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1. Transanal minimally invasive surgery (TAMIS) versus endoscopic submucosal dissection (ESD) for resection of non-pedunculated rectal lesions (TRIASSIC study): Study protocol of a European multicenter randomised controlled trial

Author: Dekkers, N. (Nik), Boonstra, J.J. (Jurjen), Moons, L.M.G. (Leon), Hompes, R. (Roel), Bastiaansen, D. (Dennis), Tuynman, J.B., Koch, A.D. (Arjun), Weusten, B.L. (Bas), Pronk, A. (Apollo), Neijenhuis, P.A. (Peter), Westerterp, M. (Marinke), Hout, W.B. (Wilbert) van den, Langers, A.M. (Alexandra), Van Der Kraan, J. (Jolein), Alkhalaf, A. (Alaa), Lai, J.Y.L. (Jonathan Y. L.), Borg, F. (Frank) ter, Fabry, H. (Hans), Halet, E. (Eric), Schwartz, M.P. (Matthijs), Nagengast, W.B. (Wouter B.), Straathof, J.W.A., Ten Hove, R.W.R. (Rogier W. R.), Oterdoom, L.H. (Leendert H.), Hoff, C. (Christiaan), Belt, E.J.T. (Eric), Zimmerman, D.D.E. (David), Hadithi, M. (Muhammed), Morreau, H. (Hans), De Cuba, E.M.V., Leijtens, J.W.A. (Jeroen), Vasen, H. (Hans), Leerdam, M.E. (Monique) van, Graaf, E.J.R. (Eelco) de, Doornebosch, P. (Pascal), Hardwick, J.C. (James), Dekkers, N. (Nik), Boonstra, J.J. (Jurjen), Moons, L.M.G. (Leon), Hompes, R. (Roel), Bastiaansen, D. (Dennis), Tuynman, J.B., Koch, A.D. (Arjun), Weusten, B.L. (Bas), Pronk, A. (Apollo), Neijenhuis, P.A. (Peter), Westerterp, M. (Marinke), Hout, W.B. (Wilbert) van den, Langers, A.M. (Alexandra), Van Der Kraan, J. (Jolein), Alkhalaf, A. (Alaa), Lai, J.Y.L. (Jonathan Y. L.), Borg, F. (Frank) ter, Fabry, H. (Hans), Halet, E. (Eric), Schwartz, M.P. (Matthijs), Nagengast, W.B. (Wouter B.), Straathof, J.W.A., Ten Hove, R.W.R. (Rogier W. R.), Oterdoom, L.H. (Leendert H.), Hoff, C. (Christiaan), Belt, E.J.T. (Eric), Zimmerman, D.D.E. (David), Hadithi, M. (Muhammed), Morreau, H. (Hans), De Cuba, E.M.V., Leijtens, J.W.A. (Jeroen), Vasen, H. (Hans), Leerdam, M.E. (Monique) van, Graaf, E.J.R. (Eelco) de, Doornebosch, P. (Pascal), and Hardwick, J.C. (James)
Abstract: Background: In the recent years two innovative approaches have become available for minimally invasive en bloc resections of large non-pedunculated rectal lesions (polyps and early cancers). One is Transanal Minimally Invasive Surgery (TAMIS), the other is Endoscopic Submucosal Dissection (ESD). Both techniques are standard of care, but a direct randomised comparison is lacking. The choice between either of these procedures is dependent on local expertise or availability rather than evidence-based. The European Society for Endoscopy has recommended that a comparison between ESD and local surgical resection is needed to guide decision making for the optimal approach for the removal of large rectal lesions in Western countries. The aim of this study is to directly compare both procedures in a randomised setting with regard to effectiveness, safety and perceived patient burden. Methods: Multicenter randomised trial in 15 hospitals in the Netherlands. Patients with non-pedunculated lesions > 2 cm, where the bulk of the lesion is below 15 cm from the anal verge, will be randomised between either a TAMIS or an ESD procedure. Lesions judged to be deeply invasive by an expert panel will be excluded. The primary endpoint is the cumulative local recurrence rate at follow-up rectoscopy at 12 months. Secondary endpoints are: 1) Radical (R0-) resection rate; 2) Perceived burden and quality of life; 3) Cost effectiveness at 12 months; 4) Surgical referral rate at 12 months; 5) Complication rate; 6) Local recurrence rate at 6 months. For this non-inferiority trial, the total sample size of 198 is based on an expected local recurrence rate of 3% in the ESD group, 6% in the TAMIS group and considering a difference of less than 6% to be non-inferior. Discussion: This is the first European randomised controlled trial comparing the effectiveness and safety of TAMIS and ESD for the en bloc resection of large non-pedunculated rectal lesions. This is important as the detection rate of the
Published: 2020
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2. Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

Author: Mikropoulos, C., Selkirk, C.G. (Christina), Saya, S. (Sibel), Bancroft, E.K. (Elizabeth), Vertosick, E. (Emily), Dadaev, T. (Tokhir), Brendler, C. (Charles), Page, E. (Elizabeth), Dias, A. (Alexander), Evans, D.G. (D Gareth), Rothwell, J. (Jeanette), Maehle, L., Axcrona, K., Richardson, K. (Kate), Eccles, D. (Diana), Jensen, T. (Thomas), Osther, P.J. (Palle J), Van Asperen, C.J. (Christi J), Vasen, H. (Hans), Kiemeney, L.A.L.M. (Bart), Ringelberg, J. (Janneke), Cybulski, C. (Cezary), Wokolorczyk, D. (Dominika), Hart, R. (Rachel), Glover, W. (Wayne), Lam, J. (Jimmy), Taylor, L. (Louise), Salinas, M., Feliubadaló, L. (L.), Oldenburg, R.A. (Rogier), Cremers, R.G.H.M. (Ruben), Verhaegh, G. (Gerald), Zelst-Stams, W.A. van, Oosterwijk, J.C. (Jan), Cook, J. (Jackie), Rosario, K. (Karyna), Buys, S.S. (Saundra S), Conner, T. (Tom), Domchek, S.M. (Susan), Powers, J. (Jacquelyn), Ausems, M.G.E.M. (Margreet), Teixeira, M.R. (Manuel R), Maia, S. (Sofia), Izatt, L. (Louise), Schmutzler, R. (Rita), Rhiem, K. (Kerstin), Foulkes, W.D. (William), Boshari, T. (Talia), Davidson, R. (Rosemarie), Ruijs, M.W.G. (Marielle), Helderman-van den Enden, A.T.J.M. (Apollonia), Andrews, L. (Lesley), Walker, L.J. (Lisa), Snape, K. (Katie), Henderson, A. (Alex), Jobson, I. (Irene), Lindeman, G.J. (Geoffrey), Liljegren, A. (Annelie), Harris, M. (Marion), Adank, M.A. (Muriel), Kirk, J. (Judy), Taylor, A. (Amy), Susman, R. (Rachel), Chen-Shtoyerman, R. (Rakefet), Pachter, N. (Nicholas), Spigelman, A., Side, L. (Lucy), Zgajnar, J. (Janez), Mora, J. (Josefina), Brewer, C. (C.), Gadea, N. (Neus), Brady, A. (A.), Gallagher, D. (David), Os, T.A.M. (Theo) van, Donaldson, A. (Alan), Stefansdottir, V. (Vigdis), Barwell, J. (Julian), James, P.A. (Paul A), Murphy, D.G. (Declan), Friedman, E. (Eitan), Nicolai, N. (Nicola), Greenhalgh, T. (Trisha), Obeid, E. (Elias), Murthy, A.C. (Adeline C.), Copakova, L. (Lucia), McGrath, J. (John), Teo, S.-H. (Soo-Hwang), Strom, S. (Sara), Kast, K. (Karin), Leongamornlert, D.A. (Daniel A), Chamberlain, A. (Anthony), Pope, J. (Jenny), Newlin, A.C. (Anna C), Aaronson, N.K. (Neil), Ardern-Jones, A. (Audrey), Bangma, C.H. (Chris), Castro, E. (Elena), Dearnaley, D. (David), Eyfjord, J. (Jorunn), Falconer, A., Foster, C.S. (Christopher S), Grönberg, H. (Henrik), Hamdy, F. (Freddie), Johannson, O.T. (Oskar), Khoo, V., Lubinski, J. (Jan), Grindedal, E.M. (Eli Marie), McKinley, E.T. (Enid), Shackleton, K. (Kylie), Mitra, A. (Anita), Moynihan, C., Rennert, G. (Gad), Suri, M. (Mohnish), Tricker, K. (Karen), Moss, S. (Sue), Kote-Jarai, Z., Vickers, A.J. (Andrew), Lilja, H. (Hans), Helfand, B.T. (Brian T), Eeles, R.A. (Rosalind A.), Mikropoulos, C., Selkirk, C.G. (Christina), Saya, S. (Sibel), Bancroft, E.K. (Elizabeth), Vertosick, E. (Emily), Dadaev, T. (Tokhir), Brendler, C. (Charles), Page, E. (Elizabeth), Dias, A. (Alexander), Evans, D.G. (D Gareth), Rothwell, J. (Jeanette), Maehle, L., Axcrona, K., Richardson, K. (Kate), Eccles, D. (Diana), Jensen, T. (Thomas), Osther, P.J. (Palle J), Van Asperen, C.J. (Christi J), Vasen, H. (Hans), Kiemeney, L.A.L.M. (Bart), Ringelberg, J. (Janneke), Cybulski, C. (Cezary), Wokolorczyk, D. (Dominika), Hart, R. (Rachel), Glover, W. (Wayne), Lam, J. (Jimmy), Taylor, L. (Louise), Salinas, M., Feliubadaló, L. (L.), Oldenburg, R.A. (Rogier), Cremers, R.G.H.M. (Ruben), Verhaegh, G. (Gerald), Zelst-Stams, W.A. van, Oosterwijk, J.C. (Jan), Cook, J. (Jackie), Rosario, K. (Karyna), Buys, S.S. (Saundra S), Conner, T. (Tom), Domchek, S.M. (Susan), Powers, J. (Jacquelyn), Ausems, M.G.E.M. (Margreet), Teixeira, M.R. (Manuel R), Maia, S. (Sofia), Izatt, L. (Louise), Schmutzler, R. (Rita), Rhiem, K. (Kerstin), Foulkes, W.D. (William), Boshari, T. (Talia), Davidson, R. (Rosemarie), Ruijs, M.W.G. (Marielle), Helderman-van den Enden, A.T.J.M. (Apollonia), Andrews, L. (Lesley), Walker, L.J. (Lisa), Snape, K. (Katie), Henderson, A. (Alex), Jobson, I. (Irene), Lindeman, G.J. (Geoffrey), Liljegren, A. (Annelie), Harris, M. (Marion), Adank, M.A. (Muriel), Kirk, J. (Judy), Taylor, A. (Amy), Susman, R. (Rachel), Chen-Shtoyerman, R. (Rakefet), Pachter, N. (Nicholas), Spigelman, A., Side, L. (Lucy), Zgajnar, J. (Janez), Mora, J. (Josefina), Brewer, C. (C.), Gadea, N. (Neus), Brady, A. (A.), Gallagher, D. (David), Os, T.A.M. (Theo) van, Donaldson, A. (Alan), Stefansdottir, V. (Vigdis), Barwell, J. (Julian), James, P.A. (Paul A), Murphy, D.G. (Declan), Friedman, E. (Eitan), Nicolai, N. (Nicola), Greenhalgh, T. (Trisha), Obeid, E. (Elias), Murthy, A.C. (Adeline C.), Copakova, L. (Lucia), McGrath, J. (John), Teo, S.-H. (Soo-Hwang), Strom, S. (Sara), Kast, K. (Karin), Leongamornlert, D.A. (Daniel A), Chamberlain, A. (Anthony), Pope, J. (Jenny), Newlin, A.C. (Anna C), Aaronson, N.K. (Neil), Ardern-Jones, A. (Audrey), Bangma, C.H. (Chris), Castro, E. (Elena), Dearnaley, D. (David), Eyfjord, J. (Jorunn), Falconer, A., Foster, C.S. (Christopher S), Grönberg, H. (Henrik), Hamdy, F. (Freddie), Johannson, O.T. (Oskar), Khoo, V., Lubinski, J. (Jan), Grindedal, E.M. (Eli Marie), McKinley, E.T. (Enid), Shackleton, K. (Kylie), Mitra, A. (Anita), Moynihan, C., Rennert, G. (Gad), Suri, M. (Mohnish), Tricker, K. (Karen), Moss, S. (Sue), Kote-Jarai, Z., Vickers, A.J. (Andrew), Lilja, H. (Hans), Helfand, B.T. (Brian T), and Eeles, R.A. (Rosalind A.)
Abstract: Background:Prostate-specific antigen (PSA) and PSA-velocity (PSAV) have been used to identify men at risk of prostate cancer (PrCa). The IMPACT study is evaluating PSA screening in men with a known genetic predisposition to PrCa due to BRCA1/2 mutations. This analysis evaluates the utility of PSA and PSAV for identifying PrCa and high-grade disease in this cohort.Methods:PSAV was calculated using logistic regression to determine if PSA or PSAV predicted the result of prostate biopsy (PB) in men with elevated PSA values. Cox regression was used to determine whether PSA or PSAV predicted PSA elevation in men with low PSAs. Interaction terms were included in the models to determine whether BRCA status influenced the predictiveness of PSA or PSAV.Results:1634 participants had 3/43 PSA readings of whom 174 underwent PB and 45 PrCas diagnosed. In men with PSA >3.0 ng ml -l, PSAV was not significantly associated with presence of cancer or high-grade disease. PSAV did not add to PSA for predicting time to an elevated PSA. When comparing BRCA1/2 carriers to non-carriers, we found a significant interaction between BRCA status and last PSA before biopsy (P=0.031) and BRCA2 status and PSAV (P=0.024). However, PSAV was not predictive of biopsy outcome in BRCA2 carriers.Conclusions:PSA is more strongly predictive of PrCa in BRCA carriers than non-carriers. We did not find evidence that PSAV aids decision-making for BRCA carriers over absolute PSA value alone.
Published: 2018
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3. Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers

Author: Ghorbanoghli, Z., Nieuwenhuis, M.H. (Mary), Houwing-Duistermaat, J.J. (Jeanine), Jagmohan-Changur, S.C. (Shantie), Hes, F.J. (Frederik), Tops, C. (Carli), Wagner, A. (Anja), Aalfs, C.M. (Cora), Verhoef, S., Gómez García, E.B. (Encarna), Sijmons, R.H. (Rolf), Menko, F. (Fred), Letteboer, T.G.W. (Tom), Hoogerbrugge, N. (Nicoline), Wezel, T. (Tom) van, Vasen, H. (Hans), Wijnen, J.T. (Juul), Ghorbanoghli, Z., Nieuwenhuis, M.H. (Mary), Houwing-Duistermaat, J.J. (Jeanine), Jagmohan-Changur, S.C. (Shantie), Hes, F.J. (Frederik), Tops, C. (Carli), Wagner, A. (Anja), Aalfs, C.M. (Cora), Verhoef, S., Gómez García, E.B. (Encarna), Sijmons, R.H. (Rolf), Menko, F. (Fred), Letteboer, T.G.W. (Tom), Hoogerbrugge, N. (Nicoline), Wezel, T. (Tom) van, Vasen, H. (Hans), and Wijnen, J.T. (Juul)
Published: 2016
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4. Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients

Author: Jansen, A.M.L. (Anne M. L.), Geilenkirchen, M.A. (Marije A.), Wezel, T. (Tom) van, Jagmohan-Changur, S.C. (Shantie), Ruano, D. (Dina), Klift, H.M. (Heleen) van der, Van Den Akker, B.E.W.M. (Brendy E. W. M.), Laros, J.F.J. (Jeroen F.), Van Galen, M. (Michiel), Wagner, A. (Anja), Letteboer, T.G.W. (Tom), Gómez García, E.B. (Encarna), Tops, C. (Carli), Vasen, H. (Hans), Devilee, P. (Peter), Hes, F.J. (Frederik), Morreau, H. (Hans), Wijnen, J.T. (Juul), Jansen, A.M.L. (Anne M. L.), Geilenkirchen, M.A. (Marije A.), Wezel, T. (Tom) van, Jagmohan-Changur, S.C. (Shantie), Ruano, D. (Dina), Klift, H.M. (Heleen) van der, Van Den Akker, B.E.W.M. (Brendy E. W. M.), Laros, J.F.J. (Jeroen F.), Van Galen, M. (Michiel), Wagner, A. (Anja), Letteboer, T.G.W. (Tom), Gómez García, E.B. (Encarna), Tops, C. (Carli), Vasen, H. (Hans), Devilee, P. (Peter), Hes, F.J. (Frederik), Morreau, H. (Hans), and Wijnen, J.T. (Juul)
Abstract: Background and Aims Lynch Syndrome (LS) is caused by pathogenic germline variants in one of the mismatch repair (MMR) genes. However, up to 60% of MMR-deficient colorectal cancer cases are categorized as suspected Lynch Syndrome (sLS) because no pathogenic MMR germline variant can be identified, which leads to difficulties in clinical management. We therefore analyzed the genomic regions of 15 CRC susceptibility genes in leukocyte DNA of 34 unrelated sLS patients and 11 patients with MLH1 hypermethylated tumors with a clear family history. Methods Using targeted next-generation sequencing, we analyzed the entire non-repetitive genomic sequence, including intronic and regulatory sequences, of 15 CRC susceptibility genes. In addition, tumor DNA from 28 sLS patients was analyzed for somatic MMR variants. Results Of 1979 germline variants found in the leukocyte DNA of 34 sLS patients, one was a pathogenic variant (MLH1 c.1667+1delG). Leukocyte DNA of 11 patients with MLH1 hypermethylated tumors was negative for pathogenic germline variants in the tested CRC susceptibility genes and for germline MLH1 hypermethylation. Somatic DNA analysis of 28 sLS tumors identified eight (29%) cases with two pathogenic somatic variants, one with a VUS predicted to pathogenic and LOH, and nine cases (32%) with one pathogenic somatic variant (n = 8) or one VUS predicted to be pathogenic (n = 1). Conclusions This is the first study in sLS patients to include the entire genomic sequence of CRC susceptibility genes. An underlying somatic or germline MMR gene defect was identified in ten of 34 sLS patients (29%). In the remaining sLS patients, the underlying genetic defect explaining the MMRdeficiency in their tumors might be found outside the genomic regions harboring the MMR and other known CRC susceptibility genes.
Published: 2016
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5. Outcome of ovarian cancer after breast cancer in BRCA1 and BRCA2 mutation carriers

Author: Zaaijer, L.H. (Leendert H.), Van Doorn, H.C. (Helena C.), Mourits, M.J. (Marjan), Beurden, M. (Marc) van, Hullu, J.A. (Joanne) de, Adank, M.A. (Muriel), Lonkhuijzen, L. van, Vasen, H. (Hans), Slangen, A.H.L. (Arjen), Gaarenstroom, K.N. (Katja), Zweemer, R.P. (Ronald ), Vencken, P.M.L.H. (Peggy), Seynaeve, C.M. (Caroline), Kriege, M. (Mieke), Zaaijer, L.H. (Leendert H.), Van Doorn, H.C. (Helena C.), Mourits, M.J. (Marjan), Beurden, M. (Marc) van, Hullu, J.A. (Joanne) de, Adank, M.A. (Muriel), Lonkhuijzen, L. van, Vasen, H. (Hans), Slangen, A.H.L. (Arjen), Gaarenstroom, K.N. (Katja), Zweemer, R.P. (Ronald ), Vencken, P.M.L.H. (Peggy), Seynaeve, C.M. (Caroline), and Kriege, M. (Mieke)
Abstract: Background:It is unknown whether a history of breast cancer (BC) affects the outcome of BRCA1/2-associated epithelial ovarian cancer (EOC). This was investigated in the current analysis.Methods:We included 386 BRCA1/2-associated EOC patients diagnosed between 1980 and 2015. Progression-free survival (PFS), progression-free interval (PFI), overall survival (OS) and ovarian cancer-specific survival (OCSS) were compared between EOC patients with and without previous BC.Results:BRCA-associated EOC patients with, vs without, a BC history had a significantly worse PFS and PFI (multivariate hazard ratio (HR mult) 1.47; 95% confidence interval (CI) 1.03-2.08 and HR mult 1.43; 95% CI 1.01-2.03), and a non-significantly worse OS (HR mult 1.15; 95% CI 0.84-1.57) and OCSS (HR mult 1.18; 95% CI 0.85-1.62). Ovarian cancer-specific survival was significantly worse for the subgroup treated with adjuvant chemotherapy for BC (HR mult 1.99; 95% CI 1.21-3.31).Conclusions:Our results suggest that BRCA1/2-associated EOC patients with a previous BC have a worse outcome than EOC patients without BC, especially when treated with adjuvant chemotherapy.
Published: 2016
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6. 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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7. Recurrent Coding Sequence Variation Explains only A Small Fraction of the Genetic Architecture of Colorectal Cancer

Author: Timofeeva, M.N. (Maria N.), Kinnersley, B. (Ben), Farrington, S.M. (Susan M.), Whiffin, N. (Nicola), Palles, C. (Claire), Svinti, V. (Victoria), Lloyd, A. (Amy), Gorman, M. (Maggie), Ooi, L.-Y. (Li-Yin), Hosking, F. (Fay), Barclay, E. (Ella), Zgaga, L. (Lina), Dobbins, S.E. (Sara E.), Martin, L. (Lynn), Theodoratou, E. (Evropi), Broderick, P. (Peter), Tenesa, A. (Albert), Smillie, C. (Claire), Grimes, G. (Graeme), Hayward, C. (Caroline), Campbell, A. (Archie), Porteous, D. (David), Deary, I.J. (Ian), Harris, S.E. (Sarah), Northwood, J.B. (John Blackman), Barrett, J.H. (Jennifer H.), Smith, G. (Gillian), Wolf, R. (Roland), Forman, D. (David), Morreau, H. (Hans), Ruano, D. (Dina), Tops, C. (Carli), Wijnen, J.T. (Juul), Schrumpf, M. (Melanie), Boot, A. (Arnoud), Vasen, H. (Hans), Hes, F.J. (Frederik), Wezel, T. (Tom) van, Franke, A. (Andre), Lieb, W. (Wolgang), Schafmayer, C. (Clemens), Hampe, J. (Jochen), Buch, T. (Thorsten), Propping, P. (Peter), Hemminki, K. (Kari), Försti, A. (Asta), Westers, H. (Helga), Hofstra, R.M.W. (Robert), Pinheiro, M. (Manuela), Pinto, C. (Carla), Teixeira, P.J., Ruiz-Ponte, C. (Clara), Fernández-Rozadilla, C. (Ceres), Carracedo, A. (Angel), Castells, A., Castellví-Bel, S., Campbell, H. (Harry), Bishop, D.T. (David Timothy), Tomlinson, I. (Ian), Dunlop, M.G. (Malcolm), Houlston, R. (Richard), Timofeeva, M.N. (Maria N.), Kinnersley, B. (Ben), Farrington, S.M. (Susan M.), Whiffin, N. (Nicola), Palles, C. (Claire), Svinti, V. (Victoria), Lloyd, A. (Amy), Gorman, M. (Maggie), Ooi, L.-Y. (Li-Yin), Hosking, F. (Fay), Barclay, E. (Ella), Zgaga, L. (Lina), Dobbins, S.E. (Sara E.), Martin, L. (Lynn), Theodoratou, E. (Evropi), Broderick, P. (Peter), Tenesa, A. (Albert), Smillie, C. (Claire), Grimes, G. (Graeme), Hayward, C. (Caroline), Campbell, A. (Archie), Porteous, D. (David), Deary, I.J. (Ian), Harris, S.E. (Sarah), Northwood, J.B. (John Blackman), Barrett, J.H. (Jennifer H.), Smith, G. (Gillian), Wolf, R. (Roland), Forman, D. (David), Morreau, H. (Hans), Ruano, D. (Dina), Tops, C. (Carli), Wijnen, J.T. (Juul), Schrumpf, M. (Melanie), Boot, A. (Arnoud), Vasen, H. (Hans), Hes, F.J. (Frederik), Wezel, T. (Tom) van, Franke, A. (Andre), Lieb, W. (Wolgang), Schafmayer, C. (Clemens), Hampe, J. (Jochen), Buch, T. (Thorsten), Propping, P. (Peter), Hemminki, K. (Kari), Försti, A. (Asta), Westers, H. (Helga), Hofstra, R.M.W. (Robert), Pinheiro, M. (Manuela), Pinto, C. (Carla), Teixeira, P.J., Ruiz-Ponte, C. (Clara), Fernández-Rozadilla, C. (Ceres), Carracedo, A. (Angel), Castells, A., Castellví-Bel, S., Campbell, H. (Harry), Bishop, D.T. (David Timothy), Tomlinson, I. (Ian), Dunlop, M.G. (Malcolm), and Houlston, R. (Richard)
Abstract: Whilst common genetic variation in many non-coding genomic regulatory regions are known to impart risk of colorectal cancer (CRC), much of the heritability of CRC remains unexplained. To examine the role of recurrent coding sequence variation in CRC aetiology, we genotyped 12,638 CRCs cases and 29,045 controls from six European populations. Single-variant analysis identified a coding variant (rs3184504) in SH2B3 (12q24) associated with CRC risk (OR = 1.08, P = 3.9 × 10-7), and novel damaging coding variants in 3 genes previously tagged by GWAS efforts; rs16888728 (8q24) in UTP23 (OR = 1.15, P = 1.4 × 10-7); rs6580742 and rs12303082 (12q13) in FAM186A (OR = 1.11, P = 1.2 × 10-7
Published: 2015
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8. The role of the prostate cancer gene 3 urine test in addition to serum prostate-specific antigen level in prostate cancer screening among breast cancer, early-onset gene mutation carriers

Author: Cremers, R.G.H.M. (Ruben), Eeles, R. (Rosalind), Bancroft, E.K. (Elizabeth), Ringelberg-Borsboom, J. (Janneke), Vasen, H. (Hans), Asperen, C.J. (Christi) van, Schalken, J.A. (Jack), Verhaegh, G. (Gerald), Kiemeney, L.A.L.M. (Bart), Aaronson, N.K. (Neil), Ardem-Jones, A., Bangma, C.H. (Chris), Castro, E. (Elena), Dearnaley, D. (David), Eccles, D. (Diana), Evans, D.G. (Gareth), Eyfjord, J., Falconer, A., Foster, C.S. (Christopher), Grönberg, H. (Henrik), Hamdy, F. (Freddie), Johansson, O., Khoo, V., Kote-Jarai, Z., Lilja, H. (Hans), Lubinski, J. (Jan), Maehle, L., Melia, J., Mikropoulos, C., Mitchell, G. (Gillian), Mitra, A. (Anita), Moss, S.M. (Sue), Moynihan, C., Page, E. (Elizabeth), Rennert, G. (Gad), Suri, M. (Mohnish), Wilson, P., Cremers, R.G.H.M. (Ruben), Eeles, R. (Rosalind), Bancroft, E.K. (Elizabeth), Ringelberg-Borsboom, J. (Janneke), Vasen, H. (Hans), Asperen, C.J. (Christi) van, Schalken, J.A. (Jack), Verhaegh, G. (Gerald), Kiemeney, L.A.L.M. (Bart), Aaronson, N.K. (Neil), Ardem-Jones, A., Bangma, C.H. (Chris), Castro, E. (Elena), Dearnaley, D. (David), Eccles, D. (Diana), Evans, D.G. (Gareth), Eyfjord, J., Falconer, A., Foster, C.S. (Christopher), Grönberg, H. (Henrik), Hamdy, F. (Freddie), Johansson, O., Khoo, V., Kote-Jarai, Z., Lilja, H. (Hans), Lubinski, J. (Jan), Maehle, L., Melia, J., Mikropoulos, C., Mitchell, G. (Gillian), Mitra, A. (Anita), Moss, S.M. (Sue), Moynihan, C., Page, E. (Elizabeth), Rennert, G. (Gad), Suri, M. (Mohnish), and Wilson, P.
Abstract: Objective: To evaluate the additive value of the prostate cancer gene 3 (PCA3) urine test to serum prostate-specific antigen (PSA) in prostate cancer (PC) screening among breast cancer, early-onset gene (BRCA) mutation carriers. This study was performed among the Dutch participants of IMPACT, a large international study on the effectiveness of PSA screening among BRCA mutation carriers. Materials and methods: Urinary PCA3 was measured in 191 BRCA1 mutation carriers, 75 BRCA2 mutation carriers, and 308 noncarriers. The physicians and participants were blinded for the results. Serum PSA level≥3.0. ng/ml was used to indicate prostate biopsies. PCA3 was evaluated (1) as an independent indicator for prostate biopsies and (2) as an indicator for prostate biopsies among men with an elevated P
Published: 2015
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9. 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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10. Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis

Author: Hes, F.J. (Frederik), Ruano, D. (Dina), Nieuwenhuis, M.H. (Mary), Tops, C. (Carli), Schrumpf, M. (Melanie), Nielsen, M. (Maartje), Huijts, P. (Petra), Wijnen, J.T. (Juul), Wagner, A. (Anja), Gómez García, E.B. (Encarna), Sijmons, R.H. (Rolf), Menko, F. (Fred), Letteboer, T.G.W. (Tom), Hoogerbrugge, N. (Nicoline), Harryvan, J. (Jan), Kampman, E. (Ellen), Morreau, H. (Hans), Vasen, H. (Hans), Wezel, T. (Tom) van, Hes, F.J. (Frederik), Ruano, D. (Dina), Nieuwenhuis, M.H. (Mary), Tops, C. (Carli), Schrumpf, M. (Melanie), Nielsen, M. (Maartje), Huijts, P. (Petra), Wijnen, J.T. (Juul), Wagner, A. (Anja), Gómez García, E.B. (Encarna), Sijmons, R.H. (Rolf), Menko, F. (Fred), Letteboer, T.G.W. (Tom), Hoogerbrugge, N. (Nicoline), Harryvan, J. (Jan), Kampman, E. (Ellen), Morreau, H. (Hans), Vasen, H. (Hans), and Wezel, T. (Tom) van
Abstract: Background: Colorectal adenomatous polyposis is associated with a high risk of colorectal cancer (CRC) and is frequently caused by germline mutations in APC or MUTYH. However, in about 20-30% of patients no underlying gene defect can be identified. In this study, we tested if recently identified CRC risk variants play a role in patients with >10 adenomas. Methods We analysed a total of 16 SNPs with a reported association with CR
Published: 2014
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11. Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: Results from the initial screening round of the IMPACT study

Author: Bancroft, E.K. (Elizabeth), Page, E. (Elizabeth), Castro, E. (Elena), Lilja, H. (Hans), Vickers, A.J. (Andrew), Sjoberg, D. (Daniel), Assel, M. (Matthias), Foster, C.S. (Christopher), Mitchell, G. (Gillian), Drew, K. (Kate), Maehle, L., Axcrona, K., Evans, D.G. (Gareth), Bulman, B., Eccles, D. (Diana), McBride, D. (Donna), Asperen, C.J. (Christi) van, Vasen, H. (Hans), Kiemeney, L.A.L.M. (Bart), Ringelberg, J. (Janneke), Cybulski, C. (Cezary), Wokolorczyk, D. (Dominika), Selkirk, C.G. (Christina), Hulick, P.J. (Peter), Bojesen, S.E. (Stig), Skytte, A.-B. (Anne-Bine), Lam, J. (Jimmy), Taylor, L. (Lorne), Oldenburg, R.A. (Rogier), Cremers, R.G.H.M. (Ruben), Verhaegh, G. (Gerald), Zelst-Stams, W.A. van, Oosterwijk, J.C. (Jan), Blanco, I. (Ignacio), Salinas, M., Cook, J. (Jackie), Rosario, K. (Karyna), Buys, S.S. (Saundra), Conner, T. (Tom), Ausems, M.G.E.M. (Margreet), Ong, K.-R. (Kai-Ren), Hoffman, J. (Jonathan), Domchek, S.M. (Susan), Powers, J. (Jacquelyn), Teixeira, P.J., Maia, S. (Sofia), Foulkes, W.D. (William), Taherian, N. (Nassim), Ruijs, M.W.G. (Marielle), Enden, A.T.H.-V. (Apollonia T. Helderman-Van) den, Izatt, L. (Louise), Davidson, R. (Rosemarie), Adank, M.A. (Muriel), Walker, L.J. (Lisa), Schmutzler, R.K. (Rita), Tucker, K. (Kathryn), Kirk, J. (Judy), Hodgson, S.V. (Shirley), Harris, M. (Marion), Douglas, F. (Fiona), Lindeman, G.J. (Geoffrey), Zgajnar, J. (Janez), Tischkowitz, M. (Marc), Clowes, V., Susman, R. (Rachel), Ramon Y Cajal, T., Patcher, N. (Nicholas), Gadea, N. (Neus), Spigelman, A., Os, T.A.M. (Theo) van, Liljegren, A. (Annelie), Side, L. (Lucy), Brewer, C. (Carole), Brady, A.F. (Angela), Donaldson, A. (Alan), Stefansdottir, V. (Vigdis), Friedman, E. (Eitan), Chen-Shtoyerman, R. (Rakefet), Amor, D. (David), Copakova, L. (Lucia), Barwell, J. (Julian), Giri, V.N. (Veda), Murthy, A.C. (Adeline C.), Nicolai, N. (Nicola), Teo, S.-H. (Soo-Hwang), Greenhalgh, T. (Trisha), Strom, S., Henderson, A. (Alex), McGrath, J. (John), Gallagher, D. (David), Aaronson, N.K. (Neil), Ardern-Jones, A. (Audrey), Bangma, C.H. (Chris), Dearnaley, D. (David), Costello, A. (Anthony), Eyfjord, J., Rothwell, J. (Jeanette), Falconer, A., Grönberg, H. (Henrik), Hamdy, F. (Freddie), Johannson, O.T. (Oskar), Khoo, V., Kote-Jarai, Z., Lubinski, J. (Jan), Melia, J., McKinley, E.T. (Enid), Mitra, A. (Anita), Moynihan, C., Rennert, G. (Gad), Suri, M. (Mohnish), Wilson, P., Killick, S.R., Moss, S.M. (Sue), Eeles, R. (Rosalind), Bancroft, E.K. (Elizabeth), Page, E. (Elizabeth), Castro, E. (Elena), Lilja, H. (Hans), Vickers, A.J. (Andrew), Sjoberg, D. (Daniel), Assel, M. (Matthias), Foster, C.S. (Christopher), Mitchell, G. (Gillian), Drew, K. (Kate), Maehle, L., Axcrona, K., Evans, D.G. (Gareth), Bulman, B., Eccles, D. (Diana), McBride, D. (Donna), Asperen, C.J. (Christi) van, Vasen, H. (Hans), Kiemeney, L.A.L.M. (Bart), Ringelberg, J. (Janneke), Cybulski, C. (Cezary), Wokolorczyk, D. (Dominika), Selkirk, C.G. (Christina), Hulick, P.J. (Peter), Bojesen, S.E. (Stig), Skytte, A.-B. (Anne-Bine), Lam, J. (Jimmy), Taylor, L. (Lorne), Oldenburg, R.A. (Rogier), Cremers, R.G.H.M. (Ruben), Verhaegh, G. (Gerald), Zelst-Stams, W.A. van, Oosterwijk, J.C. (Jan), Blanco, I. (Ignacio), Salinas, M., Cook, J. (Jackie), Rosario, K. (Karyna), Buys, S.S. (Saundra), Conner, T. (Tom), Ausems, M.G.E.M. (Margreet), Ong, K.-R. (Kai-Ren), Hoffman, J. (Jonathan), Domchek, S.M. (Susan), Powers, J. (Jacquelyn), Teixeira, P.J., Maia, S. (Sofia), Foulkes, W.D. (William), Taherian, N. (Nassim), Ruijs, M.W.G. (Marielle), Enden, A.T.H.-V. (Apollonia T. Helderman-Van) den, Izatt, L. (Louise), Davidson, R. (Rosemarie), Adank, M.A. (Muriel), Walker, L.J. (Lisa), Schmutzler, R.K. (Rita), Tucker, K. (Kathryn), Kirk, J. (Judy), Hodgson, S.V. (Shirley), Harris, M. (Marion), Douglas, F. (Fiona), Lindeman, G.J. (Geoffrey), Zgajnar, J. (Janez), Tischkowitz, M. (Marc), Clowes, V., Susman, R. (Rachel), Ramon Y Cajal, T., Patcher, N. (Nicholas), Gadea, N. (Neus), Spigelman, A., Os, T.A.M. (Theo) van, Liljegren, A. (Annelie), Side, L. (Lucy), Brewer, C. (Carole), Brady, A.F. (Angela), Donaldson, A. (Alan), Stefansdottir, V. (Vigdis), Friedman, E. (Eitan), Chen-Shtoyerman, R. (Rakefet), Amor, D. (David), Copakova, L. (Lucia), Barwell, J. (Julian), Giri, V.N. (Veda), Murthy, A.C. (Adeline C.), Nicolai, N. (Nicola), Teo, S.-H. (Soo-Hwang), Greenhalgh, T. (Trisha), Strom, S., Henderson, A. (Alex), McGrath, J. (John), Gallagher, D. (David), Aaronson, N.K. (Neil), Ardern-Jones, A. (Audrey), Bangma, C.H. (Chris), Dearnaley, D. (David), Costello, A. (Anthony), Eyfjord, J., Rothwell, J. (Jeanette), Falconer, A., Grönberg, H. (Henrik), Hamdy, F. (Freddie), Johannson, O.T. (Oskar), Khoo, V., Kote-Jarai, Z., Lubinski, J. (Jan), Melia, J., McKinley, E.T. (Enid), Mitra, A. (Anita), Moynihan, C., Rennert, G. (Gad), Suri, M. (Mohnish), Wilson, P., Killick, S.R., Moss, S.M. (Sue), and Eeles, R. (Rosalind)
Abstract: Background Men with germline breast cancer 1, early onset (BRCA1) or breast cancer 2, early onset (BRCA2) gene mutations have a higher risk of developing prostate cancer (PCa) than noncarriers. IMPACT (Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted screening in BRCA1/2 mutation carriers and controls) is an international consortium of 62 centres in 20 countries evaluating the use of targeted PCa screening in men with BRCA1/2 mutations. Objective To report the first year's screening results for all men at enrolment in the study. Design, setting and participants We recruited men aged 40-69 yr with germline BRCA1/2 mutations and a control group of men who have tested negative for a pathogenic BRCA1 or BRCA2 mutation known to be present in their families. All men underwent prostate-specific antigen (PSA) testing at enrolment, and those men with PSA >3 ng/ml were offered prostate biopsy. Outcome measurements and statistical analysis PSA levels, PCa incidence, and tumour characteristics were evaluated. The Fisher exact test was used to compare the number of PCa cases among groups and the differences among disease types. Results and limitations We recruited 2481 men (791 BRCA1 carriers, 531 BRCA1 controls; 731 BRCA2 carriers, 428 BRCA2 controls). A total of 199 men (8%) presented with PSA >3.0 ng/ml, 162 biopsies were performed, and 59 PCas were diagnosed (18 BRCA1 carriers, 10 BRCA1 controls; 24 BRCA2 carriers, 7 BRCA2 controls); 66% of the tumours were classified as intermediate- or high
Published: 2014
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12. 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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13. Risks of less common cancers in proven mutation carriers with lynch syndrome

Author: Engel, C. (Christoph), Loeffler, M. (Markus), Steinke, V. (Verena), Rahner, N. (Nils), Holinski-Feder, E. (Elke), Dietmaier, W. (Wolfgang), Schackert, H.K. (Hans), Goergens, H. (Heike), Von Knebel Doeberitz, M. (Magnus), Goecke, T.O. (Timm), Schmiegel, W. (W.), Buettner, R. (Reinhard), Moeslein, G. (Gabriela), Letteboer, T.G.W. (Tom), Gómez García, E.B. (Encarna), Hes, F.J. (Frederik), Hoogerbrugge, N. (Nicoline), Menko, F. (Fred), Os, T.A.M. (Theo) van, Sijmons, R.H. (Rolf), Wagner, A. (Anja), Kluijt, I. (Irma), Propping, P. (Peter), Vasen, H. (Hans), Engel, C. (Christoph), Loeffler, M. (Markus), Steinke, V. (Verena), Rahner, N. (Nils), Holinski-Feder, E. (Elke), Dietmaier, W. (Wolfgang), Schackert, H.K. (Hans), Goergens, H. (Heike), Von Knebel Doeberitz, M. (Magnus), Goecke, T.O. (Timm), Schmiegel, W. (W.), Buettner, R. (Reinhard), Moeslein, G. (Gabriela), Letteboer, T.G.W. (Tom), Gómez García, E.B. (Encarna), Hes, F.J. (Frederik), Hoogerbrugge, N. (Nicoline), Menko, F. (Fred), Os, T.A.M. (Theo) van, Sijmons, R.H. (Rolf), Wagner, A. (Anja), Kluijt, I. (Irma), Propping, P. (Peter), and Vasen, H. (Hans)
Abstract: Purpose: Patients with Lynch syndrome are at high risk for colon and endometrial cancer, but also at an elevated risk for other less common cancers. The purpose of this retrospective cohort study was to provide risk estimates for these less common cancers in proven carriers of pathogenic mutations in the mismatch repair (MMR) genes MLH1, MSH2, and MSH6. Patients and Methods: Data were pooled from the German and Dutch national Lynch syndrome registries. Seven different cancer types were analyzed: stomach, small bowel, urinary bladder, other urothelial, breast, ovarian, and prostate cancer. Age-, sex- and MMR gene-specific cumulative risks (CRs) were calculated using the Kaplan-Meier method. Sex-specific incidence rates were compared with general population incidence rates by calculating standardized incidence ratios (SIRs). Multivariate Cox regression analysis was used to estimate the impact of sex and mutated gene on cancer risk. Results: The cohort comprised 2,118 MMR gene mutation carriers (MLH1, n = 806; MSH2, n = 1,004; MSH6, n = 308). All cancers were significantly more frequent than in the general population. The highest risks were found for male small bowel cancer (SIR, 251; 95% CI, 177 to 346; CR at 70 years, 12.0; 95% CI, 5.7 to 18.2). Breast cancer showed an SIR of 1.9 (95% CI, 1.4 to 2.4) and a CR of 14.4 (95% CI, 9.5 to 19.3). MSH2 mutation carriers had a considerably higher risk of developing urothelial cancer than MLH1 or MSH6 carriers. Conclusion: The sex- and gene-specific differences of less common cancer risks should be taken into account in cancer surveillance and prevention programs for patients with Lynch syndrome.
Published: 2012
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14. Risks of lynch syndrome cancers for msh6 mutation carriers

Author: Baglietto, L. (Laura), Lindor, N.M. (Noralane), Dowty, J.G. (James), White, D.M. (Darren), Wagner, A. (Anja), Gómez García, E.B. (Encarna), Vriends, A.H.J.T. (Anette), Cartwright, N.R. (Nicola), Barnetson, R.A. (Rebecca), Farrington, S.M. (Susan), Tenesa, A. (Albert), Hampel, H. (Heather), Buchanan, D. (Daniel), Arnold, S. (Sven), Young, J. (Joanne), Walsh, M.D. (Michael), Jass, J. (Jeremy), Macrae, F.A. (Finlay), Antill, Y. (Yoland), Winship, I.M. (Ingrid), Giles, G.G. (Graham), Goldblatt, J. (Jack), Parry, S. (Susan), Suthers, G. (Graeme), Leggett, B. (Barbara), Butz, M. (Malinda), Aronson, M. (Melyssa), Poynter, J.N. (Jenny), Baron, J.A. (John), Le Marchand, L. (Loic), Haile, R. (Robert), Gallinger, S. (Steve), Hopper, J.L. (John), Potter, J. (John), La Chapelle, A. (Albert) de, Vasen, H. (Hans), Dunlop, M.G. (Malcolm), Thibodeau, S.N. (Stephen), Jenkins, M.A. (Mark), Baglietto, L. (Laura), Lindor, N.M. (Noralane), Dowty, J.G. (James), White, D.M. (Darren), Wagner, A. (Anja), Gómez García, E.B. (Encarna), Vriends, A.H.J.T. (Anette), Cartwright, N.R. (Nicola), Barnetson, R.A. (Rebecca), Farrington, S.M. (Susan), Tenesa, A. (Albert), Hampel, H. (Heather), Buchanan, D. (Daniel), Arnold, S. (Sven), Young, J. (Joanne), Walsh, M.D. (Michael), Jass, J. (Jeremy), Macrae, F.A. (Finlay), Antill, Y. (Yoland), Winship, I.M. (Ingrid), Giles, G.G. (Graham), Goldblatt, J. (Jack), Parry, S. (Susan), Suthers, G. (Graeme), Leggett, B. (Barbara), Butz, M. (Malinda), Aronson, M. (Melyssa), Poynter, J.N. (Jenny), Baron, J.A. (John), Le Marchand, L. (Loic), Haile, R. (Robert), Gallinger, S. (Steve), Hopper, J.L. (John), Potter, J. (John), La Chapelle, A. (Albert) de, Vasen, H. (Hans), Dunlop, M.G. (Malcolm), Thibodeau, S.N. (Stephen), and Jenkins, M.A. (Mark)
Abstract: Background: Germline mutations in MSH6 account for 10%-20% of Lynch syndrome colorectal cancers caused by hereditary DNA mismatch repair gene
Published: 2010
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15. Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome

Author: Burn, J. (John), Bishop, D.T. (David Timothy), Mecklin, J.-P. (Jukka-Pekka), Macrae, F.A. (Finlay), Möslein, G. (Gabriela), Olschwang, S. (Sylviane), Bisgaard, M.-L. (Marie-Luise), Ramesar, R.S. (Rajkumar), Eccles, D. (Diana), Maher, E.R. (Eamonn), Bertario, L. (Lucio), Jarvinen, H.J. (Heikki), Lindblom, A. (Annika), Evans, D.G. (Gareth), Lubinski, J. (Jan), Morrison, P.J. (Patrick), Ho, J.W.C. (Judy), Vasen, H. (Hans), Side, L. (Lucy), Thomas, H.J.W. (Huw ), Scott, R.J. (Rodney), Dunlop, M.G. (Malcolm), Barker, G. (Gail), Elliott, F. (Faye), Jass, J.R. (Jeremy ), Fodde, R. (Riccardo), Lynch, H. (Henry), Mathers, J.C. (John ), Burn, J. (John), Bishop, D.T. (David Timothy), Mecklin, J.-P. (Jukka-Pekka), Macrae, F.A. (Finlay), Möslein, G. (Gabriela), Olschwang, S. (Sylviane), Bisgaard, M.-L. (Marie-Luise), Ramesar, R.S. (Rajkumar), Eccles, D. (Diana), Maher, E.R. (Eamonn), Bertario, L. (Lucio), Jarvinen, H.J. (Heikki), Lindblom, A. (Annika), Evans, D.G. (Gareth), Lubinski, J. (Jan), Morrison, P.J. (Patrick), Ho, J.W.C. (Judy), Vasen, H. (Hans), Side, L. (Lucy), Thomas, H.J.W. (Huw ), Scott, R.J. (Rodney), Dunlop, M.G. (Malcolm), Barker, G. (Gail), Elliott, F. (Faye), Jass, J.R. (Jeremy ), Fodde, R. (Riccardo), Lynch, H. (Henry), and Mathers, J.C. (John )
Abstract: BACKGROUND: Observational and epidemiologic data indicate that the use of aspirin reduces the risk of colorectal neoplasia; however, the effects of aspirin in the Lynch syndrome (hereditary nonpolyposis colon cancer) are not known. Resistant starch has been associated with an antineoplastic effect on the colon. METHODS: In a randomized, placebo-controlled trial, we used a two-by-two design to investigate the effects of aspirin, at a dose of 600 mg per day, and resistant starch (Novelose), at a dose of 30 g per day, in reducing the risk of adenoma and carcinoma among persons with the Lynch syndrome. RESULTS: Among 1071 persons in 43 centers, 62 were ineligible to participate in the study, 72 did not enter the study, and 191 withdrew from the study. These three categories were equally distributed across the study groups. Over a mean period of 29 months (range, 7 to 74), colonic adenoma or carcinoma developed in 141 participants. Of 693 participants randomly assigned to receive aspirin or placebo, neoplasia developed in 66 participants receiving aspirin (18.9%), as compared with 65 receiving placebo (19.0%) (relative risk, 1.0; 95% confidence interval [CI], 0.7 to 1.4). There were no significant differences between the two groups with respect to the development of advanced neoplasia (7.4% and 9.9%, respectively; P = 0.33). Among the 727 participants receiving resistant starch or placebo, neoplasia developed in 67 participants receiving starch (18.7%), as compared with 68 receiving placebo (18.4%) (relative risk, 1.0; 95% CI, 0.7 to 1.4). Advanced adenomas and colorectal cancers were evenly distributed in the two groups. The prevalence of serious adverse events was low, and the events were evenly distributed. CONCLUSIONS: The use of aspirin, resistant starch, or both for up to 4 years has no effect on the incidence of colorectal adenoma or carcinoma among carriers of the Lynch syndrome. (Current Controlled Trials number, ISRCTN59521990.) Copyright
Published: 2008
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16. The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype

Author: Meijers-Heijboer, E.J. (Hanne), Moslein, G., Lynch, H., Wasielewski, M. (Marijke), Fodde, R. (Riccardo), Wagner, A. (Anja), Elstrodt, F. (Fons), Verkuijlen, P., Tops, C. (Carli), Burn, J. (John), Bos, R.R. (Renate) van den, Snoo, A. (Anja) de, Schutte, A.E.M. (Mieke), Franken, P.F. (Patrick), Fat, G.T., Jagmohan, S., Chapman, P., Brekelmans, C.T. (Cecile), Wijnen, J.T. (Juul), Vasen, H. (Hans), Ouweland, A.M.W. (Ans) van den, Klijn, J.G.M. (Jan), Hollestelle, A. (Antoinette), Meijers-Heijboer, E.J. (Hanne), Moslein, G., Lynch, H., Wasielewski, M. (Marijke), Fodde, R. (Riccardo), Wagner, A. (Anja), Elstrodt, F. (Fons), Verkuijlen, P., Tops, C. (Carli), Burn, J. (John), Bos, R.R. (Renate) van den, Snoo, A. (Anja) de, Schutte, A.E.M. (Mieke), Franken, P.F. (Patrick), Fat, G.T., Jagmohan, S., Chapman, P., Brekelmans, C.T. (Cecile), Wijnen, J.T. (Juul), Vasen, H. (Hans), Ouweland, A.M.W. (Ans) van den, Klijn, J.G.M. (Jan), and Hollestelle, A. (Antoinette)
Abstract: Because of genetic heterogeneity, the identification of breast cancer-susceptibility genes has proven to be exceedingly difficult. Here, we define a new subset of families with breast cancer characterized by the presence of colorectal cancer cases. The 1100delC variant of the cell cycle checkpoint kinase CHEK2 gene was present in 18% of 55 families with hereditary breast and colorectal cancer (HBCC) as compared with 4% of 380 families with non-HBCC (P<.001), thus providing genetic evidence for the HBCC phenotype. The CHEK2 1100delC mutation was, however, not the major predisposing factor for the HBCC phenotype but appeared to act in synergy with another, as-yet-unknown susceptibility gene(s). The unequivocal definition of the HBCC phenotype opens new avenues to search for this
Published: 2003

17. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

Author: Petrij-Bosch, A. (Anne), Peelen, T. (Tamara), Vliet, M. (Margreethe) van, Eijk, R. (Ronald) van, Olmer, R. (Renske), Drüsedau, M. (Marion), Hogervorst, F.B.L. (Frans), Hageman, G.S. (Gregory), Arts, W.F.M. (Willem Frans), Ligtenberg, M.J. (Marjolijn), Meijers-Heijboer, E.J. (Hanne), Klijn, J.G.M. (Jan), Vasen, H. (Hans), Cornelisse, C.J., Veer, L.J. (Laura) van 't, Bakker, E. (Egbert), Ommen, G.J. (Gert) van, Devilee, P. (Peter), Petrij-Bosch, A. (Anne), Peelen, T. (Tamara), Vliet, M. (Margreethe) van, Eijk, R. (Ronald) van, Olmer, R. (Renske), Drüsedau, M. (Marion), Hogervorst, F.B.L. (Frans), Hageman, G.S. (Gregory), Arts, W.F.M. (Willem Frans), Ligtenberg, M.J. (Marjolijn), Meijers-Heijboer, E.J. (Hanne), Klijn, J.G.M. (Jan), Vasen, H. (Hans), Cornelisse, C.J., Veer, L.J. (Laura) van 't, Bakker, E. (Egbert), Ommen, G.J. (Gert) van, and Devilee, P. (Peter)
Abstract: To date, more than 300 distinct small deletions, insertions and point mutations, mostly leading to premature termination of translation, have been reported in the breast/ovarian-cancer susceptibility gene BRCA1. The elevated frequencies of some mutations in certain ethnic subpopulations are caused by founder effects, rather than by mutation hotspots. Here we report that the currently available mutation spectrum of BRCA1 has been biased by PCR-based mutation-screening methods, such as SSCP, the protein truncation test (PTT) and direct sequencing, using genomic DNA as template. Three large genomic deletions that are not detected by these approaches comprise 36% of all BRCA1 mutations found in Dutch breast-cancer families to date. A 510-bp Alu- mediated deletion comprising exon 22 was found in 8 of 170 breast-cancer families recruited for research purposes and in 6 of 49 probands referred to the Amsterdam Family Cancer Clinic for genetic counselling. In addition, a 3,835-bp Alu-mediated deletion encompassing exon 13 was detected in 6 of the 170 research families, while an deletion of approximately 14 kb was detected in a single family. Haplotype analyses indicated that each recurrent deletion had a single common ancestor.
Published: 1997
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18. Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis

Author: Vasen, H. (Hans), Luijt, R.B. (Rob) van der, Slors, J.F.M. (Frederik), Buskens, E. (Erik), Ruiter, P.E. (Petra) de, Baeten, C.G.M.I., Schouten, W.R. (Ruud), Oostvogel, H.J.M. (Henk), Kuijpers, J.H.C. (J. H C), Tops, C. (Carli), Meera Khan, P. (P.), Vasen, H. (Hans), Luijt, R.B. (Rob) van der, Slors, J.F.M. (Frederik), Buskens, E. (Erik), Ruiter, P.E. (Petra) de, Baeten, C.G.M.I., Schouten, W.R. (Ruud), Oostvogel, H.J.M. (Henk), Kuijpers, J.H.C. (J. H C), Tops, C. (Carli), and Meera Khan, P. (P.)
Abstract: Background. In familial adenomatous polyposis the only curative treatment is colectomy, and the choice of operation lies between restorative proctocolectomy (RPC) and colectomy with ileorectal anastomosis (IRA). The RPC procedure carries a higher morbidity but, unlike IRA, removes the risk of subsequent rectal cancer. Since the course of familial adenomatous polyposis is influenced by the site of mutation in the polyposis gene, DNA analysis might be helpful in treatment decisions. Methods. We evaluated the incidence of rectal cancer in polyposis patients who had undergone IRA, and examined whether the requirement for subsequent rectal excision because of cancer or uncontrollable polyps was related to the site of mutation. Findings. Between 1956 and mid-1995, 225 patients registered at the Netherlands Polyposis Registry had undergone IRA. In 87 of them, a pathogenetic metation was detected. 72 patients had a mutation located before codeon 1250 and 15 patients after this codon. The cumulative risk of rectal cancer 20 years after surgery was 12%, and at that time 42% had undergone rectal excision. The risk of secondary surgery was higher in patients with mutations in the region after codon 1250 than in patinets with mutations before this codon (relative risk 2.7, p < 0.05). Interpretation. On this evidence, IRA should be the primary treatment for polyposis in patients with mutations before codon 1250, and RPC in those with mutations after this codon.
Published: 1996
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19. Rapid detection of BRCA1 mutations by the protein truncation test

Author: Hogervorst, F.B.L. (Frans), Cornelis, R.S. (Renée), Bout, M. (Mattie), Vliet, M. (Margreethe) van, Oosterwijk, J.C. (Jan), Olmer, R. (Renske), Bakker, B. (Boudewijn), Klijn, J.G.M. (Jan), Vasen, H. (Hans), Meijers-Heijboer, H. (Hanne), Menko, F. (Fred), Cornelisse, G.J. (Gees), Dunnen, J.T. (Johan) den, Devilee, P. (Peter), Ommen, G.J. (Gert) van, Hogervorst, F.B.L. (Frans), Cornelis, R.S. (Renée), Bout, M. (Mattie), Vliet, M. (Margreethe) van, Oosterwijk, J.C. (Jan), Olmer, R. (Renske), Bakker, B. (Boudewijn), Klijn, J.G.M. (Jan), Vasen, H. (Hans), Meijers-Heijboer, H. (Hanne), Menko, F. (Fred), Cornelisse, G.J. (Gees), Dunnen, J.T. (Johan) den, Devilee, P. (Peter), and Ommen, G.J. (Gert) van
Abstract: More than 75% of the reported mutations in the hereditary breast and ovarian cancer gene, BRCA1, result in truncated proteins. We have used the protein truncation test (PIT) to screen for mutations in exon 11, which encodes 61 % of BRCA1. In 45 patients from breast and/or ovarian cancer families we found six novel mutations: two single nucleotide insertions, three small deletions (1−5 bp) and a nonsense mutation identified two unrelated families. Furthermore, we were able to amplify the remaining coding region by RT−PCR using lymphocyte RNA. Combined with PTT, we detected aberrantly spliced products affecting exons 5 and 6 in one of two BRCA1−linked families examined. The protein truncation test promises to become a valuable technique in detecting BRCA1 mutations.
Published: 1995
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1. Transanal minimally invasive surgery (TAMIS) versus endoscopic submucosal dissection (ESD) for resection of non-pedunculated rectal lesions (TRIASSIC study): Study protocol of a European multicenter randomised controlled trial

2. Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

3. Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers

4. Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients

5. Outcome of ovarian cancer after breast cancer in BRCA1 and BRCA2 mutation carriers

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

7. Recurrent Coding Sequence Variation Explains only A Small Fraction of the Genetic Architecture of Colorectal Cancer

8. The role of the prostate cancer gene 3 urine test in addition to serum prostate-specific antigen level in prostate cancer screening among breast cancer, early-onset gene mutation carriers

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

10. Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis

11. Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: Results from the initial screening round of the IMPACT study

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

13. Risks of less common cancers in proven mutation carriers with lynch syndrome

14. Risks of lynch syndrome cancers for msh6 mutation carriers

15. Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome

16. The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype

17. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

18. Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis

19. Rapid detection of BRCA1 mutations by the protein truncation test

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