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1. Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

Author: Qian, Frank, Rookus, Matti A, Leslie, Goska, Risch, Harvey A, Greene, Mark H, Aalfs, Cora M, Adank, Muriel A, Adlard, Julian, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Andrulis, Irene L, Arnold, Norbert, Arun, Banu K, Ausems, Margreet GEM, Azzollini, Jacopo, Barrowdale, Daniel, Barwell, Julian, Benitez, Javier, Białkowska, Katarzyna, Bonadona, Valérie, Borde, Julika, Borg, Ake, Bradbury, Angela R, Brunet, Joan, Buys, Saundra S, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Carter, Jonathan, Chiquette, Jocelyne, Chung, Wendy K, Claes, Kathleen BM, Collée, J Margriet, Collonge-Rame, Marie-Agnès, Couch, Fergus J, Daly, Mary B, Delnatte, Capucine, Diez, Orland, Domchek, Susan M, Dorfling, Cecilia M, Eason, Jacqueline, Easton, Douglas F, Eeles, Ros, Engel, Christoph, Evans, D Gareth, Faivre, Laurence, Feliubadaló, Lidia, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, Garcia-Barberan, Vanesa, Gehrig, Andrea, Glendon, Gord, Godwin, Andrew K, Gómez Garcia, Encarna B, Hamann, Ute, Hauke, Jan, Hopper, John L, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, Janavicius, Ramunas, John, Esther M, Karlan, Beth Y, Kets, Carolien M, Laitman, Yael, Lázaro, Conxi, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Loud, Jennifer T, Lubiński, Jan, Łukomska, Alicja, McGuffog, Lesley, Mebirouk, Noura, Meijers-Heijboer, Hanne EJ, Meindl, Alfons, Miller, Austin, Montagna, Marco, Mooij, Thea M, Mouret-Fourme, Emmanuelle, Nathanson, Katherine L, Nehoray, Bita, Neuhausen, Susan L, Nevanlinna, Heli, Nielsen, Finn C, Offit, Kenneth, Olah, Edith, Ong, Kai-ren, Oosterwijk, Jan C, Ottini, Laura, Parsons, Michael T, Peterlongo, Paolo, Pfeiler, Georg, and Pradhan, Nisha
Subjects: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Clinical Research, Prevention, Ovarian Cancer, Breast Cancer, Genetics, Aging, Cancer, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Body Height, Body Mass Index, Female, Genes, BRCA1, Genes, BRCA2, Heterozygote, Humans, Mendelian Randomization Analysis, Menopause, Middle Aged, Mutation, Ovarian Neoplasms, Proportional Hazards Models, KConFab Investigators, HEBON Investigators, GEMO Study Collaborators, EMBRACE Collaborators, CIMBA, Public Health and Health Services, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract: BackgroundHeight and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether such associations exist among BRCA1/2 mutation carriers is unknown.MethodsWe applied a Mendelian randomisation approach to examine height/BMI with ovarian cancer risk using the Consortium of Investigators for the Modifiers of BRCA1/2 (CIMBA) data set, comprising 14,676 BRCA1 and 7912 BRCA2 mutation carriers, with 2923 ovarian cancer cases. We created a height genetic score (height-GS) using 586 height-associated variants and a BMI genetic score (BMI-GS) using 93 BMI-associated variants. Associations were assessed using weighted Cox models.ResultsObserved height was not associated with ovarian cancer risk (hazard ratio [HR]: 1.07 per 10-cm increase in height, 95% confidence interval [CI]: 0.94-1.23). Height-GS showed similar results (HR = 1.02, 95% CI: 0.85-1.23). Higher BMI was significantly associated with increased risk in premenopausal women with HR = 1.25 (95% CI: 1.06-1.48) and HR = 1.59 (95% CI: 1.08-2.33) per 5-kg/m2 increase in observed and genetically determined BMI, respectively. No association was found for postmenopausal women. Interaction between menopausal status and BMI was significant (Pinteraction
Published: 2019

2. Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

Author: Qian, Frank, Wang, Shengfeng, Mitchell, Jonathan, McGuffog, Lesley, Barrowdale, Daniel, Leslie, Goska, Oosterwijk, Jan C, Chung, Wendy K, Evans, D Gareth, Engel, Christoph, Kast, Karin, Aalfs, Cora M, Adank, Muriel A, Adlard, Julian, Agnarsson, Bjarni A, Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L, Arun, Banu K, Ausems, Margreet GEM, Azzollini, Jacopo, Barouk-Simonet, Emmanuelle, Barwell, Julian, Belotti, Muriel, Benitez, Javier, Berger, Andreas, Borg, Ake, Bradbury, Angela R, Brunet, Joan, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Campbell, Ian, Caputo, Sandrine M, Chiquette, Jocelyne, Claes, Kathleen BM, Margriet Collée, J, Couch, Fergus J, Coupier, Isabelle, Daly, Mary B, Davidson, Rosemarie, Diez, Orland, Domchek, Susan M, Donaldson, Alan, Dorfling, Cecilia M, Eeles, Ros, Feliubadaló, Lidia, Foretova, Lenka, Fowler, Jeffrey, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, Garcia-Barberan, Vanesa, Glendon, Gord, Godwin, Andrew K, Gómez Garcia, Encarna B, Gronwald, Jacek, Hahnen, Eric, Hamann, Ute, Henderson, Alex, Hendricks, Carolyn B, Hopper, John L, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Izquierdo, Ángel, Jakubowska, Anna, Kaczmarek, Katarzyna, Kang, Eunyoung, Karlan, Beth Y, Kets, Carolien M, Kim, Sung-Won, Kim, Zisun, Kwong, Ava, Laitman, Yael, Lasset, Christine, Hyuk Lee, Min, Won Lee, Jong, Lee, Jihyoun, Lester, Jenny, Lesueur, Fabienne, Loud, Jennifer T, Lubinski, Jan, Mebirouk, Noura, Meijers-Heijboer, Hanne EJ, Meindl, Alfons, Miller, Austin, Montagna, Marco, Mooij, Thea M, Morrison, Patrick J, Mouret-Fourme, Emmanuelle, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn C, Nussbaum, Robert L, and Offit, Kenneth
Subjects: GEMO Study Collaborators, HEBON, EMBRACE, Humans, Breast Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, BRCA2 Protein, Body Mass Index, Body Height, Prognosis, Risk Factors, Mutation, Polymorphism, Single Nucleotide, Adult, Female, Mendelian Randomization Analysis, Oncology & Carcinogenesis, Oncology and Carcinogenesis
Abstract: BackgroundBRCA1/2 mutations confer high lifetime risk of breast cancer, although other factors may modify this risk. Whether height or body mass index (BMI) modifies breast cancer risk in BRCA1/2 mutation carriers remains unclear.MethodsWe used Mendelian randomization approaches to evaluate the association of height and BMI on breast cancer risk, using data from the Consortium of Investigators of Modifiers of BRCA1/2 with 14 676 BRCA1 and 7912 BRCA2 mutation carriers, including 11 451 cases of breast cancer. We created a height genetic score using 586 height-associated variants and a BMI genetic score using 93 BMI-associated variants. We examined both observed and genetically determined height and BMI with breast cancer risk using weighted Cox models. All statistical tests were two-sided.ResultsObserved height was positively associated with breast cancer risk (HR = 1.09 per 10 cm increase, 95% confidence interval [CI] = 1.0 to 1.17; P = 1.17). Height genetic score was positively associated with breast cancer, although this was not statistically significant (per 10 cm increase in genetically predicted height, HR = 1.04, 95% CI = 0.93 to 1.17; P = .47). Observed BMI was inversely associated with breast cancer risk (per 5 kg/m2 increase, HR = 0.94, 95% CI = 0.90 to 0.98; P = .007). BMI genetic score was also inversely associated with breast cancer risk (per 5 kg/m2 increase in genetically predicted BMI, HR = 0.87, 95% CI = 0.76 to 0.98; P = .02). BMI was primarily associated with premenopausal breast cancer.ConclusionHeight is associated with overall breast cancer and BMI is associated with premenopausal breast cancer in BRCA1/2 mutation carriers. Incorporating height and BMI, particularly genetic score, into risk assessment may improve cancer management.
Published: 2019

3. Breast cancer risks associated with missense variants in breast cancer susceptibility genes

Author: Dorling, Leila, Carvalho, Sara, Allen, Jamie, Parsons, Michael T., Fortuno, Cristina, González-Neira, Anna, Heijl, Stephan M., Adank, Muriel A., Ahearn, Thomas U., Andrulis, Irene L., Auvinen, Päivi, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Bermisheva, Marina, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bremer, Michael, Briceno, Ignacio, Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Collée, J. Margriet, Czene, Kamila, Dennis, Joe, Dörk, Thilo, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Giles, Graham G., Glendon, Gord, Guénel, Pascal, Gündert, Melanie, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Harkness, Elaine F., Hartman, Mikael, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Jung, Audrey, Khusnutdinova, Elza, Kim, Sung-Won, Ko, Yon-Dschun, Kristensen, Vessela N., Lakeman, Inge M. M., Li, Jingmei, Lindblom, Annika, Loizidou, Maria A., Lophatananon, Artitaya, Lubiński, Jan, Luccarini, Craig, Madsen, Michael J., Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L., Mohd Taib, Nur Aishah, Muir, Kenneth, Nevanlinna, Heli, Newman, William G., Oosterwijk, Jan C., Park, Sue K., Peterlongo, Paolo, Radice, Paolo, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Shah, Mitul, Sim, Xueling, Southey, Melissa C., Surowy, Harald, Suvanto, Maija, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, van Asperen, Christi J., Waltes, Regina, Wang, Qin, Yang, Xiaohong R., Pharoah, Paul D. P., Schmidt, Marjanka K., Benitez, Javier, Vroling, Bas, Dunning, Alison M., Teo, Soo Hwang, Kvist, Anders, de la Hoya, Miguel, Devilee, Peter, Spurdle, Amanda B., Vreeswijk, Maaike P. G., and Easton, Douglas F.
Published: 2022
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4. Genetic Cancer Susceptibility in Adolescents and Adults 25 Years or Younger With Colorectal Cancer

Author: Mensenkamp, Arjen R., van Kessel, Ad Geurts, Spruijt, Liesbeth, Kets, C. Marleen, van Zelst-Stam, Wendy A.G., Schouten, Meyke I., Wevers, Marijke R., Olderode-Berends, Maran J.W., Oosterwijk, Jan C., Hitzert, Marrit M., Letteboer, Tom G.W., Stanković, Snežana, Kamping, Eveline J., Yuniati, Laurensia, van Leeuwen, Frank N., Weitz, Jürgen, van der Post, Rachel S., Teixeira, Manuel R., Liu, Huanliang, Wang, Jianping, Jongmans, Marjolijn C.J., Zhang, Junxiao, Kuiper, Roland P., Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L., and De Voer, Richarda M.
Published: 2022
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5. Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.

Author: Epi Kanker Team A, Cancer, JC onderzoeksprogramma Kanker, Genetica Klinische Genetica, Yang, Xin, Mooij, Thea M, Leslie, Goska, Ficorella, Lorenzo, Andrieu, Nadine, Kast, Karin, Singer, Christian F, Jakubowska, Anna, van Gils, Carla H, Tan, Yen Y, Engel, Christoph, Adank, Muriel A, van Asperen, Christi J, Ausems, Margreet G E M, Berthet, Pascaline, Collee, Margriet J, Cook, Jackie A, Eason, Jacqueline, Spaendonck-Zwarts, Karin Y van, Evans, D Gareth, Gómez García, Encarna B, Hanson, Helen, Izatt, Louise, Kemp, Zoe, Lalloo, Fiona, Lasset, Christine, Lesueur, Fabienne, Musgrave, Hannah, Nambot, Sophie, Noguès, Catherine, Oosterwijk, Jan C, Stoppa-Lyonnet, Dominique, Tischkowitz, Marc, Tripathi, Vishakha, Wevers, Marijke R, Zhao, Emily, van Leeuwen, Flora E, Schmidt, Marjanka K, Easton, Douglas F, Rookus, Matti A, Antoniou, Antonis C, EMBRACE Collaborators, Epi Kanker Team A, Cancer, JC onderzoeksprogramma Kanker, Genetica Klinische Genetica, Yang, Xin, Mooij, Thea M, Leslie, Goska, Ficorella, Lorenzo, Andrieu, Nadine, Kast, Karin, Singer, Christian F, Jakubowska, Anna, van Gils, Carla H, Tan, Yen Y, Engel, Christoph, Adank, Muriel A, van Asperen, Christi J, Ausems, Margreet G E M, Berthet, Pascaline, Collee, Margriet J, Cook, Jackie A, Eason, Jacqueline, Spaendonck-Zwarts, Karin Y van, Evans, D Gareth, Gómez García, Encarna B, Hanson, Helen, Izatt, Louise, Kemp, Zoe, Lalloo, Fiona, Lasset, Christine, Lesueur, Fabienne, Musgrave, Hannah, Nambot, Sophie, Noguès, Catherine, Oosterwijk, Jan C, Stoppa-Lyonnet, Dominique, Tischkowitz, Marc, Tripathi, Vishakha, Wevers, Marijke R, Zhao, Emily, van Leeuwen, Flora E, Schmidt, Marjanka K, Easton, Douglas F, Rookus, Matti A, Antoniou, Antonis C, and EMBRACE Collaborators
Published: 2024

6. Occurrence of malignancies other than breast and ovarian cancer in female carriers of a BRCA1/2 germline pathogenic variant

Author: Stuursma, Annechien, primary, Vegt, Bert Van der, additional, Berger, Lieke P.V., additional, Hoor, Maaike B. C. Ten, additional, Oosterwijk, Jan C., additional, Mourits, Marian J. E., additional, and De Bock, Geertruida H., additional
Published: 2024
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7. Reproductive decision-making in the context of hereditary cancer: the effects of an online decision aid on informed decision-making

Author: Reumkens, Kelly, Tummers, Marly H. E., Severijns, Yil, Gietel-Habets, Joyce J. G., van Kuijk, Sander M. J., Aalfs, Cora M., van Asperen, Christi J., Ausems, Margreet G. E. M., Collée, Margriet, Dommering, Charlotte J., Kets, Marleen, van der Kolk, Lizet E., Oosterwijk, Jan C., Tjan-Heijnen, Vivianne C. G., van der Weijden, Trudy, de Die-Smulders, Christine E. M., and van Osch, Liesbeth A. D. M.
Published: 2021
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8. Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

Author: Kuchenbaecker, Karoline B, Ramus, Susan J, Tyrer, Jonathan, Lee, Andrew, Shen, Howard C, Beesley, Jonathan, Lawrenson, Kate, McGuffog, Lesley, Healey, Sue, Lee, Janet M, Spindler, Tassja J, Lin, Yvonne G, Pejovic, Tanja, Bean, Yukie, Li, Qiyuan, Coetzee, Simon, Hazelett, Dennis, Miron, Alexander, Southey, Melissa, Terry, Mary Beth, Goldgar, David E, Buys, Saundra S, Janavicius, Ramunas, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Neuhausen, Susan L, Ding, Yuan Chun, Hansen, Thomas VO, Jønson, Lars, Gerdes, Anne-Marie, Ejlertsen, Bent, Barrowdale, Daniel, Dennis, Joe, Benitez, Javier, Osorio, Ana, Garcia, Maria Jose, Komenaka, Ian, Weitzel, Jeffrey N, Ganschow, Pamela, Peterlongo, Paolo, Bernard, Loris, Viel, Alessandra, Bonanni, Bernardo, Peissel, Bernard, Manoukian, Siranoush, Radice, Paolo, Papi, Laura, Ottini, Laura, Fostira, Florentia, Konstantopoulou, Irene, Garber, Judy, Frost, Debra, Perkins, Jo, Platte, Radka, Ellis, Steve, EMBRACE, Godwin, Andrew K, Schmutzler, Rita Katharina, Meindl, Alfons, Engel, Christoph, Sutter, Christian, Sinilnikova, Olga M, GEMO Study Collaborators, Damiola, Francesca, Mazoyer, Sylvie, Stoppa-Lyonnet, Dominique, Claes, Kathleen, De Leeneer, Kim, Kirk, Judy, Rodriguez, Gustavo C, Piedmonte, Marion, O'Malley, David M, de la Hoya, Miguel, Caldes, Trinidad, Aittomäki, Kristiina, Nevanlinna, Heli, Collée, J Margriet, Rookus, Matti A, Oosterwijk, Jan C, Breast Cancer Family Registry, Tihomirova, Laima, Tung, Nadine, Hamann, Ute, Isaccs, Claudine, Tischkowitz, Marc, Imyanitov, Evgeny N, Caligo, Maria A, Campbell, Ian G, Hogervorst, Frans BL, HEBON, Olah, Edith, Diez, Orland, Blanco, Ignacio, Brunet, Joan, Lazaro, Conxi, Pujana, Miquel Angel, Jakubowska, Anna, Gronwald, Jacek, Lubinski, Jan, and Sukiennicki, Grzegorz
Subjects: EMBRACE, GEMO Study Collaborators, Breast Cancer Family Registry, HEBON, KConFab Investigators, Australian Cancer Study, Australian Ovarian Cancer Study Group, Consortium of Investigators of Modifiers of BRCA1 and BRCA2, Humans, Neoplasms, Glandular and Epithelial, Ovarian Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, BRCA2 Protein, Risk, Genotype, Heterozygote, Mutation, Polymorphism, Single Nucleotide, Alleles, Genes, Reporter, Quantitative Trait Loci, Adolescent, Adult, Female, Genome-Wide Association Study, Young Adult, Carcinoma, Ovarian Epithelial, Human Genome, Rare Diseases, Genetics, Cancer, Prevention, Ovarian Cancer, 2.1 Biological and endogenous factors, Aetiology, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract: Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 and BRCA2 mutation carriers who are at high risk of EOC. After imputation to 1000 Genomes Project data, we assessed associations of 11 million genetic variants with EOC risk from 15,437 cases unselected for family history and 30,845 controls and from 15,252 BRCA1 mutation carriers and 8,211 BRCA2 mutation carriers (3,096 with ovarian cancer), and we combined the results in a meta-analysis. This new study design yielded increased statistical power, leading to the discovery of six new EOC susceptibility loci. Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P < 5 × 10(-8). Incorporating these variants into risk assessment tools will improve clinical risk predictions for BRCA1 and BRCA2 mutation carriers.
Published: 2015

9. MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc): a multicentre, randomised, controlled trial

Author: van Deurzen, Carolien HM, Loo, Claudette E, Wesseling, Jelle, Schlooz-Vries, Margrethe, van der Meij, Suzan, Mesker, Wilma, Keymeulen, Kristien, Contant, Carolien, Madsen, Eva, Koppert, Linetta B, Rothbarth, Joost, Veldhuis, Wouter B, Witkamp, Arjen J, Tetteroo, Eric, de Monye, Cecile, van Rosmalen, Mandy M, Remmelzwaal, Jolanda, Gort, Huub B W, Roi-Antonides, Roelie, Wasser, Martin NJM, van Druten, Edith, Saadatmand, Sepideh, Geuzinge, H Amarens, Rutgers, Emiel J T, Mann, Ritse M, de Roy van Zuidewijn, Diderick B W, Zonderland, Harmien M, Tollenaar, Rob A E M, Lobbes, Marc B I, Ausems, Margreet G E M, van 't Riet, Martijne, Hooning, Maartje J, Mares-Engelberts, Ingeborg, Luiten, Ernest J T, Heijnsdijk, Eveline A M, Verhoef, Cees, Karssemeijer, Nico, Oosterwijk, Jan C, Obdeijn, Inge-Marie, de Koning, Harry J, and Tilanus-Linthorst, Madeleine M A
Published: 2019
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10. Should women with a BRCA1/2 mutation aged 60 and older be offered intensified breast cancer screening? – A cost-effectiveness analysis

Author: Phi, Xuan-Anh, Greuter, Marcel J.W., Obdeijn, Inge-Marie, Oosterwijk, Jan C., Feenstra, Talitha L., Houssami, Nehmat, and de Bock, Geertruida H.
Published: 2019
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11. Cholesterol profile in women with premature menopause after risk reducing salpingo-oophorectomy

Author: Teixeira, Natalia, Mourits, Marian J., Oosterwijk, Jan C., Fakkert, Ingrid E., Absalom, Anthony R., Bakker, Stephan J. L., van der Meer, Peter, and de Bock, Geertruida H.
Published: 2019
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12. 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, Kelly, Tummers, Marly H. E., Gietel-Habets, Joyce J. G., van Kuijk, Sander M. J., Aalfs, Cora M., van Asperen, Christi J., Ausems, Margreet G. E. M., Collée, Margriet, Dommering, Charlotte J., Kets, C. Marleen, van der Kolk, Lizet E., Oosterwijk, Jan C., Tjan-Heijnen, Vivianne C. G., van der Weijden, Trudy, de Die-Smulders, Christine E. M., and van Osch, Liesbeth A. D. M.
Published: 2019
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13. Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Author: Antoniou, Antonis C, Kuchenbaecker, Karoline B, Soucy, Penny, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Lee, Andrew, Barrowdale, Daniel, Healey, Sue, Sinilnikova, Olga M, Caligo, Maria A, Loman, Niklas, Harbst, Katja, Lindblom, Annika, Arver, Brita, Rosenquist, Richard, Karlsson, Per, Nathanson, Kate, Domchek, Susan, Rebbeck, Tim, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Złowowcka-Perłowska, Elżbieta, Osorio, Ana, Durán, Mercedes, Andrés, Raquel, Benítez, Javier, Hamann, Ute, Hogervorst, Frans B, van Os, Theo A, Verhoef, Senno, Meijers-Heijboer, Hanne EJ, Wijnen, Juul, Gómez Garcia, Encarna B, Ligtenberg, Marjolijn J, Kriege, Mieke, Collée, J Margriet, Ausems, Margreet GEM, Oosterwijk, Jan C, Peock, Susan, Frost, Debra, Ellis, Steve D, Platte, Radka, Fineberg, Elena, Evans, D Gareth, Lalloo, Fiona, Jacobs, Chris, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Douglas, Fiona, Brewer, Carole, Hodgson, Shirley, Morrison, Patrick J, Walker, Lisa, Rogers, Mark T, Donaldson, Alan, Dorkins, Huw, Godwin, Andrew K, Bove, Betsy, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Buecher, Bruno, de Pauw, Antoine, Mazoyer, Sylvie, Calender, Alain, Léoné, Mélanie, Bressac- de Paillerets, Brigitte, Caron, Olivier, Sobol, Hagay, Frenay, Marc, Prieur, Fabienne, Ferrer, Sandra, Mortemousque, Isabelle, Buys, Saundra, Daly, Mary, Miron, Alexander, Terry, Mary, Hopper, John L, John, Esther M, Southey, Melissa, Goldgar, David, Singer, Christian F, Fink-Retter, Anneliese, Tea, Muy-Kheng, Kaulich, Daphne, Hansen, Thomas VO, Nielsen, Finn C, Barkardottir, Rosa B, Gaudet, Mia, Kirchhoff, Tomas, Joseph, Vijai, Dutra-Clarke, Ana, Offit, Kenneth, and Piedmonte, Marion
Abstract: AbstractIntroductionSeveral common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). MethodsTo evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12599 BRCA1 and 7132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework. ResultsOnly SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele Hazard Ratio (HR)= 0.87, 95%CI:0.81-0.94, P-trend=3x10^-4). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR=0.82, 95%CI:0.74-0.90, P-trend=3.1x10^-5, P-difference=0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend=0.015; rs1011970, P-trend=0.048; rs865686, 2df-P=0.007; rs1292011 2df-P=0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR=0.81, 95%CI: 0.74-0.90, P-trend=4x10^-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR=0.78, 95%CI:0.62-1.00, P-trend=0.049). ConclusionsThe present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers.
Published: 2012

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

Author: Derks-Smeets, Inge A. P., Schrijver, Lieske H., de Die-Smulders, Christine E. M., Tjan-Heijnen, Vivianne C. G., van Golde, Ron J. T., Smits, Luc J., Caanen, Beppy, van Asperen, Christi J., Ausems, Margreet, Collée, Margriet, van Engelen, Klaartje, Kets, C. Marleen, van der Kolk, Lizet, Oosterwijk, Jan C., van Os, Theo A. M., HEBON, Rookus, Matti A., van Leeuwen, Flora E., and Gómez García, Encarna B.
Published: 2018
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15. The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?

Author: Teixeira, Natalia, van der Hout, Annemieke, Oosterwijk, Jan C., Vos, Janet R., HEBON, Devilee, Peter, van Engelen, Klaartje, Meijers-Heijboer, Hanne, van der Luijt, Rob B., Kriege, Mieke, Mensenkamp, Arjen R., Rookus, Matti A., van Roozendaal, Kees E., Mourits, Marian J. E., and de Bock, Geertruida H.
Published: 2018
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16. Data from Variation in Mutation Spectrum Partly Explains Regional Differences in the Breast Cancer Risk of Female BRCA Mutation Carriers in the Netherlands

Author: Vos, Janet R., primary, Teixeira, Natalia, primary, van der Kolk, Dorina M., primary, Mourits, Marian J.E., primary, Rookus, Matti A., primary, van Leeuwen, Flora E., primary, Collée, Margriet, primary, van Asperen, Christi J., primary, Mensenkamp, Arjen R., primary, Ausems, Margreet G.E.M., primary, van Os, Theo A.M., primary, Meijers-Heijboer, Hanne E.J., primary, Gómez-Garcia, Encarna B., primary, Vasen, Hans F., primary, Brohet, Richard M., primary, van der Hout, Annemarie H., primary, Jansen, Liesbeth, primary, Oosterwijk, Jan C., primary, and de Bock, Geertruida H., primary
Published: 2023
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17. Supplementary Tables 1 through 5 from Variation in Mutation Spectrum Partly Explains Regional Differences in the Breast Cancer Risk of Female BRCA Mutation Carriers in the Netherlands

Author: Vos, Janet R., primary, Teixeira, Natalia, primary, van der Kolk, Dorina M., primary, Mourits, Marian J.E., primary, Rookus, Matti A., primary, van Leeuwen, Flora E., primary, Collée, Margriet, primary, van Asperen, Christi J., primary, Mensenkamp, Arjen R., primary, Ausems, Margreet G.E.M., primary, van Os, Theo A.M., primary, Meijers-Heijboer, Hanne E.J., primary, Gómez-Garcia, Encarna B., primary, Vasen, Hans F., primary, Brohet, Richard M., primary, van der Hout, Annemarie H., primary, Jansen, Liesbeth, primary, Oosterwijk, Jan C., primary, and de Bock, Geertruida H., primary
Published: 2023
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18. Data from Differences in Natural History between Breast Cancers in BRCA1 and BRCA2 Mutation Carriers and Effects of MRI Screening-MRISC, MARIBS, and Canadian Studies Combined

Author: Heijnsdijk, Eveline A.M., primary, Warner, Ellen, primary, Gilbert, Fiona J., primary, Tilanus-Linthorst, Madeleine M.A., primary, Evans, Gareth, primary, Causer, Petrina A., primary, Eeles, Rosalind A., primary, Kaas, Reinie, primary, Draisma, Gerrit, primary, Ramsay, Elizabeth A., primary, Warren, Ruth M.L., primary, Hill, Kimberly A., primary, Hoogerbrugge, Nicoline, primary, Wasser, Martin N.J.M., primary, Bergers, Elisabeth, primary, Oosterwijk, Jan C., primary, Hooning, Maartje J., primary, Rutgers, Emiel J.T., primary, Klijn, Jan G.M., primary, Plewes, Don B., primary, Leach, Martin O., primary, and de Koning, Harry J., primary
Published: 2023
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19. Supplementary Figure 1, Tables 1-2 from Differences in Natural History between Breast Cancers in BRCA1 and BRCA2 Mutation Carriers and Effects of MRI Screening-MRISC, MARIBS, and Canadian Studies Combined

Author: Heijnsdijk, Eveline A.M., primary, Warner, Ellen, primary, Gilbert, Fiona J., primary, Tilanus-Linthorst, Madeleine M.A., primary, Evans, Gareth, primary, Causer, Petrina A., primary, Eeles, Rosalind A., primary, Kaas, Reinie, primary, Draisma, Gerrit, primary, Ramsay, Elizabeth A., primary, Warren, Ruth M.L., primary, Hill, Kimberly A., primary, Hoogerbrugge, Nicoline, primary, Wasser, Martin N.J.M., primary, Bergers, Elisabeth, primary, Oosterwijk, Jan C., primary, Hooning, Maartje J., primary, Rutgers, Emiel J.T., primary, Klijn, Jan G.M., primary, Plewes, Don B., primary, Leach, Martin O., primary, and de Koning, Harry J., primary
Published: 2023
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20. Supplementary Table S1 from Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers

Author: Vos, Janet R., primary, Oosterwijk, Jan C., primary, Aalfs, Cora M., primary, Rookus, Matti A., primary, Adank, Muriel A., primary, van der Hout, Annemarie H., primary, van Asperen, Christi J., primary, Gómez Garcia, Encarna B., primary, Mensenkamp, Arjen R., primary, Jager, Agnes, primary, Ausems, Margreet G.E.M., primary, Mourits, Marian J., primary, and de Bock, Geertruida H., primary
Published: 2023
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21. PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis.

Author: Beek, I. van de, Glykofridis, I.E., Oosterwijk, Jan C., Akker, P.C. van den, Diercks, G.F., Bolling, M.C., Waisfisz, Q., Mensenkamp, A.R., Balk, J.A., Zwart, R. van der, Postma, A.V., Meijers-Heijboer, H.E., Moorselaar, R.J.A. van, Wolthuis, R.M.F., Houweling, A.C., Beek, I. van de, Glykofridis, I.E., Oosterwijk, Jan C., Akker, P.C. van den, Diercks, G.F., Bolling, M.C., Waisfisz, Q., Mensenkamp, A.R., Balk, J.A., Zwart, R. van der, Postma, A.V., Meijers-Heijboer, H.E., Moorselaar, R.J.A. van, Wolthuis, R.M.F., and Houweling, A.C.
Abstract: Item does not contain fulltext, Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder characterized by fibrofolliculomas, pulmonary cysts, pneumothoraces and renal cell carcinomas. Here, we reveal a novel hereditary disorder in a family with skin and mucosal lesions, extensive lipomatosis and renal cell carcinomas. The proband was initially diagnosed with BHD based on the presence of fibrofolliculomas, but no pathogenic germline variant was detected in FLCN, the gene associated with BHD. By whole exome sequencing we identified a heterozygous missense variant (p.(Cys677Tyr)) in a zinc-finger encoding domain of the PRDM10 gene which co-segregated with the phenotype in the family. We show that PRDM10Cys677Tyr loses affinity for a regulatory binding motif in the FLCN promoter, abrogating cellular FLCN mRNA and protein levels. Overexpressing inducible PRDM10Cys677Tyr in renal epithelial cells altered the transcription of multiple genes, showing overlap but also differences with the effects of knocking out FLCN. We propose that PRDM10 controls an extensive gene program and acts as a critical regulator of FLCN gene transcription in human cells. The germline variant PRDM10Cys677Tyr curtails cellular folliculin expression and underlies a distinguishable syndrome characterized by extensive lipomatosis, fibrofolliculomas and renal cell carcinomas.
Published: 2023

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

Author: Hollestelle, Antoinette, van der Baan, Frederieke H., Berchuck, Andrew, Johnatty, Sharon E., Aben, Katja K., Agnarsson, Bjarni A., Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Antoniou, Antonis C., Apicella, Carmel, Arndt, Volker, Arnold, Norbert, Arun, Banu K., Arver, Brita, Ashworth, Alan, Baglietto, Laura, Balleine, Rosemary, Bandera, Elisa V., Barrowdale, Daniel, Bean, Yukie T., Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Berger, Andreas, Berger, Raanan, Beuselinck, Benoit, Bisogna, Maria, Bjorge, Line, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Anders, Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brand, Judith S., Brauch, Hiltrud, Brenner, Hermann, Brinton, Louise, Brooks-Wilson, Angela, Bruinsma, Fiona, Brunet, Joan, Brüning, Thomas, Budzilowska, Agnieszka, Bunker, Clareann H., Burwinkel, Barbara, Butzow, Ralf, Buys, Saundra S., Caligo, Maria A., Campbell, Ian, Carter, Jonathan, Chang-Claude, Jenny, Chanock, Stephen J., Claes, Kathleen B.M., Collée, J. Margriet, Cook, Linda S., Couch, Fergus J., Cox, Angela, Cramer, Daniel, Cross, Simon S., Cunningham, Julie M., Cybulski, Cezary, Czene, Kamila, Damiola, Francesca, Dansonka-Mieszkowska, Agnieszka, Darabi, Hatef, de la Hoya, Miguel, deFazio, Anna, Dennis, Joseph, Devilee, Peter, Dicks, Ed M., Diez, Orland, Doherty, Jennifer A., Domchek, Susan M., Dorfling, Cecilia M., Dörk, Thilo, Silva, Isabel Dos Santos, du Bois, Andreas, Dumont, Martine, Dunning, Alison M., Duran, Mercedes, Easton, Douglas F., Eccles, Diana, Edwards, Robert P., Ehrencrona, Hans, Ejlertsen, Bent, Ekici, Arif B., Ellis, Steve D., Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Feliubadalo, Lidia, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Fontaine, Annette, Fortuzzi, Stefano, Fostira, Florentia, Fridley, Brooke L., Friebel, Tara, Friedman, Eitan, Friel, Grace, Frost, Debra, Garber, Judy, García-Closas, Montserrat, Gayther, Simon A., Gentry-Maharaj, Aleksandra, Gerdes, Anne-Marie, Giles, Graham G., Glasspool, Rosalind, Glendon, Gord, Godwin, Andrew K., Goodman, Marc T., Gore, Martin, Greene, Mark H., Grip, Mervi, Gronwald, Jacek, Gschwantler Kaulich, Daphne, Guénel, Pascal, Guzman, Starr R., Haeberle, Lothar, Haiman, Christopher A., Hall, Per, Halverson, Sandra L., Hamann, Ute, Hansen, Thomas V.O., Harter, Philipp, Hartikainen, Jaana M., Healey, Sue, Hein, Alexander, Heitz, Florian, Henderson, Brian E., Herzog, Josef, T Hildebrandt, Michelle A., Høgdall, Claus K., Høgdall, Estrid, Hogervorst, Frans B.L., Hopper, John L., Humphreys, Keith, Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, Janavicius, Ramunas, Jaworska, Katarzyna, Jensen, Allan, Jensen, Uffe Birk, Johnson, Nichola, Jukkola-Vuorinen, Arja, Kabisch, Maria, Karlan, Beth Y., Kataja, Vesa, Kauff, Noah, Kelemen, Linda E., Kerin, Michael J., Kiemeney, Lambertus A., Kjaer, Susanne K., Knight, Julia A., Knol-Bout, Jacoba P., Konstantopoulou, Irene, Kosma, Veli-Matti, Krakstad, Camilla, Kristensen, Vessela, Kuchenbaecker, Karoline B., Kupryjanczyk, Jolanta, Laitman, Yael, Lambrechts, Diether, Lambrechts, Sandrina, Larson, Melissa C., Lasa, Adriana, Laurent-Puig, Pierre, Lazaro, Conxi, Le, Nhu D., Le Marchand, Loic, Leminen, Arto, Lester, Jenny, Levine, Douglas A., Li, Jingmei, Liang, Dong, Lindblom, Annika, Lindor, Noralane, Lissowska, Jolanta, Long, Jirong, Lu, Karen H., Lubinski, Jan, Lundvall, Lene, Lurie, Galina, Mai, Phuong L., Mannermaa, Arto, Margolin, Sara, Mariette, Frederique, Marme, Frederik, Martens, John W.M., Massuger, Leon F.A.G., Maugard, Christine, Mazoyer, Sylvie, McGuffog, Lesley, McGuire, Valerie, McLean, Catriona, McNeish, Iain, Meindl, Alfons, Menegaux, Florence, Menéndez, Primitiva, Menkiszak, Janusz, Menon, Usha, Mensenkamp, Arjen R., Miller, Nicola, Milne, Roger L., Modugno, Francesmary, Montagna, Marco, Moysich, Kirsten B., Müller, Heiko, Mulligan, Anna Marie, Muranen, Taru A., Narod, Steven A., Nathanson, Katherine L., Ness, Roberta B., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Finn C., Nielsen, Sune F., Nordestgaard, Børge G., Nussbaum, Robert L., Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Olson, Sara H., Oosterwijk, Jan C., Orlow, Irene, Orr, Nick, Orsulic, Sandra, Osorio, Ana, Ottini, Laura, Paul, James, Pearce, Celeste L., Pedersen, Inge Sokilde, Peissel, Bernard, Pejovic, Tanja, Pelttari, Liisa M., Perkins, Jo, Permuth-Wey, Jenny, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Phillips, Kelly-Anne, Piedmonte, Marion, Pike, Malcolm C., Platte, Radka, Plisiecka-Halasa, Joanna, Poole, Elizabeth M., Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Ramus, Susan J., Rebbeck, Timothy R., Reed, Malcolm W.R., Rennert, Gad, Risch, Harvey A., Robson, Mark, Rodriguez, Gustavo C., Romero, Atocha, Rossing, Mary Anne, Rothstein, Joseph H., Rudolph, Anja, Runnebaum, Ingo, Salani, Ritu, Salvesen, Helga B., Sawyer, Elinor J., Schildkraut, Joellen M., Schmidt, Marjanka K., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schrauder, Michael G., Schumacher, Fredrick, Schwaab, Ira, Scuvera, Giulietta, Sellers, Thomas A., Severi, Gianluca, Seynaeve, Caroline M., Shah, Mitul, Shrubsole, Martha, Siddiqui, Nadeem, Sieh, Weiva, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Smeets, Dominiek, Sohn, Christof, Soller, Maria, Song, Honglin, Soucy, Penny, Southey, Melissa C., Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sucheston, Lara, Swerdlow, Anthony, Tangen, Ingvild L., Tea, Muy-Kheng, Teixeira, Manuel R., Terry, Kathryn L., Terry, Mary Beth, Thomassen, Mads, Thompson, Pamela J., Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda Ewart, Tollenaar, Rob A.E.M., Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Tsimiklis, Helen, Tung, Nadine, Tworoger, Shelley S., Tyrer, Jonathan P., Vachon, Celine M., Van 't Veer, Laura J., van Altena, Anne M., Van Asperen, C.J., van den Berg, David, van den Ouweland, Ans M.W., van Doorn, Helena C., Van Nieuwenhuysen, Els, van Rensburg, Elizabeth J., Vergote, Ignace, Verhoef, Senno, Vierkant, Robert A., Vijai, Joseph, Vitonis, Allison F., von Wachenfeldt, Anna, Walsh, Christine, Wang, Qin, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weischer, Maren, Weitzel, Jeffrey N., Weltens, Caroline, Wentzensen, Nicolas, Whittemore, Alice S., Wilkens, Lynne R., Winqvist, Robert, Wu, Anna H., Wu, Xifeng, Yang, Hannah P., Zaffaroni, Daniela, Pilar Zamora, M., Zheng, Wei, Ziogas, Argyrios, Chenevix-Trench, Georgia, Pharoah, Paul D.P., Rookus, Matti A., Hooning, Maartje J., and Goode, Ellen L.
Published: 2016
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23. Inverse birth cohort effects in ovarian cancer: Increasing risk in BRCA1/2 mutation carriers and decreasing risk in the general population

Author: Vos, Janet R., Mourits, Marian J., Teixeira, Natalia, Jansen, Liesbeth, Oosterwijk, Jan C., and de Bock, Geertruida H.
Published: 2016
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24. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

Author: Hamdi, Yosr, Soucy, Penny, Kuchenbaeker, Karoline B., Pastinen, Tomi, Droit, Arnaud, Lemaçon, Audrey, Adlard, Julian, Aittomäki, Kristiina, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Bane, Anita, Barjhoux, Laure, Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Blok, Marinus J., Bobolis, Kristie, Bonadona, Valérie, Bonanni, Bernardo, Bradbury, Angela R., Brewer, Carole, Buecher, Bruno, Buys, Saundra S., Caligo, Maria A., Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Daly, Mary B., Damiola, Francesca, Davidson, Rosemarie, De la Hoya, Miguel, De Leeneer, Kim, Diez, Orland, Ding, Yuan Chun, Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., Eccles, Diana, Eeles, Ros, Einbeigi, Zakaria, Ejlertsen, Bent, Engel, Christoph, Gareth Evans, D., Feliubadalo, Lidia, Foretova, Lenka, Fostira, Florentia, Foulkes, William D., Fountzilas, George, Friedman, Eitan, Frost, Debra, Ganschow, Pamela, Ganz, Patricia A., Garber, Judy, Gayther, Simon A., Gerdes, Anne-Marie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Hays, John L., Hogervorst, Frans B. L., Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Joseph, Vijai, Just, Walter, Kaczmarek, Katarzyna, Karlan, Beth Y., Kets, Carolien M., Kirk, Judy, Kriege, Mieke, Laitman, Yael, Laurent, Maïté, Lazaro, Conxi, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loman, Niklas, Loud, Jennifer T., Manoukian, Siranoush, Mariani, Milena, Mazoyer, Sylvie, McGuffog, Lesley, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Miller, Austin, Montagna, Marco, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nussbaum, Robert L., Olah, Edith, Olopade, Olufunmilayo I., Ong, Kai-ren, Oosterwijk, Jan C., Osorio, Ana, Papi, Laura, Park, Sue Kyung, Pedersen, Inge Sokilde, Peissel, Bernard, Segura, Pedro Perez, Peterlongo, Paolo, Phelan, Catherine M., Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C., Rookus, Matti A., Schmutzler, Rita Katharina, Sevenet, Nicolas, Shah, Payal D., Singer, Christian F., Slavin, Thomas P., Snape, Katie, Sokolowska, Johanna, Sønderstrup, Ida Marie Heeholm, Southey, Melissa, Spurdle, Amanda B., Stadler, Zsofia, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Sutter, Christian, Tan, Yen, Tea, Muy-Kheng, Teixeira, Manuel R., Teulé, Alex, Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tihomirova, Laima, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tung, Nadine, van den Ouweland, Ans M. W., van der Luijt, Rob B., van Engelen, Klaartje, van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wappenschmidt, Barbara, Wijnen, Juul T., Rebbeck, Timothy, Chenevix-Trench, Georgia, Offit, Kenneth, Couch, Fergus J., Nord, Silje, Easton, Douglas F., Antoniou, Antonis C., Simard, Jacques, EMBRACE, GEMO Study Collaborators, HEBON, and KConFab Investigators
Published: 2017
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25. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Author: Lakeman, Inge M. M., Van Den Broek, Alexandra J., Vos, Juliën A. M., Barnes, Daniel R., Adlard, Julian, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Balmaña, Judith, Barrowdale, Daniel, Giraud, Sophie, Golmard, Lisa, Hake, Christopher R., Houdayer, Claude, Risch, Harvey A., Lasset, Christine, Laurent, Maïté, Spurdle, Amanda B., Hooning, Maartje J., Hopper, John L., Kets, Carolien M., Leroux, Dominique, Longy, Michel, Mari, Véronique, Mazoyer, Sylvie, Mebirouk, Noura, Mortemousque, Isabelle, Blok, Marinus J., Prieur, Fabienne, Hamann, Ute, Pujol, Pascal, Konstantopoulou, Irene, Heemskerk Gerritsen, Bernadette A. M., Isaacs, Claudine, Saule, Claire, Piedmonte, Marion, Schuster, Helene, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Gómez Garcia, Encarna B., Venat Bouvet, Laurence, Claes, Kathleen B. M., Ahmed, Munaza, Teixeira, Manuel R., Barwell, Julian, Brady, Angela, Izatt, Louise, Hogervorst, Frans B. L., Brennan, Paul, Harrington, Patricia A., Henderson, Alex, Hodgson, Shirley, Kwong, Ava, Borg, Ake, Kennedy, M. John, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Collée, J. Margriet, Jakubowska, Anna, Couch, Fergus J., Hahnen, Eric, Daly, Mary B., Dennis, Joe, Teo, Soo Hwang, Jensen, Uffe Birk, Rantala, Johanna, Dhawan, Mallika, Benitez, Javier, Domchek, Susan M., Eeles, Ros, Engel, Christoph, Legrand, Clémentine, Evans, D. Gareth, James, Paul A., Feliubadaló i Elorza, Maria Lídia, Teulé-Vega, Àlex, Foretova, Lenka, Castera, Laurent, Friedman, Eitan, Frost, Debra, Rennert, Gad, Ganz, Patricia A., Leslie, Goska, Garber, Judy, Hulick, Peter J., Imyanitov, Evgeny N., Glendon, Gord, Thomassen, Mads, Janavicius, Ramunas, Mulligan, Anna Marie, Hollestelle, Antoinette, Jager, Agnes, Koppert, Linetta B., Cook, Jackie, Koudijs, Marco, Kriege, Mieke, Meijers Heijboer, Hanne E. J., Schmutzler, Rita K., Mensenkamp, Arjen R., Dunning, Alison M., Mooij, Thea M., Oosterwijk, Jan C., Caux Moncoutier, Virginie, Singer, Christian F., Berthet, Pascaline, Caldés, Trinidad, Van den Ouweland, Ans M. W., Van der Baan, Frederieke H., Van der Hout, Annemieke H., Van der Kolk, Lizet E., Van der Luijt, Rob B., Thull, Darcy L., Van Deurzen, Carolien H. M., Sharma, Priyanka, Van Doorn, Helena C., Bignon, Yves Jean, Colas, Chrystelle, Van Engelen, Klaartje, Brewer, Carole, Van Hest, Liselotte P., Van Os, Theo A. M., Caligo, Maria A., Verhoef, Senno, Tischkowitz, Marc, Vogel, Maartje J., Wijnen, Juul T., Lalloo, Fiona, Beesley, Jonathan, Fox, Stephen, Collonge Rame, Marie Agnès, Simard, Jacques, Holland, Helene, Jiao, Yue, John, Esther M., Joseph, Vijai, Gerdes, Anne Marie, Karlan, Beth Y., Lesueur, Fabienne, Loud, Jennifer T., Lubiński, Jan, Manoukian, Siranoush, Mcguffog, Lesley, Miller, Austin, Coupier, Isabelle, Gomes, Denise Molina, Barouk Simonet, Emmanuelle, Montagna, Marco, Miller, Clare, Elan, Camille, Davidson, Rosemarie, Mouret Fourme, Emmanuelle, Gayther, Simon A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Pauw, Antoine de, Olah, Edith, Morrison, Patrick J., Olopade, Olufunmilayo I., Van Asperen, Christi J., Park, Sue K., Parsons, Michael T., Donaldson, Alan, Belotti, Muriel, Peterlongo, Paolo, Stadler, Zsofia, Stoppa Lyonnet, Dominique, Sutter, Christian, Ong, Kai Ren, Delnatte, Capucine, Tan, Yen Yen, Toland, Amanda E., Tung, Nadine, Van Rensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Devilee, Peter, Eason, Jacqueline, Chung, Wendy K., Bernstein, Jonine L., Offit, Kenneth, Aalfs, Cora M., Hanson, Helen, Godwin, Andrew K., Easton, Douglas F., Bonadona, Valérie, Rookus, Matti A., Chenevix-Trench, Georgia, Antoniou, Antonis C., O’shaughnessy Kirwan, Aoife, Robson, Mark, Eccles, Diana M., Schmidt, Marjanka K., Adank, Muriel A., Gemo Study Collaborators, Phillips, Kelly Anne, Embrace Collaborators, Ocgn Investigators, Goldgar, David E., Hebon Investigators, Perkins, Jo, Kconfab Investigators, Bressac de Paillerets, Brigitte, Buecher, Bruno, Caputo, Sandrine, Ausems, Margreet G. E. M., Gregory, Helen, Caron, Olivier, Faivre, Laurence, Fert Ferrer, Sandra, Gauthier Villars, Marion, Radice, Paolo, Gesta, Paul, Clinical Genetics, Medical Oncology, Surgery, Pathology, Gynecological Oncology, Schmidt, Marjanka K. [0000-0002-2228-429X], Apollo - University of Cambridge Repository, Targeted Gynaecologic Oncology (TARGON), Damage and Repair in Cancer Development and Cancer Treatment (DARE), Schmidt, Marjanka K [0000-0002-2228-429X], HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Institut Català de la Salut, [Lakeman IMM] Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. [van den Broek AJ, Vos JAM] Division of Molecular Pathology, The Netherlands Cancer Institute–Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands. [Barnes DR] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [Adlard J] Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK. [Andrulis IL] Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada. Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. [Balmaña J] Hereditary cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Pediatric surgery, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, CCA - Cancer biology and immunology, Epidemiology and Data Science, Human Genetics, ARD - Amsterdam Reproduction and Development, APH - Personalized Medicine, APH - Quality of Care, Chapel Allerton Hospital, University of Leeds, Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto-Cancer Care Ontario, Reykjavík University, Division of Oncology, Department of Gynaecology and Obstetrics, University Hospital Schleswig–Holstein, The University of Texas M.D. Anderson Cancer Center [Houston], Unitat d'Alt Risc i Prevenció del Càncer, Vall d'Hebron University Hospital [Barcelona], University of Cambridge [UK] (CAM), Group of Human Genetics, Human Cancer Genetics Programme, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Department of Oncology, Clinical Sciences, Lund University [Lund]-Skåne University Hospital, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos [Madrid, Spain] (IdISSC), Section of Genetic Oncology, University of Pisa - Università di Pisa, Columbia University [New York], Ghent University Hospital, Department of Clinical Genetics, Erasmus University Medical Center [Rotterdam] (Erasmus MC)-Family Cancer Clinic, Department of Laboratory Medicine and Pathology, Mayo Clinic, Division of Population Science, Fox Chase Cancer Center, Institut Curie [Paris], Mines Paris - PSL (École nationale supérieure des mines de Paris), Université Paris sciences et lettres (PSL), CHU Grenoble, CHI Poissy-Saint-Germain, Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud]), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA KG Polikliniek (9), and Klinische Genetica
Subjects: 0301 basic medicine, Percentile, Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease [DISEASES], Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], SUSCEPTIBILITY ALLELES, Diàtesi, FAMILIES, Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14], MESH: BRCA2 Protein, Breast cancer, 0302 clinical medicine, MESH: Risk Factors, Risk Factors, Other subheadings::/diagnosis [Other subheadings], Medicine and Health Sciences, Medicine, Mama - Càncer - Diagnòstic, Family history, skin and connective tissue diseases, Genetics (clinical), MESH: Heterozygote, neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES], Factors de risc en les malalties, BRCA1 Protein, Hazard ratio, MESH: Genetic Predisposition to Disease, 1184 Genetics, developmental biology, physiology, article, OVARIAN, BRCA2 Protein/genetics, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], 3. Good health, 030220 oncology & carcinogenesis, Female, Malalties congènites, Adult, Heterozygote, medicine.medical_specialty, MESH: Mutation, Risk factors in diseases, Otros calificadores::/diagnóstico [Otros calificadores], Breast Neoplasms, Context (language use), MUTATION CARRIERS, Càncer de mama, afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::susceptibilidad a enfermedades::predisposición genética a la enfermedad [ENFERMEDADES], 03 medical and health sciences, SDG 3 - Good Health and Well-being, Internal medicine, Humans, Genetic Predisposition to Disease, MESH: BRCA1 Protein, Retrospective Studies, BRCA2 Protein, MESH: Humans, business.industry, Proportional hazards model, CONSORTIUM, Breast Neoplasms/diagnosis, MESH: Adult, MESH: Retrospective Studies, Retrospective cohort study, medicine.disease, Confidence interval, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, BRCA1 Protein/genetics, 3111 Biomedicine, business, MESH: Female, MESH: Breast Neoplasms
Abstract: Predicció de risc de càncer de mama; Dones europees; Variant patògena heterozigota Predicción del riesgo de cáncer de mama; Mujeres europeas; Variante patógena heterocigota Breast cancer risk prediction; European women; Heterozygous pathogenic variant Purpose To evaluate the association between a previously published 313 variant–based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. Methods We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS313 and CBC risk. Results For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS313 showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06–1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS313, HR = 1.15, 95% CI (1.07–1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC
Published: 2021

26. PRDM10 directs FLCN expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis

Author: van de Beek, Irma, primary, Glykofridis, Iris E, additional, Oosterwijk, Jan C, additional, van den Akker, Peter C, additional, Diercks, Gilles F H, additional, Bolling, Maria C, additional, Waisfisz, Quinten, additional, Mensenkamp, Arjen R, additional, Balk, Jesper A, additional, Zwart, Rob, additional, Postma, Alex V, additional, Meijers-Heijboer, Hanne E J, additional, van Moorselaar, R Jeroen A, additional, Wolthuis, Rob M F, additional, and Houweling, Arjan C, additional
Published: 2022
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27. Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study

Author: Bancroft, Elizabeth K., Page, Elizabeth C., Castro, Elena, Lilja, Hans, Vickers, Andrew, Sjoberg, Daniel, Assel, Melissa, Foster, Christopher S., Mitchell, Gillian, Drew, Kate, Mæhle, Lovise, Axcrona, Karol, Evans, D. Gareth, Bulman, Barbara, Eccles, Diana, McBride, Donna, van Asperen, Christi, Vasen, Hans, Kiemeney, Lambertus A., Ringelberg, Janneke, Cybulski, Cezary, Wokolorczyk, Dominika, Selkirk, Christina, Hulick, Peter J., Bojesen, Anders, Skytte, Anne-Bine, Lam, Jimmy, Taylor, Louise, Oldenburg, Rogier, Cremers, Ruben, Verhaegh, Gerald, van Zelst-Stams, Wendy A., Oosterwijk, Jan C., Blanco, Ignacio, Salinas, Monica, Cook, Jackie, Rosario, Derek J., Buys, Saundra, Conner, Tom, Ausems, Margreet G., Ong, Kai-ren, Hoffman, Jonathan, Domchek, Susan, Powers, Jacquelyn, Teixeira, Manuel R., Maia, Sofia, Foulkes, William D., Taherian, Nassim, Ruijs, Marielle, den Enden, Apollonia T. Helderman-van, Izatt, Louise, Davidson, Rosemarie, Adank, Muriel A., Walker, Lisa, Schmutzler, Rita, Tucker, Kathy, Kirk, Judy, Hodgson, Shirley, Harris, Marion, Douglas, Fiona, Lindeman, Geoffrey J., Zgajnar, Janez, Tischkowitz, Marc, Clowes, Virginia E., Susman, Rachel, Ramón y Cajal, Teresa, Patcher, Nicholas, Gadea, Neus, Spigelman, Allan, van Os, Theo, Liljegren, Annelie, Side, Lucy, Brewer, Carole, Brady, Angela F., Donaldson, Alan, Stefansdottir, Vigdis, Friedman, Eitan, Chen-Shtoyerman, Rakefet, Amor, David J., Copakova, Lucia, Barwell, Julian, Giri, Veda N., Murthy, Vedang, Nicolai, Nicola, Teo, Soo-Hwang, Greenhalgh, Lynn, Strom, Sara, Henderson, Alex, McGrath, John, Gallagher, David, Aaronson, Neil, Ardern-Jones, Audrey, Bangma, Chris, Dearnaley, David, Costello, Philandra, Eyfjord, Jorunn, Rothwell, Jeanette, Falconer, Alison, Gronberg, Henrik, Hamdy, Freddie C., Johannsson, Oskar, Khoo, Vincent, Kote-Jarai, Zsofia, Lubinski, Jan, Axcrona, Ulrika, Melia, Jane, McKinley, Joanne, Mitra, Anita V., Moynihan, Clare, Rennert, Gad, Suri, Mohnish, Wilson, Penny, Killick, Emma, Moss, Sue, and Eeles, Rosalind A.
Published: 2014
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28. The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

Author: Moghadasi, Setareh, Meeks, Huong D, Vreeswijk, Maaike PG, Janssen, Linda AM, Borg, Åke, Ehrencrona, Hans, Paulsson-Karlsson, Ylva, Wappenschmidt, Barbara, Engel, Christoph, Gehrig, Andrea, Arnold, Norbert, Hansen, Thomas Van Overeem, Thomassen, Mads, Jensen, Uffe Birk, Kruse, Torben A, Ejlertsen, Bent, Gerdes, Anne-Marie, Pedersen, Inge Søkilde, Caputo, Sandrine M, Couch, Fergus, Hallberg, Emily J, van den Ouweland, Ans MW, Collée, Margriet J, Teugels, Erik, Adank, Muriel A, van der Luijt, Rob B, Mensenkamp, Arjen R, Oosterwijk, Jan C, Blok, Marinus J, Janin, Nicolas, Claes, Kathleen BM, Tucker, Kathy, Viassolo, Valeria, Toland, Amanda Ewart, Eccles, Diana E, Devilee, Peter, Van Asperen, Christie J, Spurdle, Amanda B, Goldgar, David E, and García, Encarna Gómez
Published: 2018
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29. CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism

Author: van der Tuin, Karin, Tops, Carli M J, Adank, Muriel A, Cobben, Jan-Maarten, Hamdy, Neveen A T, Jongmans, Marjolijn C, Menko, Fred H, van Nesselrooij, Bernadette P M, Netea-Maier, Romana T, Oosterwijk, Jan C, Valk, Gerlof D, Wolffenbuttel, Bruce H R, Hes, Frederik J, and Morreau, Hans
Published: 2017
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30. PRDM10 directs FLCN expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis.

Author: van de Beek, Irma, Glykofridis, Iris E, Oosterwijk, Jan C, Akker, Peter C van den, Diercks, Gilles F H, Bolling, Maria C, Waisfisz, Quinten, Mensenkamp, Arjen R, Balk, Jesper A, Zwart, Rob, Postma, Alex V, Meijers-Heijboer, Hanne E J, Moorselaar, R Jeroen A van, Wolthuis, Rob M F, and Houweling, Arjan C
Published: 2023
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31. Additional file 1 of Breast cancer risks associated with missense variants in breast cancer susceptibility genes

Author: Dorling, Leila, Carvalho, Sara, Allen, Jamie, Parsons, Michael T., Fortuno, Cristina, González-Neira, Anna, Heijl, Stephan M., Adank, Muriel A., Ahearn, Thomas U., Andrulis, Irene L., Auvinen, Päivi, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Bermisheva, Marina, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bremer, Michael, Briceno, Ignacio, Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Collée, J. Margriet, Czene, Kamila, Dennis, Joe, Dörk, Thilo, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Giles, Graham G., Glendon, Gord, Guénel, Pascal, Gündert, Melanie, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Harkness, Elaine F., Hartman, Mikael, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Jung, Audrey, Khusnutdinova, Elza, Kim, Sung-Won, Ko, Yon-Dschun, Kristensen, Vessela N., Lakeman, Inge M. M., Li, Jingmei, Lindblom, Annika, Loizidou, Maria A., Lophatananon, Artitaya, Lubiński, Jan, Luccarini, Craig, Madsen, Michael J., Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L., Mohd Taib, Nur Aishah, Muir, Kenneth, Nevanlinna, Heli, Newman, William G., Oosterwijk, Jan C., Park, Sue K., Peterlongo, Paolo, Radice, Paolo, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Shah, Mitul, Sim, Xueling, Southey, Melissa C., Surowy, Harald, Suvanto, Maija, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, van Asperen, Christi J., Waltes, Regina, Wang, Qin, Yang, Xiaohong R., Pharoah, Paul D. P., Schmidt, Marjanka K., Benitez, Javier, Vroling, Bas, Dunning, Alison M., Teo, Soo Hwang, Kvist, Anders, de la Hoya, Miguel, Devilee, Peter, Spurdle, Amanda B., Vreeswijk, Maaike P. G., and Easton, Douglas F.
Subjects: Data_FILES
Abstract: Additional file 1.
Published: 2022
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32. Survival benefit in women with BRCA1 mutation or familial risk in the MRI screening study (MRISC)

Author: Saadatmand, Sepideh, Obdeijn, Inge-Marie, Rutgers, Emiel J., Oosterwijk, Jan C., Tollenaar, Rob A., Woldringh, Gwendolyn H., Bergers, Elisabeth, Verhoef, Cornelis, Heijnsdijk, Eveline A., Hooning, Maartje J., de Koning, Harry J., and Tilanus-Linthorst, Madeleine M.
Published: 2015
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33. Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer

Author: Rebbeck, Timothy R., Mitra, Nandita, Wan, Fei, Sinilnikova, Olga M., Healey, Sue, McGuffog, Lesley, Mazoyer, Sylvie, Chenevix-Trench, Georgia, Easton, Douglas F., Antoniou, Antonis C., Nathanson, Katherine L., Laitman, Yael, Kushnir, Anya, Paluch-Shimon, Shani, Berger, Raanan, Zidan, Jamal, Friedman, Eitan, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Einbeigi, Zakaria, Loman, Niklas, Harbst, Katja, Rantala, Johanna, Melin, Beatrice, Huo, Dezheng, Olopade, Olufunmilayo I., Seldon, Joyce, Ganz, Patricia A., Nussbaum, Robert L., Chan, Salina B., Odunsi, Kunle, Gayther, Simon A., Domchek, Susan M., Arun, Banu K., Lu, Karen H., Mitchell, Gillian, Karlan, Beth Y., Walsh, Christine, Lester, Jenny, Godwin, Andrew K., Pathak, Harsh, Ross, Eric, Daly, Mary B., Whittemore, Alice S., John, Esther M., Miron, Alexander, Terry, Mary Beth, Chung, Wendy K., Goldgar, David E., Buys, Saundra S., Janavičius, Ramūnas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Steele, Linda, Neuhausen, Susan L., Ding, Yuan Chun, Ejlertsen, Bent, Gerdes, Anne-Marie, Hansen, Thomas v. O., Ramón y Cajal, Teresa, Osorio, Ana, Benitez, Javier, Godino, Javier, Tejada, Maria-Isabel, Duran, Mercedes, Weitzel, Jeffrey N., Bobolis, Kristie A, Sand, Sharon R., Fontaine, Annette, Savarese, Antonella, Pasini, Barbara, Peissel, Bernard, Bonanni, Bernardo, Zaffaroni, Daniela, Vignolo-Lutati, Francesca, Scuvera, Giulietta, Giannini, Giuseppe, Bernard, Loris, Genuardi, Maurizio, Radice, Paolo, Dolcetti, Riccardo, Manoukian, Siranoush, Pensotti, Valeria, Gismondi, Viviana, Yannoukakos, Drakoulis, Fostira, Florentia, Garber, Judy, Torres, Diana, Rashid, Muhammad Usman, Hamann, Ute, Peock, Susan, Frost, Debra, Platte, Radka, Evans, D. Gareth, Eeles, Rosalind, Davidson, Rosemarie, Eccles, Diana, Cole, Trevor, Cook, Jackie, Brewer, Carole, Hodgson, Shirley, Morrison, Patrick J., Walker, Lisa, Porteous, Mary E., Kennedy, M. John, Izatt, Louise, Adlard, Julian, Donaldson, Alan, Ellis, Steve, Sharma, Priyanka, Schmutzler, Rita Katharina, Wappenschmidt, Barbara, Becker, Alexandra, Rhiem, Kerstin, Hahnen, Eric, Engel, Christoph, Meindl, Alfons, Engert, Stefanie, Ditsch, Nina, Arnold, Norbert, Plendl, Hans Jörg, Mundhenke, Christoph, Niederacher, Dieter, Fleisch, Markus, Sutter, Christian, Bartram, C. R., Dikow, Nicola, Wang-Gohrke, Shan, Gadzicki, Dorothea, Steinemann, Doris, Kast, Karin, Beer, Marit, Varon-Mateeva, Raymonda, Gehrig, Andrea, Weber, Bernhard H., Stoppa-Lyonnet, Dominique, Sinilnikova, Olga M., Mazoyer, Sylvie, Houdayer, Claude, Belotti, Muriel, Gauthier-Villars, Marion, Damiola, Francesca, Boutry-Kryza, Nadia, Lasset, Christine, Sobol, Hagay, Peyrat, Jean-Philippe, Muller, Danièle, Fricker, Jean-Pierre, Collonge-Rame, Marie-Agnès, Mortemousque, Isabelle, Nogues, Catherine, Rouleau, Etienne, Isaacs, Claudine, De Paepe, Anne, Poppe, Bruce, Claes, Kathleen, De Leeneer, Kim, Piedmonte, Marion, Rodriguez, Gustavo, Wakely, Katie, Boggess, John, Blank, Stephanie V., Basil, Jack, Azodi, Masoud, Phillips, Kelly-Anne, Caldes, Trinidad, de la Hoya, Miguel, Romero, Atocha, Nevanlinna, Heli, Aittomäki, Kristiina, van der Hout, Annemarie H., Hogervorst, Frans B. L., Verhoef, Senno, Collée, J. Margriet, Seynaeve, Caroline, Oosterwijk, Jan C., Gille, Johannes J. P., Wijnen, Juul T., Garcia, Encarna B. Gómez, Kets, Carolien M., Ausems, Margreet G. E. M., Aalfs, Cora M., Devilee, Peter, Mensenkamp, Arjen R., Kwong, Ava, Olah, Edith, Papp, Janos, Diez, Orland, Lazaro, Conxi, Darder, Esther, Blanco, Ignacio, Salinas, Mónica, Jakubowska, Anna, Lubinski, Jan, Gronwald, Jacek, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Sukiennicki, Grzegorz, Huzarski, Tomasz, Byrski, Tomasz, Cybulski, Cezary, Toloczko-Grabarek, Aleksandra, Złowocka-Perłowska, Elżbieta, Menkiszak, Janusz, Arason, Adalgeir, Barkardottir, Rosa B., Simard, Jacques, Laframboise, Rachel, Montagna, Marco, Agata, Simona, Alducci, Elisa, Peixoto, Ana, Teixeira, Manuel R., Spurdle, Amanda B., Lee, Min Hyuk, Park, Sue K., Kim, Sung-Won, Friebel, Tara M., Couch, Fergus J., Lindor, Noralane M., Pankratz, Vernon S., Guidugli, Lucia, Wang, Xianshu, Tischkowitz, Marc, Foretova, Lenka, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Rau-Murthy, Rohini, Kauff, Noah, Fink-Retter, Anneliese, Singer, Christian F., Rappaport, Christine, Gschwantler-Kaulich, Daphne, Pfeiler, Georg, Tea, Muy-Kheng, Berger, Andreas, Greene, Mark H., Mai, Phuong L., Imyanitov, Evgeny N., Toland, Amanda Ewart, Senter, Leigha, Bojesen, Anders, Pedersen, Inge Sokilde, Skytte, Anne-Bine, Sunde, Lone, Thomassen, Mads, Moeller, Sanne Traasdahl, Kruse, Torben A., Jensen, Uffe Birk, Caligo, Maria Adelaide, Aretini, Paolo, Teo, Soo-Hwang, Selkirk, Christina G., Hulick, Peter J., and Andrulis, Irene
Published: 2015
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34. Relevance and efficacy of breast cancer screening in BRCA1 and BRCA2 mutation carriers above 60 years: A national cohort study

Author: Saadatmand, Sepideh, Vos, Janet R., Hooning, Maartje J., Oosterwijk, Jan C., Koppert, Linetta B., de Bock, Geertruida H., Ausems, Margreet G., van Asperen, Christi J., Aalfs, Cora M., Gómez Garcia, Encarna B., Meijers-Heijboer, Hanne, Hoogerbrugge, Nicoline, Piek, Marianne, Seynaeve, Caroline, Verhoef, Cornelis, Rookus, Matti, and Tilanus-Linthorst, Madeleine M.
Published: 2014
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35. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Author: Coignard, Juliette, Lush, Michael, Beesley, Jonathan, O’Mara, Tracy A., Dennis, Joe, Tyrer, Jonathan P., Barnes, Daniel R., McGuffog, Lesley, Leslie, Goska, Bolla, Manjeet K., Adank, Muriel A., Agata, Simona, Ahearn, Thomas, Aittomäki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Arun, Banu K., Augustinsson, Annelie, Azzollini, Jacopo, Barrowdale, Daniel, Baynes, Caroline, Becher, Heko, Bermisheva, Marina, Bernstein, Leslie, Białkowska, Katarzyna, Blomqvist, Carl, Bojesen, Stig E., Bonanni, Bernardo, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldés, Trinidad, Caligo, Maria A., Campa, Daniele, Carter, Brian D., Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Bertrand, Ophélie, Caputo, Sandrine, Dupré, Anaïs, le Mentec, Marine, Belotti, Muriel, Birot, Anne-Marie, Buecher, Bruno, Fourme, Emmanuelle, Gauthier-Villars, Marion, Golmard, Lisa, Houdayer, Claude, Moncoutier, Virginie, de Pauw, Antoine, Saule, Claire, Sinilnikova, Olga, Mazoyer, Sylvie, Damiola, Francesca, Barjhoux, Laure, Verny-Pierre, Carole, Léone, M. lanie, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Caron, Olivier, Guillaud-Bataille, Marine, Bressac-de-Paillerets, Brigitte, Bignon, Yves- Jean, Uhrhammer, Nancy, Lasset, Christine, Bonadona, Valérie, Berthet, Pascaline, Vaur, Dominique, Castera, Laurent, Noguchi, Tetsuro, Popovici, Cornel, Sobol, Hagay, Bourdon, Violaine, Remenieras, Audrey, Noguès, Catherine, Coupier, Isabelle, Pujol, Pascal, Dumont, Aurélie, Révillion, Françoise, Adenis, Claude, Muller, Danièle, Barouk-Simonet, Emmanuelle, Bonnet, Françoise, Bubien, Virginie, Sevenet, Nicolas, Longy, Michel, Toulas, Christine, Guimbaud, Rosine, Gladieff, Laurence, Feillel, Viviane, Leroux, Dominique, Dreyfus, H. lène, Rebischung, Christine, Peysselon, Magalie, Coron, Fanny, Faivre, Laurence, Baurand, Amandine, Jacquot, Caroline, Bertolone, Geoffrey, Lizard, Sarab, Prieur, Fabienne, Lebrun, Marine, Kientz, Caroline, Ferrer, Sandra Fert, Mari, V. ronique, Vénat-Bouvet, Laurence, Delnatte, Capucine, Bézieau, Stéphane, Mortemousque, Isabelle, Coulet, Florence, Colas, Chrystelle, Soubrier, Florent, Warcoin, Mathilde, Sokolowska, Johanna, Bronner, Myriam, Collonge-Rame, Marie-Agnès, Damette, Alexandre, Gesta, Paul, Lallaoui, Hakima, Chiesa, Jean, Molina-Gomes, Denise, Ingster, Olivier, Gregory, Helen, Miedzybrodzka, Zosia, Morrison, Patrick J., Ong, Kai-ren, Donaldson, Alan, Rogers, Mark T., Kennedy, M. John, Porteous, Mary E., Brewer, Carole, Davidson, Rosemarie, Izatt, Louise, Brady, Angela, Barwell, Julian, Adlard, Julian, Foo, Claire, Lalloo, Fiona, Side, Lucy E., Eason, Jacqueline, Henderson, Alex, Walker, Lisa, Eeles, Rosalind A., Cook, Jackie, Snape, Katie, Eccles, Diana, Murray, Alex, McCann, Emma, Collée, J. Margriet, Conroy, Don M., Czene, Kamila, Daly, Mary B., Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dörk, Thilo, dos-Santos-Silva, Isabel, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Evans, D. 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[0000-0003-2444-3247], Apollo - University of Cambridge Repository, Becher, Heiko [0000-0002-8808-6667], RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, German Cancer Research Center (DKFZ), National Health and Medical Research Council of Australia, United States Department of Health & Human Services National Institutes of Health (NIH) - USA, National Institute for Health Research (NIHR), Institut National du Cancer (INCA) France, Ligue nationale contre le cancer, Cancer Research UK, European Commision, Canadian Institutes of Health Research (CIHR), Cancer Council New South Wales, Accion Estrategica de Salud del Instituto de Salud Carlos III FIS Intrasalud, Xunta de Galicia, Fomento de la Investigacion Clinica Independiente, Ministerio de Sanidad, Servicios Sociales e Igualdad, Spain, Fondo de Investigacion Sanitario, California Breast Cancer Research Fund, Federal Ministry of Education & Research (BMBF), Netherlands Government, Russian Foundation for Basic Research (RFBR), O'Mara, Tracy A [0000-0002-5436-3232], Tyrer, Jonathan P [0000-0003-3724-4757], Barnes, Daniel R [0000-0002-3781-7570], Andrulis, Irene L [0000-0002-4226-6435], Bojesen, Stig E [0000-0002-4061-4133], Chanock, Stephen J [0000-0002-2324-3393], Chung, Wendy K [0000-0003-3438-5685], Claes, Kathleen BM [0000-0003-0841-7372], Collée, J Margriet [0000-0002-9272-9346], Dunning, Alison M [0000-0001-6651-7166], Eliassen, A Heather [0000-0002-3961-6609], García-Sáenz, José A [0000-0001-6880-0301], Gayther, Simon A [0000-0001-7937-5443], Giles, Graham G [0000-0003-4946-9099], Greene, Mark H [0000-0003-1852-9239], Hart, Steven N [0000-0001-7714-2734], Hulick, Peter J [0000-0001-8397-4078], James, Paul A [0000-0002-4361-4657], Jones, Michael E [0000-0001-7479-3451], Kurian, Allison W [0000-0002-6175-9470], Martens, John WM [0000-0002-3428-3366], Milne, Roger L [0000-0001-5764-7268], Nathanson, Katherine L [0000-0002-6740-0901], Olopade, Olufunmilayo I [0000-0002-9936-1599], Olson, Janet E [0000-0003-4944-7789], Parsons, Michael T [0000-0003-3242-8477], Pharoah, Paul DP [0000-0001-8494-732X], Sandler, Dale P [0000-0002-6776-0018], Schmidt, Marjanka K [0000-0002-2228-429X], Toland, Amanda E [0000-0002-0271-1792], Vachon, Celine M [0000-0002-1962-9322], Weitzel, Jeffrey N [0000-0001-6714-092X], Zorn, Kristin K [0000-0003-2143-8979], Park, Sue K [0000-0001-5002-9707], Easton, Douglas F [0000-0003-2444-3247], HUS Comprehensive Cancer Center, Department of Oncology, Clinicum, INDIVIDRUG - Individualized Drug Therapy, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Institut Català de la Salut, [Coignard J] Genetic Epidemiology of Cancer team, Inserm, U900, Paris, France. Institut Curie Paris, Paris, France. Mines ParisTech Fontainebleau, Paris, France. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. PSL University Paris, Paris, France. Paris Sud University, Orsay, France. [Lush M, Dennis J] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [Beesley J, O'Mara TA] Department of Genetics and Computational Biology QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. [Tyrer JP] Centre for Cancer Genetic Epidemiology, Department of Oncology University of Cambridge, Cambridge, UK. [Diez O] Oncogenetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Lopez-Fernández A] High Risk and Cancer Prevention Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Basic and Translational Research and Imaging Methodology Development in Groningen (BRIDGE), Life Course Epidemiology (LCE), Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Human Genetics, ARD - Amsterdam Reproduction and Development, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, CCA - Cancer biology and immunology, Clinical Genetics, Medical Oncology, Pathology, and Radiology & Nuclear Medicine
Subjects: 0301 basic medicine, Linkage disequilibrium, endocrine system diseases, Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], 45/43, General Physics and Astronomy, Genome-wide association study, Linkage Disequilibrium, Breast cancer, 0302 clinical medicine, 3123 Gynaecology and paediatrics, Risk Factors, Genotype, breast neoplasms, Medicine and Health Sciences, 631/208/68, skin and connective tissue diseases, Cancer genetics, adult, alleles, BRCA1 protein, BRCA2 protein, female, genetic predisposition to disease, genome-wide association study, genotype, humans, linkage disequilibrium, middle aged, mutation, quantitative trait loci, risk factors, polymorphism, single nucleotide, HEBON Investigators, Genetics, neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES], education.field_of_study, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Multidisciplinary, Otros calificadores::Otros calificadores::/genética [Otros calificadores], BRCA1 Protein, Genetic Predisposition to Disease/genetics, article, Single Nucleotide, Middle Aged, BRCA2 Protein/genetics, 3. Good health, Mama - Càncer - Factors de risc, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Genome-Wide Association Study/methods, Medical genetics, Female, Medical Genetics, 692/499, Adult, medicine.medical_specialty, 45/61, Science, 3122 Cancers, Population, Quantitative Trait Loci, Genetic Phenomena::Genetic Variation::Mutation [PHENOMENA AND PROCESSES], ABCTB Investigators, 631/67/2324, Breast Neoplasms, Biology, Breast Neoplasms/genetics, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Càncer de mama, GEMO Study Collaborators, 03 medical and health sciences, Cancer epidemiology, SDG 3 - Good Health and Well-being, Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, Humans, Genetic Predisposition to Disease, Allele, Polymorphism, education, EMBRACE Collaborators, fenómenos genéticos::variación genética::mutación [FENÓMENOS Y PROCESOS], Alleles, Medicinsk genetik, BRCA2 Protein, Mutació (Biologia), General Chemistry, 631/67/1347, Genotype frequency, 030104 developmental biology, Mutation, Mama - Càncer - Aspectes genètics, BRCA1 Protein/genetics, 3111 Biomedicine, KConFab Investigators, Quantitative Trait Loci/genetics, Genètica, Genome-Wide Association Study
Abstract: Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P, Breast cancer risk for BRCA1/BRCA2 mutation carriers varies depending on other genetic factors. Here, the authors perform a case-only genome-wide association study and highlight novel loci associated with breast cancer risk for BRCA1/BRCA2 mutation carriers.
Published: 2021

36. Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants

Author: Overbeek, Kasper A., Rodríguez-Girondo, Mar D.M., Wagner, Anja, Van Der Stoep, Nienke, Van Den Akker, Peter C., Oosterwijk, Jan C., Van Os, Theo A., Van Der Kolk, Lizet E., Vasen, Hans F.A., Hes, Frederik J., Cahen, Djuna L., Bruno, Marco J., Potjer, Thomas P., Overbeek, Kasper A., Rodríguez-Girondo, Mar D.M., Wagner, Anja, Van Der Stoep, Nienke, Van Den Akker, Peter C., Oosterwijk, Jan C., Van Os, Theo A., Van Der Kolk, Lizet E., Vasen, Hans F.A., Hes, Frederik J., Cahen, Djuna L., Bruno, Marco J., and Potjer, Thomas P.
Abstract: Background Pathogenic variants in the CDKN2A gene are generally associated with the development of melanoma and pancreatic ductal adenocarcinoma (PDAC), but specific genotype-phenotype correlations might exist and the extent of PDAC risk is not well established for many variants. Methods Using the Dutch national familial melanoma database, we identified all families with a pathogenic CDKN2A variant and investigated the occurrence of PDAC within these families. We also estimated the standardised incidence ratio and lifetime PDAC risk for carriers of a highly prevalent variant in these families. Results We identified 172 families in which 649 individuals carried 15 different pathogenic variants. The most prevalent variant was the founder mutation c.225_243del (p16-Leiden, 484 proven carriers). Second most prevalent was c.67G>C (55 proven carriers). PDAC developed in 95 of 163 families (58%, including 373 of 629 proven carriers) harbouring a variant with an effect on the p16INK4a protein, whereas PDAC did not occur in the 9 families (20 proven carriers) with a variant affecting only p14ARF. In the c.67G>C families, PDAC occurred in 12 of the 251 (5%) persons at risk. The standardised incidence ratio was 19.1 (95% CI 8.3 to 33.6) and the cumulative PDAC incidence at age 75 years (lifetime risk) was 19% (95% CI 7.5% to 30.1%). Conclusions Our results support the notion that pathogenic CDKN2A variants affecting the p16INK4a protein, including c.67G>C, are associated with increased PDAC risk and carriers of such variants should be offered pancreatic cancer surveillance. There is no clinical evidence that impairment of only the p14ARF protein leads to an increased PDAC risk.
Published: 2021

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

Author: Genetica Klinische Genetica, Cancer, Reumkens, Kelly, Tummers, Marly H E, Severijns, Yil, Gietel-Habets, Joyce J G, van Kuijk, Sander M J, Aalfs, Cora M, van Asperen, Christi J, Ausems, Margreet G E M, Collée, Margriet, Dommering, Charlotte J, Kets, Marleen, van der Kolk, Lizet E, Oosterwijk, Jan C, Tjan-Heijnen, Vivianne C G, van der Weijden, Trudy, de Die-Smulders, Christine E M, van Osch, Liesbeth A D M, Genetica Klinische Genetica, Cancer, Reumkens, Kelly, Tummers, Marly H E, Severijns, Yil, Gietel-Habets, Joyce J G, van Kuijk, Sander M J, Aalfs, Cora M, van Asperen, Christi J, Ausems, Margreet G E M, Collée, Margriet, Dommering, Charlotte J, Kets, Marleen, van der Kolk, Lizet E, Oosterwijk, Jan C, Tjan-Heijnen, Vivianne C G, van der Weijden, Trudy, de Die-Smulders, Christine E M, and van Osch, Liesbeth A D M
Published: 2021

38. Breast cancer screening in BRCA1 and BRCA2 mutation carriers after risk reducing salpingo-oophorectomy

Author: Fakkert, Ingrid E., Jansen, Liesbeth, Meijer, Kees, Kok, Theo, Oosterwijk, Jan C., Mourits, Marian J. E., and de Bock, Geertruida H.
Published: 2011
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39. Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age

Author: van der Kolk, Dorina M., de Bock, Geertruida H., Leegte, Beike K., Schaapveld, Michael, Mourits, Marian J. E., de Vries, Jakob, van der Hout, Annemieke H., and Oosterwijk, Jan C.
Published: 2010
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40. 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, Richard M, Velthuizen, Maria E, Hogervorst, Frans B L, EJ Meijers-Heijboer, Hanne, Seynaeve, Caroline, Collée, Margriet J, Verhoef, Senno, Ausems, Margreet G E M, Hoogerbrugge, Nicoline, van Asperen, Christi J, Gómez García, Encarna, Menko, Fred, Oosterwijk, Jan C, Devilee, Peter, Veer, Laura J vanʼt, van Leeuwen, Flora E, Easton, Douglas F, Rookus, Matti A, Antoniou, Antonis C, Rookus, MA, Brohet, RM, Hogervorst, FBL, van Leeuwen, FE, Verhoef, S, Schmidt, MK, de Lange, JL, Collée, JM, van den Ouweland, AMW, Hooning, MJ, Seynaeve, C, van Deurzen, CHM, van Asperen, CJ, Wijnen, JT, Tollenaar, RAEM, Devilee, P, van Cronenburg, TCTEF, Kets, CM, Mensenkamp, AR, Ausems, MGEM, van der Luijt, RB, Aalfs, CM, van Os, TAM, Gille, JJP, Waisfisz, Q, Meijers-Heijboer, HEJ, Gómez-Garcia, EB, Blok, MJ, Oosterwijk, JC, van der Hout, AH, Mourits, MJ, de Bock, GH, and Vasen, HFA
Published: 2014
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41. Factors Affecting Sensitivity and Specificity of Screening Mammography and MRI in Women with an Inherited Risk for Breast Cancer

Author: Kriege, Mieke, Brekelmans, Cecile T. M., Obdeijn, Inge Marie, Boetes, Carla, Zonderland, Harmine M., Muller, Sara H., Kok, Theo, Manoliu, Radu A., Besnard, A. Peter E., Tilanus-Linthorst, Madeleine M. A., Seynaeve, Caroline, Bartels, Carina C. M., Kaas, Reini, Meijer, Siebren, Oosterwijk, Jan C., Hoogerbrugge, Nicoline, Tollenaar, Rob A. E. M., Rutgers, Emiel J. T., de Koning, Harry J., and Klijn, Jan G. M.
Published: 2006
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42. Cost-effectiveness of Breast Cancer Screening With Magnetic Resonance Imaging for Women at Familial Risk

Author: Amarens Geuzinge, H., Obdeijn, Inge-Marie, Rutgers, Emiel J.T., Saadatmand, Sepideh, Mann, R.M., Oosterwijk, Jan C., Tilanus-Linthorst, Madeleine M.A., Koning, Harry J. de, Amarens Geuzinge, H., Obdeijn, Inge-Marie, Rutgers, Emiel J.T., Saadatmand, Sepideh, Mann, R.M., Oosterwijk, Jan C., Tilanus-Linthorst, Madeleine M.A., and Koning, Harry J. de
Abstract: Contains fulltext : 226209.pdf (Publisher’s version ) (Closed access)
Published: 2020

43. Do Preferred Risk Formats Lead to Better Understanding? A Multicenter Controlled Trial on Communicating Familial Breast Cancer Risks Using Different Risk Formats

Author: Henneman,Lidewij, van Asperen,Christi J, Oosterwijk,Jan C, Menko,Fred H, Claassen,Liesbeth, Timmermans,DaniÃ«lle RM, Henneman,Lidewij, van Asperen,Christi J, Oosterwijk,Jan C, Menko,Fred H, Claassen,Liesbeth, and Timmermans,DaniÃ«lle RM
Abstract: Lidewij Henneman,1 Christi J van Asperen,2 Jan C Oosterwijk,3 Fred H Menko,4 Liesbeth Claassen,5 Daniëlle RM Timmermans5 1Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit, Amsterdam, the Netherlands; 2Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands; 3Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands; 4Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, the Netherlands; 5Department of Public and Occupational Health, Amsterdam UMC, Vrije Universiteit, Amsterdam, the NetherlandsCorrespondence: Lidewij HennemanDepartment of Clinical Genetics, Amsterdam UMC, Vrije Universiteit, PO Box 7057, 1007 MB, Amsterdam, the NetherlandsTel +31 20-4449815Email l.henneman@amsterdamumc.nlPurpose: Counselees’ preferences are considered important for the choice of risk communication format and for improving patient-centered care. We here report on counselees’ preferences for how risks are presented in familial breast cancer counseling and the impact of this preferred format on their understanding of risk.Patients and Methods: As part of a practice-based randomized controlled trial, 326 unaffected women with a family history of breast cancer received their lifetime risk in one of five presentation formats after standard genetic counseling in three Dutch familial cancer clinics: 1) in percentages, 2) in frequencies (“X out of 100”), 3) in frequencies plus graphical format (10× 10 human icons), 4) in frequencies and 10-year age-related risk and 5) in frequencies and 10-year age-related risk plus graphical format. Format preferences and risk understanding (accuracy) were assessed at 2-week follow-up by a questionnaire, completed by 279/326 women.Results: The most preferred risk communication formats were numbers combined with verbal descriptions (37%) and numbers only (26%). Of the numerical formats
Published: 2020

44. Interim Results from the IMPACT Study:Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

Author: Page, Elizabeth C, Bancroft, Elizabeth K, Brook, Mark N, Assel, Melissa, Hassan Al Battat, Mona, Thomas, Sarah, Taylor, Natalie, Chamberlain, Anthony, Pope, Jennifer, Raghallaigh, Holly Ni, Evans, D Gareth, Rothwell, Jeanette, Maehle, Lovise, Grindedal, Eli Marie, James, Paul, Mascarenhas, Lyon, McKinley, Joanne, Side, Lucy, Thomas, Tessy, van Asperen, Christi, Vasen, Hans, Kiemeney, Lambertus A, Ringelberg, Janneke, Jensen, Thomas Dyrsø, Osther, Palle J S, Helfand, Brian T, Genova, Elena, Oldenburg, Rogier A, Cybulski, Cezary, Wokolorczyk, Dominika, Ong, Kai-Ren, Huber, Camilla, Lam, Jimmy, Taylor, Louise, Salinas, Monica, Feliubadaló, Lidia, Oosterwijk, Jan C, van Zelst-Stams, Wendy, Cook, Jackie, Rosario, Derek J, Domchek, Susan, Powers, Jacquelyn, Buys, Saundra, O'Toole, Karen, Ausems, Margreet G E M, Schmutzler, Rita K, Rhiem, Kerstin, Izatt, Louise, Tripathi, Vishakha, Cardoso, Marta, Human Genetics, Targeted Gynaecologic Oncology (TARGON), and Damage and Repair in Cancer Development and Cancer Treatment (DARE)
Subjects: CANCER MORTALITY, Prostate cancer, endocrine system diseases, PREDICTION, Targeted prostate screening, MEN, OVARIAN, urologic and male genital diseases, BRCA1, BREAST, BRCA2, Prostate-specific-antigen, INCREASE, ERSPC, SURVIVAL, TRIAL, skin and connective tissue diseases
Abstract: BACKGROUND: Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with germline BRCA1/2 mutations.OBJECTIVE: To report the utility of PSA screening, PrCa incidence, positive predictive value of PSA, biopsy, and tumour characteristics after 3 yr of screening, by BRCA status.DESIGN, SETTING, AND PARTICIPANTS: Men aged 40-69 yr with a germline pathogenic BRCA1/2 mutation and male controls testing negative for a familial BRCA1/2 mutation were recruited. Participants underwent PSA screening for 3 yr, and if PSA > 3.0 ng/ml, men were offered prostate biopsy.OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: PSA levels, PrCa incidence, and tumour characteristics were evaluated. Statistical analyses included Poisson regression offset by person-year follow-up, chi-square tests for proportion t tests for means, and Kruskal-Wallis for medians.RESULTS AND LIMITATIONS: A total of 3027 patients (2932 unique individuals) were recruited (919 BRCA1 carriers, 709 BRCA1 noncarriers, 902 BRCA2 carriers, and 497 BRCA2 noncarriers). After 3 yr of screening, 527 men had PSA > 3.0 ng/ml, 357 biopsies were performed, and 112 PrCa cases were diagnosed (31 BRCA1 carriers, 19 BRCA1 noncarriers, 47 BRCA2 carriers, and 15 BRCA2 noncarriers). Higher compliance with biopsy was observed in BRCA2 carriers compared with noncarriers (73% vs 60%). Cancer incidence rate per 1000 person years was higher in BRCA2 carriers than in noncarriers (19.4 vs 12.0; p = 0.03); BRCA2 carriers were diagnosed at a younger age (61 vs 64 yr; p = 0.04) and were more likely to have clinically significant disease than BRCA2 noncarriers (77% vs 40%; p = 0.01). No differences in age or tumour characteristics were detected between BRCA1 carriers and BRCA1 noncarriers. The 4 kallikrein marker model discriminated better (area under the curve [AUC] = 0.73) for clinically significant cancer at biopsy than PSA alone (AUC = 0.65).CONCLUSIONS: After 3 yr of screening, compared with noncarriers, BRCA2 mutation carriers were associated with a higher incidence of PrCa, younger age of diagnosis, and clinically significant tumours. Therefore, systematic PSA screening is indicated for men with a BRCA2 mutation. Further follow-up is required to assess the role of screening in BRCA1 mutation carriers.PATIENT SUMMARY: We demonstrate that after 3 yr of prostate-specific antigen (PSA) testing, we detect more serious prostate cancers in men with BRCA2 mutations than in those without these mutations. We recommend that male BRCA2 carriers are offered systematic PSA screening.
Published: 2019

45. Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

Author: Page, Elizabeth C., Bancroft, Elizabeth K., Brook, Mark N., Assel, Melissa, Al Battat, Mona Hassan, Thomas, Sarah, Taylor, Natalie, Chamberlain, Anthony, Pope, Jennifer, Raghallaigh, Holly Ni, Evans, D. Gareth, Rothwell, Jeanette, Maehle, Lovise, Grindedal, Eli Marie, James, Paul, Mascarenhas, Lyon, McKinley, Joanne, Side, Lucy, Thomas, Tessy, van Asperen, Christi, Vasen, Hans, Kiemeney, Lambertus A., Ringelberg, Janneke, Jensen, Thomas Dyrso, Osther, Palle J. S., Helfand, Brian T., Genova, Elena, Oldenburg, Rogier A., Cybulski, Cezary, Wokolorczyk, Dominika, Ong, Kai-Ren, Huber, Camilla, Lam, Jimmy, Taylor, Louise, Salinas, Monica, Feliubadalo, Lidia, Oosterwijk, Jan C., van Zelst-Stamsm, Wendy, Cook, Jackie, Rosario, Derek J., Domchek, Susan, Powers, Jacquelyn, Buys, Saundra, O'Toole, Karen, Ausems, Margreet G. E. M., Schmutzler, Rita K., Rhiem, Kerstin, Izatt, Louise, Tripathi, Vishakha, van den Enden, Apollonia T. J. M. Helderman, Eeles, Rosalind A., MUMC+: DA KG Polikliniek (9), and RS: GROW - R4 - Reproductive and Perinatal Medicine
Subjects: CANCER MORTALITY, Prostate cancer, Targeted prostate screening, PREDICTION, MEN, BRCA1, OVARIAN, BRCA2, Prostate-specific-antigen, BREAST, INCREASE, ERSPC, SURVIVAL, TRIAL
Abstract: Background: Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with germline BRCA1/2 mutations. Objective: To report the utility of PSA screening, PrCa incidence, positive predictive value of PSA, biopsy, and tumour characteristics after 3 yr of screening, by BRCA status. Design, setting, and participants: Men aged 40-69 yr with a germline pathogenic BRCA1/ 2 mutation and male controls testing negative for a familial BRCA1/2 mutation were recruited. Participants underwent PSA screening for 3 yr, and if PSA> 3.0 ng/ml, men were offered prostate biopsy. Outcome measurements and statistical analysis: PSA levels, PrCa incidence, and tumour characteristics were evaluated. Statistical analyses included Poisson regression offset by person-year follow-up, chi-square tests for proportion t tests for means, and Kruskal-Wallis for medians. Results and limitations: A total of 3027 patients (2932 unique individuals) were recruited (919 BRCA1 carriers, 709 BRCA1 noncarriers, 902 BRCA2 carriers, and 497 BRCA2 noncarriers). After 3 yr of screening, 527 men had PSA > 3.0 ng/ml, 357 biopsies were performed, and 112 PrCa cases were diagnosed (31 BRCA1 carriers, 19 BRCA1 noncarriers, 47 BRCA2 carriers, and 15 BRCA2 noncarriers). Higher compliance with biopsy was observed in BRCA2 carriers compared with noncarriers (73% vs 60%). Cancer incidence rate per 1000 person years was higher in BRCA2 carriers than in noncarriers (19.4 vs 12.0; p = 0.03); BRCA2 carriers were diagnosed at a younger age (61 vs 64 yr; p = 0.04) and were more likely to have clinically significant disease than BRCA2 noncarriers (77% vs 40%; p= 0.01). No differences in age or tumour characteristics were detected between BRCA1 carriers and BRCA1 noncarriers. The 4 kallikrein marker model discriminated better (area under the curve [AUC] = 0.73) for clinically significant cancer at biopsy than PSA alone (AUC = 0.65). Conclusions: After 3 yr of screening, compared with noncarriers, BRCA2 mutation carriers were associated with a higher incidence of PrCa, younger age of diagnosis, and clinically significant tumours. Therefore, systematic PSA screening is indicated for men with a BRCA2 mutation. Further follow-up is required to assess the role of screening in BRCA1 mutation carriers. Patient summary: We demonstrate that after 3 yr of prostate-specific antigen (PSA) testing, we detect more serious prostate cancers in men with BRCA2 mutations than in those without these mutations. We recommend that male BRCA2 carriers are offered systematic PSA screening. (C) 2019 The Authors. Published by Elsevier B.V.
Published: 2019

46. Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition

Author: Kriege, Mieke, Obdijn, Inge Marie, Manoliu, Radu A., Kok, Theu, Brekelmans, Cecile, Peterse, Hans, Tilanus-Linthorst, Madeleine M.A., Muller, Sara H., Boetes, Carla, Meijer, Sybren, Oosterwijk, Jan C., Beex, Louk V.A.M., Besnard, Peter E., Tollenar, Rob A.E.M., de Koning, Harry J., Rutgers, Emiel J.T., Zonderland, Harmine M., and Klijn, Jan G.M.
Subjects: Breast cancer -- Medical examination, Breast cancer -- Research, Magnetic resonance imaging -- Evaluation, Magnetic resonance imaging -- Research
Abstract: The efficacy of mammographic and MRI screening for breast cancer in women with a family history of the disease or a genetic predisposition to breast cancer is compared in this study. The study shows that the screening program used, especially MRI screening, can detect breast cancer at an early stage in women at risk for breast cancer.
Published: 2004

47. Cost-Effectiveness of Screening Women With Familial Risk for Breast Cancer With Magnetic Resonance Imaging

Author: Saadatmand, Sepideh, Tilanus-Linthorst, Madeleine M. A., Rutgers, Emiel J. T., Hoogerbrugge, Nicoline, Oosterwijk, Jan C., Tollenaar, Rob A. E. M., Hooning, Maartje, Loo, Claudette E., Obdeijn, Inge-Marie, Heijnsdijk, Eveline A. M., and de Koning, Harry J.
Published: 2013
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48. Optimal age to start preventive measures in women with BRCA1/2 mutations or high familial breast cancer risk

Author: Tilanus-Linthorst, Madeleine M.A., Lingsma, Hester F., Evans, Gareth D., Thompson, Deborah, Kaas, Reinoutje, Manders, Peggy, van Asperen, Christi J., Adank, Muriel, Hooning, Maartje J., Kwan Lim, Gek E., Eeles, Rosalind, Oosterwijk, Jan C., Leach, Martin O., and Steyerberg, Ewout W.
Published: 2013
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49. Genetic counseling does not fulfill the counseleesʼ need for certainty in hereditary breast/ovarian cancer families: an explorative assessment

Author: Vos, Joël, Menko, Fred H., Oosterwijk, Jan C., van Asperen, Christi J., Stiggelbout, Anne M., and Tibben, Aad
Published: 2013
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50. The counseleesʼ self-reported request for psychological help in genetic counseling for hereditary breast/ovarian cancer: not only psychopathology matters

Author: Vos, Joël, van Asperen, Christi J., Oosterwijk, Jan C., Menko, Fred H., Collee, Margriet J., Garcia, Encarna Gomez, and Tibben, Aad
Published: 2013
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