. (Alison), Berlin, C. (Cheryl), Eason, J. (Jacqueline), Collier, R. (Rebecca), Claber, O. (Oonagh), Jobson, I. (Irene), Walker, L.J. (Lisa), McLeod, D. (Diane), Halliday, D. (Dorothy), Durell, S. (Sarah), Stayner, B. (Barbara), Shanley, S. (Susan), Rahman, N. (Nazneen), Houlston, R. (Richard), Bancroft, E.K. (Elizabeth), D'Mello, L. (Lucia), Page, E. (Elizabeth), Ardern-Jones, A. (Audrey), Kohut, K. (Kelly), Wiggins, J. (Jennifer), Castro, E. (Elena), Mitra, A. (Anita), Robertson, L. (Lisa), Quarrell, O. (Oliver), Bardsley, C. (Cathryn), Ehrencrona, H. (Hans), Hodgson, S.V. (Shirley), Barton, D.E. (David), Goff, S. (Sheila), Brice, G. (Glen), Winchester, L. (Lizzie), Eddy, C. (Charlotte), Tripathi, V. (Vishakha), Attard, V. (Virginia), Lucassen, A. (Anneke), Crawford, G. (Gillian), McBride, D. (Donna), Smalley, S. (Sarah), Adlard, J.W. (Julian), and Arver, B. (Brita Wasteson)
Abstract: Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r2= 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11-1.23, P-trend = 4.5 × 10-9for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 × 10-8for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.
Published: 2011
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32. Prevalence of the variant allele rs61764370 T>G in the 3′UTR of KRAS among Dutch BRCA1, BRCA2 and non-BRCA1/BRCA2 breast cancer families

Author: Hollestelle, A. (Antoinette), Pelletier, C. (Cory), Hooning, M.J. (Maartje), Crepin, E. (Ellen), Schutte, A.E.M. (Mieke), Look, M.P. (Maxime), Collée, J.M. (Margriet), Nieuwlaat, A. (Anja), Dorssers, L.C.J. (Lambert), Seynaeve, C.M. (Caroline), Aulchenko, Y.S. (Yurii), Martens, J.W.M. (John), Ouweland, A.M.W. (Ans) van den, Weidhaas, J. (Joanne), Hollestelle, A. (Antoinette), Pelletier, C. (Cory), Hooning, M.J. (Maartje), Crepin, E. (Ellen), Schutte, A.E.M. (Mieke), Look, M.P. (Maxime), Collée, J.M. (Margriet), Nieuwlaat, A. (Anja), Dorssers, L.C.J. (Lambert), Seynaeve, C.M. (Caroline), Aulchenko, Y.S. (Yurii), Martens, J.W.M. (John), Ouweland, A.M.W. (Ans) van den, and Weidhaas, J. (Joanne)
Abstract: Recently, a variant allele in the 3′UTR of the KRAS gene (rs61764370 T>G) was shown to be associated with an increased risk for developing non-small cell lung cancer, as well as ovarian cancer, and was most enriched in ovarian cancer patients from hereditary breast and ovarian cancer families. This functional variant has been shown to disrupt a let-7 miRNA binding site leading to increased expression of KRAS in vitro. In the current study, we have genotyped this KRAS-variant in breast cancer index cases from 268 BRCA1 families, 89 BRCA2 families, 685 non-BRCA1/BRCA2 families, and 797 geographically matched controls. The allele frequency of the KRAS-variant was found to be increased among patients with breast cancer from BRCA1, but not BRCA2 or non-BRCA1/BRCA2 families as compared to controls. As BRCA1 carriers mostly develop ER-negative breast cancers, we also examined the variant allele frequency among indexes from non-BRCA1/BRCA2 families with ER-negative breast cancer. The prevalence of the KRAS-variant was, however, not significantly increased as compared to controls, suggesting that the variant allele not just simply associates with ER-negative breast cancer. Subsequent expansion of the number of BRCA1 carriers with breast cancer by including other family members in addition to the index cases resulted in loss of significance for the association between the variant allele and m
Published: 2011
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33. Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

Author: Maxwell, C.A. (Christopher), Benitez, J. (Javier), Gómez-Baldó, L. (Laia), Osorio, A. (Ana), Bonifaci, N. (Núria), Fernández-Ramires, R. (Ricardo), Costes, S.V. (Sylvain), Guinó, E. (Elisabet), Chen, H. (Helen), Evans, G.J.R. (Gareth), Mohan, P. (Pooja), Català, I. (Isabel), Petit, A. (Anna), Aguilar, H. (Helena), Villanueva, A. (Alberto), Aytes, A. (Alvaro), Serra-Musach, J. (Jordi), Rennert, G. (Gad), Lejbkowicz, F. (Flavio), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Ripamonti, C.B. (Carla), Bonnani, B. (Bernardo), Viel, A. (Alessandra), Allavena, A. (Anna), Bernard, L. (Loris), Radice, P. (Paolo), Friedman, E. (Eitan), Kaufman, B. (Bella), Laitman, Y. (Yael), Dubrovsky, M. (Maya), Milgrom, R. (Roni), Jakubowska, A. (Anna), Cybulski, C. (Cezary), Górski, B. (Bohdan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Sukiennicki, G. (Grzegorz), Lubinski, J. (Jan), Shugart, Y.Y., Domchek, S.M. (Susan), Letrero, R. (Richard), Hogervorst, F.B.L. (Frans), Rookus, M.A. (Matti), Collée, J.M. (Margriet), Devilee, P. (Peter), Ligtenberg, M.J. (Marjolijn), Luijt, R.B. (Rob) van der, Aalfs, C.M. (Cora), Waisfisz, Q. (Quinten), Wijnen, J.T. (Juul), Roozendaal, C.E.P. (Cornelis) van, Easton, D.F. (Douglas), Peock, S. (Susan), Cook, M. (Margaret), Oliver, C.T. (Clare), Frost, D. (Debra), harrington, P. (Patricia), Lalloo, F. (Fiona), Eeles, R. (Rosalind), Izatt, L. (Louise), Chu, C. (Chengbin), Eccles, D. (Diana), Douglas, F. (Fiona), Brewer, C. (Carole), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Couch, F.J. (Fergus), Lindor, N.M. (Noralane), Wang, X. (Xing), Godwin, A.K. (Andrew), Caligo, M.A. (Maria), Lombardi, G. (Grazia), Loman, N. (Niklas), Karlsson, P. (Per), Ehrencrona, H. (Hans), Wachenfeldt, A. (Anna) von, Barkardottir, R.B. (Rosa), Hamann, U. (Ute), Rashid, M.U. (Muhammad), Lasa, A. (Adriana), Caldes, T. (Trinidad), Andres, R. (Raquel), Schmitt, M. (Michael), Assmann, V. (Volker), Stevens, K. (Kristen), Offit, K. (Kenneth), Curado, J. (João), Tilgner, H. (Hagen), Guigó, R. (Roderic), Aiza, G. (Gemma), Brunet, J. (Joan), Castellsagué, J. (Joan), Martrat, G. (Griselda), Urruticoechea, A. (Ander), Blanco, I. (Ignacio), Tihomirova, L. (Laima), Goldgar, D. (David), Buys, S.S. (Saundra), John, E.M. (Esther), Miron, A. (Alexander), Southey, M.C. (Melissa), Daly, M.J. (Mark), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Meindl, A. (Alfons), Arnold, N. (Norbert), Deissler, H. (Helmut), Varon-Mateeva, R. (Raymonda), Sutter, C. (Christian), Niederacher, D. (Dieter), Imyamitov, E. (Evgeny), Sinilnikova, O. (Olga), Stoppa-Lyonne, D. (Dominique), Mazoyer, S. (Sylvie), Verny-Pierre, C. (Carole), Castera, L. (Laurent), Pauw, A. (Antoine) de, Bignon, Y.-J. (Yves-Jean), Uhrhammer, N. (Nancy), Peyrat, J.-P., Vennin, P. (Philippe), Ferrer, S.F., Collonge-Rame, M.-A., Mortemousque, I. (Isabelle), Spurdle, A.B. (Amanda), Beesley, J. (Jonathan), Healey, S. (Sue), Barcellos-Hoff, M.H., Vidal, M. (Marc), Gruber, S.B. (Stephen), Lázaro, C. (Conxi), Capellá, G. (Gabriel), McGuffog, L. (Lesley), Nathanson, K.L. (Katherine), Antoniou, A.C. (Antonis), Chenevix-Trench, G. (Georgia), Fleisch, M.C. (Markus), Moreno, V. (Víctor), Pujana, M.A., Weber, B.L. (Barbara), Maxwell, C.A. (Christopher), Benitez, J. (Javier), Gómez-Baldó, L. (Laia), Osorio, A. (Ana), Bonifaci, N. (Núria), Fernández-Ramires, R. (Ricardo), Costes, S.V. (Sylvain), Guinó, E. (Elisabet), Chen, H. (Helen), Evans, G.J.R. (Gareth), Mohan, P. (Pooja), Català, I. (Isabel), Petit, A. (Anna), Aguilar, H. (Helena), Villanueva, A. (Alberto), Aytes, A. (Alvaro), Serra-Musach, J. (Jordi), Rennert, G. (Gad), Lejbkowicz, F. (Flavio), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Ripamonti, C.B. (Carla), Bonnani, B. (Bernardo), Viel, A. (Alessandra), Allavena, A. (Anna), Bernard, L. (Loris), Radice, P. (Paolo), Friedman, E. (Eitan), Kaufman, B. (Bella), Laitman, Y. (Yael), Dubrovsky, M. (Maya), Milgrom, R. (Roni), Jakubowska, A. (Anna), Cybulski, C. (Cezary), Górski, B. (Bohdan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Sukiennicki, G. (Grzegorz), Lubinski, J. (Jan), Shugart, Y.Y., Domchek, S.M. (Susan), Letrero, R. (Richard), Hogervorst, F.B.L. (Frans), Rookus, M.A. (Matti), Collée, J.M. (Margriet), Devilee, P. (Peter), Ligtenberg, M.J. (Marjolijn), Luijt, R.B. (Rob) van der, Aalfs, C.M. (Cora), Waisfisz, Q. (Quinten), Wijnen, J.T. (Juul), Roozendaal, C.E.P. (Cornelis) van, Easton, D.F. (Douglas), Peock, S. (Susan), Cook, M. (Margaret), Oliver, C.T. (Clare), Frost, D. (Debra), harrington, P. (Patricia), Lalloo, F. (Fiona), Eeles, R. (Rosalind), Izatt, L. (Louise), Chu, C. (Chengbin), Eccles, D. (Diana), Douglas, F. (Fiona), Brewer, C. (Carole), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Couch, F.J. (Fergus), Lindor, N.M. (Noralane), Wang, X. (Xing), Godwin, A.K. (Andrew), Caligo, M.A. (Maria), Lombardi, G. (Grazia), Loman, N. (Niklas), Karlsson, P. (Per), Ehrencrona, H. (Hans), Wachenfeldt, A. (Anna) von, Barkardottir, R.B. (Rosa), Hamann, U. (Ute), Rashid, M.U. (Muhammad), Lasa, A. (Adriana), Caldes, T. (Trinidad), Andres, R. (Raquel), Schmitt, M. (Michael), Assmann, V. (Volker), Stevens, K. (Kristen), Offit, K. (Kenneth), Curado, J. (João), Tilgner, H. (Hagen), Guigó, R. (Roderic), Aiza, G. (Gemma), Brunet, J. (Joan), Castellsagué, J. (Joan), Martrat, G. (Griselda), Urruticoechea, A. (Ander), Blanco, I. (Ignacio), Tihomirova, L. (Laima), Goldgar, D. (David), Buys, S.S. (Saundra), John, E.M. (Esther), Miron, A. (Alexander), Southey, M.C. (Melissa), Daly, M.J. (Mark), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Meindl, A. (Alfons), Arnold, N. (Norbert), Deissler, H. (Helmut), Varon-Mateeva, R. (Raymonda), Sutter, C. (Christian), Niederacher, D. (Dieter), Imyamitov, E. (Evgeny), Sinilnikova, O. (Olga), Stoppa-Lyonne, D. (Dominique), Mazoyer, S. (Sylvie), Verny-Pierre, C. (Carole), Castera, L. (Laurent), Pauw, A. (Antoine) de, Bignon, Y.-J. (Yves-Jean), Uhrhammer, N. (Nancy), Peyrat, J.-P., Vennin, P. (Philippe), Ferrer, S.F., Collonge-Rame, M.-A., Mortemousque, I. (Isabelle), Spurdle, A.B. (Amanda), Beesley, J. (Jonathan), Healey, S. (Sue), Barcellos-Hoff, M.H., Vidal, M. (Marc), Gruber, S.B. (Stephen), Lázaro, C. (Conxi), Capellá, G. (Gabriel), McGuffog, L. (Lesley), Nathanson, K.L. (Katherine), Antoniou, A.C. (Antonis), Chenevix-Trench, G. (Georgia), Fleisch, M.C. (Markus), Moreno, V. (Víctor), Pujana, M.A., and Weber, B.L. (Barbara)
Abstract: Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark of breast carcinogenesis. In BRCA1 mutation carriers, accumulation of stem and progenitor cells in normal breast tissue and increased risk of developing tumors of basal-like type suggest that BRCA1 regulates stem/progenitor cell proliferation and differentiation. However, the function of BRCA1 in this process and its link to carcinogenesis remain unknown. Here we depict a molecular mechanism involving BRCA1 and RHAMM that regulates apicobasal polarity and, when perturbed, may increase risk of breast cancer. Starting from complementary genetic analyses across families and populations, we identified common genetic variation at the low-penetrance susceptibility HMMR locus (encoding for RHAMM) that modifies breast cancer risk among BRCA1, but probably not BRCA2, mutation carriers: n = 7,584, weighted hazard ratio (wHR) = 1.09 (95% CI 1.02-1.16), ptrend= 0.017; and n = 3,965,wHR = 1.04 (95% CI 0.94-1.16), ptrend= 0.43; respectively. Subsequently, studies of MCF10A apicobasal polarization revealed a central role for BRCA1 and RHAMM, together with AURKA and TPX2, in essential reorganization of microtubule
Published: 2011
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34. International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers

Author: Metcalfe, K.A. (Kelly), Birenbaum-Carmeli, D. (Daphna), Lubinski, J. (Jan), Gronwald, J. (Jacek), Lynch, H. (Henry), Moller, P. (Pal), Ghadirian, P. (Parviz), Foulkes, W.D. (William), Klijn, J.G.M. (Jan), Friedman, E. (Eitan), Kim-Sing, C. (Charmaine), Ainsworth, P.J. (Peter), Rosen, B. (Barry), Domchek, S.M. (Susan), Wagner, T. (Teresa), Tung, N. (Nadine), Manoukian, S. (Siranoush), Couch, F.J. (Fergus), Sun, P. (Ping), Narod, S. (Steven), Daly, M.J. (Mark), Eisen, A. (Andrea), Saal, H.M., Sweet, K., Lyonnet, D. (Dominique), Rennen, G., McLennan, J., Gershoni-Baruch, R., Garber, J., Cummings, S., Weitzel, J.N. (Jeffrey), Karlan, B.Y. (Beth), Kurz, R.N., McKinnon, W., Wood, M., Osborne, M. (Michael), Gilchrist, D., Chudley, A., Fishman, D. (David), Meschino, W.S., Lemire, E., Maugard, C., Mills, G., Merajver, S.D. (Sofia), Rayson, D., Collée, J.M. (Margriet), Metcalfe, K.A. (Kelly), Birenbaum-Carmeli, D. (Daphna), Lubinski, J. (Jan), Gronwald, J. (Jacek), Lynch, H. (Henry), Moller, P. (Pal), Ghadirian, P. (Parviz), Foulkes, W.D. (William), Klijn, J.G.M. (Jan), Friedman, E. (Eitan), Kim-Sing, C. (Charmaine), Ainsworth, P.J. (Peter), Rosen, B. (Barry), Domchek, S.M. (Susan), Wagner, T. (Teresa), Tung, N. (Nadine), Manoukian, S. (Siranoush), Couch, F.J. (Fergus), Sun, P. (Ping), Narod, S. (Steven), Daly, M.J. (Mark), Eisen, A. (Andrea), Saal, H.M., Sweet, K., Lyonnet, D. (Dominique), Rennen, G., McLennan, J., Gershoni-Baruch, R., Garber, J., Cummings, S., Weitzel, J.N. (Jeffrey), Karlan, B.Y. (Beth), Kurz, R.N., McKinnon, W., Wood, M., Osborne, M. (Michael), Gilchrist, D., Chudley, A., Fishman, D. (David), Meschino, W.S., Lemire, E., Maugard, C., Mills, G., Merajver, S.D. (Sofia), Rayson, D., and Collée, J.M. (Margriet)
Abstract: Several options for cancer prevention are available for women with a BRCA1 or BRCA2 mutation, including prophylactic surgery, chemoprevention and
Published: 2008
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35. Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics

Author: García-Closas, M. (Montserrat), Hall, P. (Per), Nevanlinna, H. (Heli), Pooley, K.A. (Karen), Morrison, J. (Jonathan), Richesson, D.A. (Douglas), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Axelsson, C.K. (Christen), Arias Pérez, J.I. (José Ignacio), Milne, R.L. (Roger), Ribas, G. (Gloria), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, P. (Pilar), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Bruening, T. (Thomas), Haas, S. (Susanne), Dörk, T. (Thilo), Schürmann, P. (Peter), Hillemanns, P. (Peter), Bogdanova, N.V. (Natalia), Bremer, M. (Michael), Karstens, J.H. (Johann), Fagerholm, R. (Rainer), Aaltonen, K. (Kirsimari), Aittomäki, K. (Kristiina), Smitten, K. (Karl) von, Blomqvist, C. (Carl), Mannermaa, A. (Arto), Uusitupa, M. (Matti), Eskelinen, M. (Matti), Tengström, M. (Maria), Kosma, V-M. (Veli-Matti), Kataja, V. (Vesa), Chenevix-Trench, G. (Georgia), Spurdle, A.B. (Amanda), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Devilee, P. (Peter), Asperen, C.J. (Christi) van, Jacobi, C.E. (Catharina), Tollenaar, R.A.E.M. (Rob), Huijts, P. (Petra), Klijn, J.G.M. (Jan), Chang-Claude, J. (Jenny), Kropp, S. (Silke), Slanger, T. (Tracy), Flesch-Janys, D. (Dieter), Mutschelknauss, E. (Elke), Salazar, R. (Ramona), Wang-Gohrke, S. (Shan), Couch, F.J. (Fergus), Goode, E.L. (Ellen), Olson, J.E. (Janet), Vachon, C. (Celine), Fredericksen, Z. (Zachary), Giles, G.G. (Graham), Baglietto, L. (Laura), Severi, G. (Gianluca), Hopper, J.L. (John), English, D.R. (Dallas), Southey, M.C. (Melissa), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Kolonel, L.N. (Laurence), Le Marchand, L. (Loic), Stram, D.O. (Daniel), Hunter, D. (David), Hankinson, S.E. (Susan), Cox, A. (Angela), Tamimi, R. (Rulla), Kraft, P. (Peter), Sherman, M.E. (Mark), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Brinton, L.A. (Louise), Peplonska, B. (Beata), Hooning, M.J. (Maartje), Meijers-Heijboer, E.J. (Hanne), Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Uitterlinden, A.G. (André), Liu, J. (Jianjun), Low, Y.L., Yuqing, L. (Li), Humphreys, M.K. (Manjeet), Czene, K. (Kamila), Balasubramanian, S. (Sabapathy), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Blows, F. (Fiona), Driver, K. (Kristy), Dunning, A.M. (Alison), Tyrer, J.P. (Jonathan), Ponder, B.A.J. (Bruce), Sangrajrang, S. (Suleeporn), Brennan, P. (Paul), McKay, J.D. (James), Odefrey, F. (Fabrice), Gabrieau, V. (Valerie), Sigurdson, A.J. (Alice), Doody, M. (Michele), Struewing, J.P. (Jeffrey), Alexander, B.H. (Bruce), Easton, D.F. (Douglas), Pharoah, P.D.P. (Paul), García-Closas, M. (Montserrat), Hall, P. (Per), Nevanlinna, H. (Heli), Pooley, K.A. (Karen), Morrison, J. (Jonathan), Richesson, D.A. (Douglas), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Axelsson, C.K. (Christen), Arias Pérez, J.I. (José Ignacio), Milne, R.L. (Roger), Ribas, G. (Gloria), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, P. (Pilar), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Bruening, T. (Thomas), Haas, S. (Susanne), Dörk, T. (Thilo), Schürmann, P. (Peter), Hillemanns, P. (Peter), Bogdanova, N.V. (Natalia), Bremer, M. (Michael), Karstens, J.H. (Johann), Fagerholm, R. (Rainer), Aaltonen, K. (Kirsimari), Aittomäki, K. (Kristiina), Smitten, K. (Karl) von, Blomqvist, C. (Carl), Mannermaa, A. (Arto), Uusitupa, M. (Matti), Eskelinen, M. (Matti), Tengström, M. (Maria), Kosma, V-M. (Veli-Matti), Kataja, V. (Vesa), Chenevix-Trench, G. (Georgia), Spurdle, A.B. (Amanda), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Devilee, P. (Peter), Asperen, C.J. (Christi) van, Jacobi, C.E. (Catharina), Tollenaar, R.A.E.M. (Rob), Huijts, P. (Petra), Klijn, J.G.M. (Jan), Chang-Claude, J. (Jenny), Kropp, S. (Silke), Slanger, T. (Tracy), Flesch-Janys, D. (Dieter), Mutschelknauss, E. (Elke), Salazar, R. (Ramona), Wang-Gohrke, S. (Shan), Couch, F.J. (Fergus), Goode, E.L. (Ellen), Olson, J.E. (Janet), Vachon, C. (Celine), Fredericksen, Z. (Zachary), Giles, G.G. (Graham), Baglietto, L. (Laura), Severi, G. (Gianluca), Hopper, J.L. (John), English, D.R. (Dallas), Southey, M.C. (Melissa), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Kolonel, L.N. (Laurence), Le Marchand, L. (Loic), Stram, D.O. (Daniel), Hunter, D. (David), Hankinson, S.E. (Susan), Cox, A. (Angela), Tamimi, R. (Rulla), Kraft, P. (Peter), Sherman, M.E. (Mark), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Brinton, L.A. (Louise), Peplonska, B. (Beata), Hooning, M.J. (Maartje), Meijers-Heijboer, E.J. (Hanne), Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Uitterlinden, A.G. (André), Liu, J. (Jianjun), Low, Y.L., Yuqing, L. (Li), Humphreys, M.K. (Manjeet), Czene, K. (Kamila), Balasubramanian, S. (Sabapathy), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Blows, F. (Fiona), Driver, K. (Kristy), Dunning, A.M. (Alison), Tyrer, J.P. (Jonathan), Ponder, B.A.J. (Bruce), Sangrajrang, S. (Suleeporn), Brennan, P. (Paul), McKay, J.D. (James), Odefrey, F. (Fabrice), Gabrieau, V. (Valerie), Sigurdson, A.J. (Alice), Doody, M. (Michele), Struewing, J.P. (Jeffrey), Alexander, B.H. (Bruce), Easton, D.F. (Douglas), and Pharoah, P.D.P. (Paul)
Abstract: A three-stage genome-wide association study recently identified single nucleotide polymorphisms (SNPs) in five loci (fibroblast growth receptor 2 (FGFR2), trinucleotide repeat containing 9 (TNRC9), mitogen-activated protein kinase 3 K1 (MAP3K1), 8q24, and lymphocyte-specific protein 1 (LSP1)) associated with breast cancer risk. We investigated whether the associations between these SNPs and breast cancer risk varied by clinically important tumor characteristics in up to 23,039 invasive breast cancer cases and 26,273 controls from 20 studies. We also evaluated their influence on overall survival in 13,527 cases from 13 studies. All participants were of European or Asian origin. rs2981582 in FGFR2 was more strongly related to ER-positive (per-allele OR (95%CI) = 1.31 (1.27-1.36)) than ER-negative (1.08 (1.03-1.14)) disease (P for heterogeneity = 10-13). This SNP was also more strongly related to PR-positive, low grade and node positive tumors (P = 10-5, 10-8, 0.013, respectively). The association for rs13281615 in 8q24 was stronger for ER-positive, PR-positive, and low grade tumors (P = 0.001, 0.011 and 10-4, respectively). The differences in the associations between SNPs in FGFR2 and 8q24 and risk by ER and grade remained significant after permutation adjustment for multiple comparisons and after adjustment for other tumor characteristics. Three SNPs (rs2981582, rs3803662, and rs889312) showed weak but significant associations with ER-negative disease, the strongest association being for rs3803662 in TNRC9 (1.14 (1.09-1.21)). rs13281615 in 8q24 was associated with an improvement in survival after diagnosis (per-allele HR = 0.90 (0.83-0.97). The association was attenuated and non-significant after adjusting for known prognostic factors. Our findings show that common genetic variants influence the pathological subtype of breast cancer and provide further support for the hypothesis that ER-positive and ER-negative disease are biologically distinct. Understanding the eti
Published: 2008
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35 results on '"Collée, J.M. (Margriet)"'

1. Long-term morbidity and health after early menopause due to oophorectomy in women at increased risk of ovarian cancer: Protocol for a nationwide cross-sectional study with prospective follow-up (HARMOny Study)

2. Reproductive decision-making in the context of hereditary cancer: the effects of an online decision aid on informed decision-making

3. The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations

4. The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations

5. Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers

6. Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers

7. Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision-making

8. The development of an online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making: a usability and pilot study

9. Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk

10. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

11. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

12. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1

13. Sensitivity to systemic therapy for metastatic breast cancer in CHEK2 1100delC mutation carriers

14. Timing of risk reducing mastectomy in breast cancer patients carrying a BRCA1/2 mutation: retrospective data from the Dutch HEBON study

15. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

16. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

17. Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriers

18. Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations

19. Survival and contralateral breast cancer in CHEK2 1100delC breast cancer patients: impact of adjuvant chemotherapy

20. DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

21. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

22. MicroRNA related polymorphisms and breast cancer risk

23. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

24. Refined histopathological predictors of BRCA1 and BRCA2 mutation status: A large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

25. The counselees' self-reported request for psychological help in genetic counseling for hereditary breast/ovarian cancer: Not only psychopathology matters

26. Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

27. Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

28. Rare variants in XRCC2 as breast cancer susceptibility alleles

29. CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer

30. Comparison of 6q25 breast cancer hits from Asian and European genome wide association studies in the Breast Cancer Association consortium (BCAC)

31. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

32. Prevalence of the variant allele rs61764370 T>G in the 3′UTR of KRAS among Dutch BRCA1, BRCA2 and non-BRCA1/BRCA2 breast cancer families

33. Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

34. International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers

35. Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics

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