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1. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

Author: Li, Shuai, Silvestri, Valentina, Leslie, Goska, Rebbeck, Timothy R, Neuhausen, Susan L, Hopper, John L, Nielsen, Henriette Roed, Lee, Andrew, Yang, Xin, McGuffog, Lesley, Parsons, Michael T, Andrulis, Irene L, Arnold, Norbert, Belotti, Muriel, Borg, Åke, Buecher, Bruno, Buys, Saundra S, Caputo, Sandrine M, Chung, Wendy K, Colas, Chrystelle, Colonna, Sarah V, Cook, Jackie, Daly, Mary B, de la Hoya, Miguel, de Pauw, Antoine, Delhomelle, Hélène, Eason, Jacqueline, Engel, Christoph, Evans, D Gareth, Faust, Ulrike, Fehm, Tanja N, Fostira, Florentia, Fountzilas, George, Frone, Megan, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Gehrig, Andrea, Glendon, Gord, Goldgar, David E, Golmard, Lisa, Greene, Mark H, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hassan, Tiara, Hentschel, Julia, Horvath, Judit, Izatt, Louise, Janavicius, Ramunas, Jiao, Yue, John, Esther M, Karlan, Beth Y, Kim, Sung-Won, Konstantopoulou, Irene, Kwong, Ava, Laugé, Anthony, Lee, Jong Won, Lesueur, Fabienne, Mebirouk, Noura, Meindl, Alfons, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Yie, Joanne Ngeow Yuen, Niederacher, Dieter, Park, Sue K, Pedersen, Inge Sokilde, Ramser, Juliane, Ramus, Susan J, Rantala, Johanna, Rashid, Muhammad U, Reichl, Florian, Ritter, Julia, Rump, Andreas, Santamariña, Marta, Saule, Claire, Schmidt, Gunnar, Schmutzler, Rita K, Senter, Leigha, Shariff, Saba, Singer, Christian F, Southey, Melissa C, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen, Teo, Soo Hwang, Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Toland, Amanda E, Torres, Diana, Vega, Ana, Wagner, Sebastian A, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard HF, Yannoukakos, Drakoulis, Spurdle, Amanda B, Easton, Douglas F, and Chenevix-Trench, Georgia
Subjects: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Prostate Cancer, Women's Health, Digestive Diseases, Breast Cancer, Ovarian Cancer, Pancreatic Cancer, Prevention, Cancer, Urologic Diseases, Rare Diseases, 2.1 Biological and endogenous factors, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Breast Neoplasms, Male, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Infant, Newborn, Male, Mutation, Ovarian Neoplasms, Pancreatic Neoplasms, Risk, Clinical Sciences, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract: PurposeTo provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management.MethodsWe used data from 3,184 BRCA1 and 2,157 BRCA2 families in the Consortium of Investigators of Modifiers of BRCA1/2 to estimate age-specific relative (RR) and absolute risks for 22 first primary cancer types adjusting for family ascertainment.ResultsBRCA1 PVs were associated with risks of male breast (RR = 4.30; 95% CI, 1.09 to 16.96), pancreatic (RR = 2.36; 95% CI, 1.51 to 3.68), and stomach (RR = 2.17; 95% CI, 1.25 to 3.77) cancers. Associations with colorectal and gallbladder cancers were also suggested. BRCA2 PVs were associated with risks of male breast (RR = 44.0; 95% CI, 21.3 to 90.9), stomach (RR = 3.69; 95% CI, 2.40 to 5.67), pancreatic (RR = 3.34; 95% CI, 2.21 to 5.06), and prostate (RR = 2.22; 95% CI, 1.63 to 3.03) cancers. The stomach cancer RR was higher for females than males (6.89 v 2.76; P = .04). The absolute risks to age 80 years ranged from 0.4% for male breast cancer to approximately 2.5% for pancreatic cancer for BRCA1 carriers and from approximately 2.5% for pancreatic cancer to 27% for prostate cancer for BRCA2 carriers.ConclusionIn addition to female breast and ovarian cancers, BRCA1 and BRCA2 PVs are associated with increased risks of male breast, pancreatic, stomach, and prostate (only BRCA2 PVs) cancers, but not with the risks of other previously suggested cancers. The estimated age-specific risks will refine cancer risk management in men and women with BRCA1/2 PVs.
Published: 2022

2. Author Correction: 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 BM, Clarke, Christine L, GEMO Study Collaborators, EMBRACE Collaborators, 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 Gareth, Fasching, Peter A, Flyger, Henrik, Fostira, Florentia, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M, Garber, Judy, Garcia-Barberan, Vanesa, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, Gayther, Simon A, Gehrig, Andrea, Georgoulias, Vassilios, Giles, Graham G, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A, Hart, Steven N, He, Wei, Hogervorst, Frans BL, Hollestelle, Antoinette, and Hopper, John L
Subjects: GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Cancer
Abstract: A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-23162-4.
Published: 2021

3. 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, Heiko, 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 BM, Clarke, Christine L, GEMO Study Collaborators, EMBRACE Collaborators, 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 Gareth, Fasching, Peter A, Flyger, Henrik, Fostira, Florentia, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M, Garber, Judy, Garcia-Barberan, Vanesa, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, Gayther, Simon A, Gehrig, Andrea, Georgoulias, Vassilios, Giles, Graham G, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A, Hart, Steven N, He, Wei, Hogervorst, Frans BL, Hollestelle, Antoinette, and Hopper, John L
Subjects: GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Humans, Breast Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, BRCA2 Protein, Risk Factors, Genotype, Linkage Disequilibrium, Mutation, Polymorphism, Single Nucleotide, Alleles, Quantitative Trait Loci, Adult, Middle Aged, Female, Genome-Wide Association Study, Breast Cancer, Prevention, Cancer, Genetic Testing, Human Genome, Genetics, 2.1 Biological and endogenous factors
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
Published: 2021

4. 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

5. 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

6. Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.

Author: Vigorito, Elena, Kuchenbaecker, Karoline B, Beesley, Jonathan, Adlard, Julian, Agnarsson, Bjarni A, Andrulis, Irene L, Arun, Banu K, Barjhoux, Laure, Belotti, Muriel, Benitez, Javier, Berger, Andreas, Bojesen, Anders, Bonanni, Bernardo, Brewer, Carole, Caldes, Trinidad, Caligo, Maria A, Campbell, Ian, Chan, Salina B, Claes, Kathleen BM, Cohn, David E, Cook, Jackie, Daly, Mary B, Damiola, Francesca, Davidson, Rosemarie, Pauw, Antoine de, Delnatte, Capucine, Diez, Orland, Domchek, Susan M, Dumont, Martine, Durda, Katarzyna, Dworniczak, Bernd, Easton, Douglas F, Eccles, Diana, Edwinsdotter Ardnor, Christina, Eeles, Ros, Ejlertsen, Bent, Ellis, Steve, Evans, D Gareth, Feliubadalo, Lidia, Fostira, Florentia, Foulkes, William D, Friedman, Eitan, Frost, Debra, Gaddam, Pragna, Ganz, Patricia A, Garber, Judy, Garcia-Barberan, Vanesa, Gauthier-Villars, Marion, Gehrig, Andrea, Gerdes, Anne-Marie, Giraud, Sophie, Godwin, Andrew K, Goldgar, David E, Hake, Christopher R, Hansen, Thomas VO, Healey, Sue, Hodgson, Shirley, Hogervorst, Frans BL, Houdayer, Claude, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jacobs, Lauren, Jakubowska, Anna, Janavicius, Ramunas, Jaworska-Bieniek, Katarzyna, Jensen, Uffe Birk, John, Esther M, Vijai, Joseph, Karlan, Beth Y, Kast, Karin, KConFab Investigators, Khan, Sofia, Kwong, Ava, Laitman, Yael, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Lubinski, Jan, Mai, Phuong L, Manoukian, Siranoush, Mazoyer, Sylvie, Meindl, Alfons, Mensenkamp, Arjen R, Montagna, Marco, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Olah, Edith, Olopade, Olufunmilayo I, Ong, Kai-Ren, Osorio, Ana, Park, Sue Kyung, Paulsson-Karlsson, Ylva, Pedersen, Inge Sokilde, Peissel, Bernard, and Peterlongo, Paolo
Subjects: KConFab Investigators, Chromosomes, Human, Pair 9, Humans, Ovarian Neoplasms, Genetic Predisposition to Disease, Chromosome Mapping, Polymorphism, Single Nucleotide, Genes, BRCA1, Genes, BRCA2, Female, Genetic Carrier Screening, General Science & Technology
Abstract: Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,211 (631 ovarian cancer cases) BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA 2 mutation carriers respectively, within a retrospective cohort analytical framework. In BRCA1 mutation carriers one set of eight correlated candidate causal variants for ovarian cancer risk modification was identified (top SNP rs10124837, HR: 0.73, 95%CI: 0.68 to 0.79, p-value 2× 10-16). These variants were located up to 20 kb upstream of BNC2. In BRCA2 mutation carriers one region, up to 45 kb upstream of BNC2, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95%CI: 0.59 to 0.80, p-value 1.0 × 10-6). The candidate causal in BRCA1 mutation carriers did not include the strongest associated variant at this locus in the general population. In sum, we identified a set of candidate causal variants in a region that encompasses the BNC2 transcription start site. The ovarian cancer association at 9p22.2 may be mediated by different variants in BRCA1 mutation carriers and in the general population. Thus, potentially different mechanisms may underlie ovarian cancer risk for mutation carriers and the general population.
Published: 2016

7. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Author: Phelan, Catherine M, Kuchenbaecker, Karoline B, Tyrer, Jonathan P, Kar, Siddhartha P, Lawrenson, Kate, Winham, Stacey J, Dennis, Joe, Pirie, Ailith, Riggan, Marjorie J, Chornokur, Ganna, Earp, Madalene A, Lyra, Jr, Paulo C, Lee, Janet M, Coetzee, Simon, Beesley, Jonathan, McGuffog, Lesley, Soucy, Penny, Dicks, Ed, Lee, Andrew, Barrowdale, Daniel, Lecarpentier, Julie, Leslie, Goska, Aalfs, Cora M, Aben, Katja K H, Adams, Marcia, Adlard, Julian, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia, Aravantinos, Gerasimos, Arnold, Norbert, Arun, Banu K, Arver, Brita, Azzollini, Jacopo, Balmaña, Judith, Banerjee, Susana N, Barjhoux, Laure, Barkardottir, Rosa B, Bean, Yukie, Beckmann, Matthias W, Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bernardini, Marcus Q, Birrer, Michael J, Bjorge, Line, Black, Amanda, Blankstein, Kenneth, Blok, Marinus J, Bodelon, Clara, Bogdanova, Natalia, Bojesen, Anders, Bonanni, Bernardo, Borg, Åke, Bradbury, Angela R, Brenton, James D, Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Bruinsma, Fiona, Brunet, Joan, Buecher, Bruno, Butzow, Ralf, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Campbell, Ian, Cannioto, Rikki, Carney, Michael E, Cescon, Terence, Chan, Salina B, Chang-Claude, Jenny, Chanock, Stephen, Chen, Xiao Qing, Chiew, Yoke-Eng, Chiquette, Jocelyne, Chung, Wendy K, Claes, Kathleen B M, Conner, Thomas, Cook, Linda S, Cook, Jackie, Cramer, Daniel W, Cunningham, Julie M, D'Aloisio, Aimee A, Daly, Mary B, Damiola, Francesca, Damirovna, Sakaeva Dina, Dansonka-Mieszkowska, Agnieszka, Dao, Fanny, Davidson, Rosemarie, DeFazio, Anna, Delnatte, Capucine, Doheny, Kimberly F, Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer Anne, Domchek, Susan M, Dorfling, Cecilia M, Dörk, Thilo, Dossus, Laure, Duran, Mercedes, Dürst, Matthias, Dworniczak, Bernd, Eccles, Diana, Edwards, Todd, Eeles, Ros, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B, Ellis, Steve, Elvira, Mingajeva, Eng, Kevin H, Engel, Christoph, Evans, D Gareth, Fasching, Peter A, Ferguson, Sarah, Ferrer, Sandra Fert, Flanagan, James M, Fogarty, Zachary C, Fortner, Renée T, Fostira, Florentia, Foulkes, William D, Fountzilas, George, Fridley, Brooke L, Friebel, Tara M, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, García, María J, Garcia-Barberan, Vanesa, Gehrig, Andrea, Gentry-Maharaj, Aleksandra, Gerdes, Anne-Marie, Giles, Graham G, Glasspool, Rosalind, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Goranova, Teodora, Gore, Martin, Greene, Mark H, Gronwald, Jacek, Gruber, Stephen, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hamann, Ute, Hansen, Thomas V O, Harrington, Patricia A, Harris, Holly R, Hauke, Jan, Hein, Alexander, Henderson, Alex, Hildebrandt, Michelle A T, Hillemanns, Peter, Hodgson, Shirley, Høgdall, Claus K, Høgdall, Estrid, Hogervorst, Frans B L, Holland, Helene, Hooning, Maartje J, Hosking, Karen, Huang, Ruea-Yea, Hulick, Peter J, Hung, Jillian, Hunter, David J, Huntsman, David G, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Iversen, Edwin S, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jernetz, Mats, Jensen, Allan, Jensen, Uffe Birk, John, Esther M, Johnatty, Sharon, Jones, Michael E, Kannisto, Päivi, Karlan, Beth Y, Karnezis, Anthony, Kast, Karin, Kennedy, Catherine J, Khusnutdinova, Elza, Kiemeney, Lambertus A, Kiiski, Johanna I, Kim, Sung-Won, Kjaer, Susanne K, Köbel, Martin, Kopperud, Reidun K, Kruse, Torben A, Kupryjanczyk, Jolanta, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Larrañaga, Nerea, Larson, Melissa C, Lazaro, Conxi, Le, Nhu D, Le Marchand, Loic, Lee, Jong Won, Lele, Shashikant B, Leminen, Arto, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A, Liang, Dong, Liebrich, Clemens, Lilyquist, Jenna, Lipworth, Loren, Lissowska, Jolanta, Lu, Karen H, Lubinński, Jan, Luccarini, Craig, Lundvall, Lene, Mai, Phuong L, Mendoza-Fandiño, Gustavo, Manoukian, Siranoush, Massuger, Leon F A G, May, Taymaa, Mazoyer, Sylvie, McAlpine, Jessica N, McGuire, Valerie, McLaughlin, John R, McNeish, Iain, Meijers-Heijboer, Hanne, Meindl, Alfons, Menon, Usha, Mensenkamp, Arjen R, Merritt, Melissa A, Milne, Roger L, Mitchell, Gillian, Modugno, Francesmary, Moes-Sosnowska, Joanna, Moffitt, Melissa, Montagna, Marco, Moysich, Kirsten B, Mulligan, Anna Marie, Musinsky, Jacob, Nathanson, Katherine L, Nedergaard, Lotte, Ness, Roberta B, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L, Odunsi, Kunle, Olah, Edith, Olopade, Olufunmilayo I, Olsson, Håkan, Olswold, Curtis, O'Malley, David M, Ong, Kai-ren, Onland-Moret, N Charlotte, Orr, Nicholas, Orsulic, Sandra, Osorio, Ana, Palli, Domenico, Papi, Laura, Park-Simon, Tjoung-Won, Paul, James, Pearce, Celeste L, Pedersen, Inge Søkilde, Peeters, Petra H M, Peissel, Bernard, Peixoto, Ana, Pejovic, Tanja, Pelttari, Liisa M, Permuth, Jennifer B, Peterlongo, Paolo, Pezzani, Lidia, Pfeiler, Georg, Phillips, Kelly-Anne, Piedmonte, Marion, Pike, Malcolm C, Piskorz, Anna M, Poblete, Samantha R, Pocza, Timea, Poole, Elizabeth M, Poppe, Bruce, Porteous, Mary E, Prieur, Fabienne, Prokofyeva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pujol, Pascal, Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rhiem, Kerstin, Rice, Patricia, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C, Rodríguez-Antona, Cristina, Romm, Jane, Rookus, Matti A, Rossing, Mary Anne, Rothstein, Joseph H, Rudolph, Anja, Runnebaum, Ingo B, Salvesen, Helga B, Sandler, Dale P, Schoemaker, Minouk J, Senter, Leigha, Setiawan, V Wendy, Severi, Gianluca, Sharma, Priyanka, Shelford, Tameka, Siddiqui, Nadeem, Side, Lucy E, Sieh, Weiva, Singer, Christian F, Sobol, Hagay, Song, Honglin, Southey, Melissa C, Spurdle, Amanda B, Stadler, Zsofia, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sucheston-Campbell, Lara E, Sukiennicki, Grzegorz, Sutphen, Rebecca, Sutter, Christian, Swerdlow, Anthony J, Szabo, Csilla I, Szafron, Lukasz, Tan, Yen Y, Taylor, Jack A, Tea, Muy-Kheng, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Kathryn L, Thompson, Pamela J, Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L, Tihomirova, Laima, Tinker, Anna V, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tone, Alicia, Trabert, Britton, Travis, Ruth C, Trichopoulou, Antonia, Tung, Nadine, Tworoger, Shelley S, van Altena, Anne M, Van Den Berg, David, van der Hout, Annemarie H, van der Luijt, Rob B, Van Heetvelde, Mattias, Van Nieuwenhuysen, Els, van Rensburg, Elizabeth J, Vanderstichele, Adriaan, Varon-Mateeva, Raymonda, Vega, Ana, Edwards, Digna Velez, Vergote, Ignace, Vierkant, Robert A, Vijai, Joseph, Vratimos, Athanassios, Walker, Lisa, Walsh, Christine, Wand, Dorothea, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Webb, Penelope M, Weinberg, Clarice R, Weitzel, Jeffrey N, Wentzensen, Nicolas, Whittemore, Alice S, Wijnen, Juul T, Wilkens, Lynne R, Wolk, Alicja, Woo, Michelle, Wu, Xifeng, Wu, Anna H, Yang, Hannah, Yannoukakos, Drakoulis, Ziogas, Argyrios, Zorn, Kristin K, Narod, Steven A, Easton, Douglas F, Amos, Christopher I, Schildkraut, Joellen M, Ramus, Susan J, Ottini, Laura, Goodman, Marc T, Park, Sue K, Kelemen, Linda E, Risch, Harvey A, Thomassen, Mads, Offit, Kenneth, Simard, Jacques, Schmutzler, Rita Katharina, Hazelett, Dennis, Monteiro, Alvaro N, Couch, Fergus J, Berchuck, Andrew, Chenevix-Trench, Georgia, Goode, Ellen L, Sellers, Thomas A, Gayther, Simon A, Antoniou, Antonis C, and Pharoah, Paul D P
Published: 2017
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8. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Author: Patel, Vivek L., Busch, Evan L., Friebel, Tara M., Cronin, Angel, Leslie, Goska, McGuffog, Lesley, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A., Ahmed, Munaza, Aittomaki, Kristiina, Alducci, Elisa, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barnes, Daniel R., Barroso, Alicia, Barrowdale, Daniel, Belotti, Muriel, Benitez, Javier, Bertelsen, Brigitte, Blok, Marinus J., Bodrogi, Istvan, Bonadona, Valerie, Bonanni, Bernardo, Bondavalli, Davide, Boonen, Susanne E., Borde, Julika, Borg, Ake, Bradbury, Angela R., Brady, Angela, Brewer, Carole, Brunet, Joan, Buecher, Bruno, Buys, Saundra S., Cabezas-Camarero, Santiago, Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Calvello, Mariarosaria, Campbell, Ian G., Carnevali, Ileana, Carrasco, Estela, Chan, Tsun L., Chu, Annie T. W., Chung, Wendy K., Claes, Kathleen B. M., Cook, Jackie, Cortesi, Laura, Couch, Fergus J., Daly, Mary B., Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, Della Puppa, Lara, Dennis, Joe, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M., Donaldson, Alan, Dworniczak, Bernd, Easton, Douglas F., Eccles, Diana M., Eeles, Rosalind A., Ehrencrona, Hans, Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadalo, Lidia, Foretova, Lenka, Fostira, Florentia, Fountzilas, George, Frost, Debra, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Geczi, Lajos, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Gutierrez-Barrera, Angelica M., Hahnen, Eric, Hamann, Ute, Hauke, Jan, Herold, Natalie, Hogervorst, Frans B. L., Honisch, Ellen, Hopper, John L., Hulick, Peter J., Izatt, Louise, Jager, Agnes, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, Jensen, Thomas Dyrso, Johannsson, Oskar Th, John, Esther M., Joseph, Vijai, Kang, Eunyoung, Kast, Karin, Kiiski, Johanna, I, Kim, Sung-Won, Kim, Zisun, Ko, Kwang-Pil, Konstantopoulou, Irene, Kramer, Gero, Krogh, Lotte, Kruse, Torben A., Kwong, Ava, Larsen, Mirjam, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Lee, Jihyoun, Lee, Jong Won, Lee, Min Hyuk, Lemke, Johannes, Lesueur, Fabienne, Liljegren, Annelie, Lindblom, Annika, Llovet, Patricia, Lopez-Fernandez, Adria, Lopez-Perolio, Irene, Lorca, Victor, Loud, Jennifer T., Ma, Edmond S. K., Mai, Phuong L., Manoukian, Siranoush, Mari, Veronique, Martin, Lynn, Matricardi, Laura, Mebirouk, Noura, Medici, Veronica, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Clare, Gomes, Denise Molina, Montagna, Marco, Mooij, Thea M., Moserle, Lidia, Mouret-Fourme, Emmanuelle, Mulligan, Anna Marie, Nathanson, Katherine L., Navratilova, Marie, Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn C. Cilius, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Ong, Kai-Ren, Osorio, Ana, Ott, Claus-Eric, Palli, Domenico, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth Hogh, Porteous, Mary E., Angel Pujana, Miguel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad U., Rhiem, Kerstin, Rizzolo, Piera, Robson, Mark E., Rookus, Matti A., Rossing, Caroline M., Ruddy, Kathryn J., Santos, Catarina, Saule, Claire, Scarpitta, Rosa, Schmutzler, Rita K., Schuster, Helene, Senter, Leigha, Seynaeve, Caroline M., Shah, Payal D., Sharma, Priyanka, Shin, Vivian Y., Silvestri, Valentina, Simard, Jacques, Singer, Christian F., Skytte, Anne-Bine, Snape, Katie, Solano, Angela R., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steele, Linda, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Stradella, Agostina, Sunde, Lone, Sutter, Christian, Tan, Yen Y., Teixeira, Manuel R., Teo, Soo Hwang, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tommasi, Stefania, Torres, Diana, Toss, Angela, Trainer, Alison H., Tung, Nadine, van Asperen, Christi J., van der Baan, Frederieke H., van der Kolk, Lizet E., van der Luijt, Rob B., van Hest, Liselotte P., Varesco, Liliana, Varon-Mateeva, Raymonda, Viel, Alessandra, Vierstrate, Jeroen, Villa, Roberta, von Wachenfeldt, Anna, Wagner, Philipp, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wieme, Greet, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zorn, Kristin K., D'Amico, Anthony, V, Freedman, Matthew L., Pomerantz, Mark M., Chenevix-Trench, Georgia, Antoniou, Antonis C., Neuhausen, Susan L., Ottini, Laura, Nielsen, Henriette Roed, Rebbeck, Timothy R., Patel, Vivek L., Busch, Evan L., Friebel, Tara M., Cronin, Angel, Leslie, Goska, McGuffog, Lesley, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A., Ahmed, Munaza, Aittomaki, Kristiina, Alducci, Elisa, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barnes, Daniel R., Barroso, Alicia, Barrowdale, Daniel, Belotti, Muriel, Benitez, Javier, Bertelsen, Brigitte, Blok, Marinus J., Bodrogi, Istvan, Bonadona, Valerie, Bonanni, Bernardo, Bondavalli, Davide, Boonen, Susanne E., Borde, Julika, Borg, Ake, Bradbury, Angela R., Brady, Angela, Brewer, Carole, Brunet, Joan, Buecher, Bruno, Buys, Saundra S., Cabezas-Camarero, Santiago, Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Calvello, Mariarosaria, Campbell, Ian G., Carnevali, Ileana, Carrasco, Estela, Chan, Tsun L., Chu, Annie T. W., Chung, Wendy K., Claes, Kathleen B. M., Cook, Jackie, Cortesi, Laura, Couch, Fergus J., Daly, Mary B., Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, Della Puppa, Lara, Dennis, Joe, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M., Donaldson, Alan, Dworniczak, Bernd, Easton, Douglas F., Eccles, Diana M., Eeles, Rosalind A., Ehrencrona, Hans, Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadalo, Lidia, Foretova, Lenka, Fostira, Florentia, Fountzilas, George, Frost, Debra, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Geczi, Lajos, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Gutierrez-Barrera, Angelica M., Hahnen, Eric, Hamann, Ute, Hauke, Jan, Herold, Natalie, Hogervorst, Frans B. L., Honisch, Ellen, Hopper, John L., Hulick, Peter J., Izatt, Louise, Jager, Agnes, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, Jensen, Thomas Dyrso, Johannsson, Oskar Th, John, Esther M., Joseph, Vijai, Kang, Eunyoung, Kast, Karin, Kiiski, Johanna, I, Kim, Sung-Won, Kim, Zisun, Ko, Kwang-Pil, Konstantopoulou, Irene, Kramer, Gero, Krogh, Lotte, Kruse, Torben A., Kwong, Ava, Larsen, Mirjam, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Lee, Jihyoun, Lee, Jong Won, Lee, Min Hyuk, Lemke, Johannes, Lesueur, Fabienne, Liljegren, Annelie, Lindblom, Annika, Llovet, Patricia, Lopez-Fernandez, Adria, Lopez-Perolio, Irene, Lorca, Victor, Loud, Jennifer T., Ma, Edmond S. K., Mai, Phuong L., Manoukian, Siranoush, Mari, Veronique, Martin, Lynn, Matricardi, Laura, Mebirouk, Noura, Medici, Veronica, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Clare, Gomes, Denise Molina, Montagna, Marco, Mooij, Thea M., Moserle, Lidia, Mouret-Fourme, Emmanuelle, Mulligan, Anna Marie, Nathanson, Katherine L., Navratilova, Marie, Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn C. Cilius, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Ong, Kai-Ren, Osorio, Ana, Ott, Claus-Eric, Palli, Domenico, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth Hogh, Porteous, Mary E., Angel Pujana, Miguel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad U., Rhiem, Kerstin, Rizzolo, Piera, Robson, Mark E., Rookus, Matti A., Rossing, Caroline M., Ruddy, Kathryn J., Santos, Catarina, Saule, Claire, Scarpitta, Rosa, Schmutzler, Rita K., Schuster, Helene, Senter, Leigha, Seynaeve, Caroline M., Shah, Payal D., Sharma, Priyanka, Shin, Vivian Y., Silvestri, Valentina, Simard, Jacques, Singer, Christian F., Skytte, Anne-Bine, Snape, Katie, Solano, Angela R., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steele, Linda, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Stradella, Agostina, Sunde, Lone, Sutter, Christian, Tan, Yen Y., Teixeira, Manuel R., Teo, Soo Hwang, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tommasi, Stefania, Torres, Diana, Toss, Angela, Trainer, Alison H., Tung, Nadine, van Asperen, Christi J., van der Baan, Frederieke H., van der Kolk, Lizet E., van der Luijt, Rob B., van Hest, Liselotte P., Varesco, Liliana, Varon-Mateeva, Raymonda, Viel, Alessandra, Vierstrate, Jeroen, Villa, Roberta, von Wachenfeldt, Anna, Wagner, Philipp, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wieme, Greet, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zorn, Kristin K., D'Amico, Anthony, V, Freedman, Matthew L., Pomerantz, Mark M., Chenevix-Trench, Georgia, Antoniou, Antonis C., Neuhausen, Susan L., Ottini, Laura, Nielsen, Henriette Roed, and Rebbeck, Timothy R.
Abstract: Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. Weevaluated whether PSVs inBRCA1/2 were associated with risk of overall prostate cancer or high grade (Gleason 8+) prostate cancer using an international sample of 65 BRCA1 and 171 BRCA2 male PSV carriers with prostate cancer, and 3,388 BRCA1 and 2,880 BRCA2 male PSV carriers without prostate cancer. PSVs in the 30 region of BRCA2 (c.7914+) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001c.7913 [HR = 1.78; 95% confidence interval (CI), 1.25-2.52; P = 0.001], as well as elevated risk of Gleason 8+ prostate cancer (HR = 3.11; 95% CI, 1.63-5.95; P = 0.001). c.756-c.1000 was also associated with elevated prostate cancer risk (HR = 2.83; 95% CI, 1.71-4.68; P = 0.00004) and elevated risk of Gleason 8+prostate cancer (HR = 4.95; 95% CI, 2.12-11.54; P = 0.0002). No genotype-phenotype associations were detected for PSVs in BRCA1. These results demonstrate that specific BRCA2 PSVs may be associated with elevated risk of developing aggressive prostate cancer. Significance: Aggressive prostate cancer risk in BRCA2 mutation carriers may vary according to the specific BRCA2 mutation inherited by the at-risk individual.
Published: 2020

9. Circulating biomarkers for early detection and clinical management of colorectal cancer

Author: Marcuello, María, primary, Vymetalkova, Veronika, additional, Neves, Rui P.L., additional, Duran-Sanchon, Saray, additional, Vedeld, Hege Marie, additional, Tham, Emma, additional, van Dalum, Guus, additional, Flügen, Georg, additional, Garcia-Barberan, Vanesa, additional, Fijneman, Remond JA., additional, Castells, Antoni, additional, Vodicka, Pavel, additional, Lind, Guro E., additional, Stoecklein, Nikolas H., additional, Heitzer, Ellen, additional, and Gironella, Meritxell, additional
Published: 2019
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10. Additional file 3: of Tumor burden monitoring using cell-free tumor DNA could be limited by tumor heterogeneity in advanced breast cancer and should be evaluated together with radiographic imaging

Author: García-Saenz, José, Ayllón, Patricia, Laig, Marion, Acosta-Eyzaguirre, Daniel, García-Esquinas, Marta, Montes, Myriam, Sanz, Julián, Barquín, Miguel, Moreno, Fernando, Garcia-Barberan, Vanesa, Díaz-Rubio, Eduardo, Caldes, Trinidad, and Atocha Romero
Abstract: Performance of PIK3CA assays on cfDNA. Data from sample chips are displayed in a scatter plot based on color of FAM and VIC events. Plots A, C and E correspond to a negative samples. Plots B, D and F correspond to positive samples for the H1047R, E545K and E542K mutation respectively. The mutation is labeled with FAM (blue data points) whereas wild-type is labeled with VIC (red data points). Yellow cluster represent the no amplification cluster. (PPTX 153 kb)
Published: 2017
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11. Additional file 4: of Tumor burden monitoring using cell-free tumor DNA could be limited by tumor heterogeneity in advanced breast cancer and should be evaluated together with radiographic imaging

Author: García-Saenz, José, Ayllón, Patricia, Laig, Marion, Acosta-Eyzaguirre, Daniel, García-Esquinas, Marta, Montes, Myriam, Sanz, Julián, Barquín, Miguel, Moreno, Fernando, Garcia-Barberan, Vanesa, Díaz-Rubio, Eduardo, Caldes, Trinidad, and Atocha Romero
Abstract: Serial plasma PIK3CA mutation levels and treatment outcome, assessed according to RECIST criteria v.1.1. SD = stable disease, PR = partial response, PD = progressive disease of individual cases. (PPTX 78 kb)
Published: 2017
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12. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Author: Milne, Roger L., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Beesley, Jonathan, Kar, Siddhartha, Lindstrom, Sara, Hui, Shirley, Lemaçon, Audrey, Soucy, Penny, Dennis, Joe, Jiang, Xia, Rostamianfar, Asha, Finucane, Hilary, Bolla, Manjeet K., McGuffog, Lesley, Wang, Qin, Aalfs, Cora M., Abctctb, Investigators, Adams, Marcia, Adlard, Julian, Agata, Simona, Ahmed, Shahana, Ahsan, Habibul, Aittom, Kristiina Äki, Fares, Al Ejeh, Allen, Jamie, Ambrosone, Christine B., Amos, Christopher I., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Auber, Bernd, Auer, Paul L., Ausems, Margreet G.M., Azzollini, Jacopo, François, Bacot, Balma, Judith Nã, Barile, Monica, Barjhoux, Laure, Barkardottir, Rosa B., Barrdahl, Myrto, Barnes, Daniel, Barrowdale, Daniel, Baynes, Caroline, Beckmann, Matthias W., Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Bignon, Yves Jean, Blazer, Kathleen R., Blok, Marinus J., Blomqvist, Carl, Blot, William, Bobolis, Kristie, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Anders, Bojesen, Stig E., Bonanni, Bernardo, Anne-Lise, Børresen Dale, Bozsik, Aniko, Bradbury, Angela R., Brand, Judith S., Brauch, Hiltrud, Brenner, Hermann, Brigitte, Bressac De Paillerets, Brewer, Carole, Brinton, Louise, Broberg, Per, Angela, Brooks Wilson, Brunet, Joan, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S., Byun, Jinyoung, Cai, Qiuyin, Cald, Trinidad És, Caligo, Maria A., Campbell, Ian, Canzian, Federico, Caron, Olivier, Carracedo, Angel, Carter, Brian D., Esteban, Castelao, Castera, Laurent, Virginie, Caux Moncoutier, Chan, Salina B., Jenny, Chang Claude, Chanock, Stephen J., Chen, Xiaoqing, Cheng, Ting Yuan David, Chiquette, Jocelyne, Christiansen, Hans, Claes, Kathleen B., Clarke, Christine L., Conner, Thomas, Conroy, Don M., Cook, Jackie, Cordina-Duverger, Emilie, Cornelissen, Sten, Coupier, Isabelle, Cox, Angela, Cox, David G., Cross, Simon S., Cuk, Katarina, Cunningham, J. M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, Davidson, Rosemarie, Leeneer, Kim De L., Devilee, Peter, Dicks, Ed, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Doheny, Kimberly F., Domchek, Susan M., Dorfling, Cecilia M., Dörk, Thilo, Dos-Santos-Silva, Isabel, Dubois, Stéphane, Dugué, Pierre Antoine, Dumont, Martine, Dunning, Alison M., Durcan, Lorraine, Dwek, Miriam, Dworniczak, Bernd, Eccles, Diana, Eeles, Ros, Ehrencrona, Hans, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B., Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Faivre, Laurence, Fasching, Peter A., Faust, Ulrike, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foulkes, William D., Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gaddam, Pragna, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Barberan, Vanesa, Garciá-Saénz, José A., Gaudet, Mia M., Gauthier-Villars, Marion, Gehrig, Andrea, Georgoulias, Vassilios, Gerdes, Anne Marie, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Goodfellow, Paul, Greene, Mark H., Grenaker, Grethe Alnæs I., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Gschwantler, Daphne Kaulich, Guénel, Pascal, Guo, Qi, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hallberg, Emily, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Hansen, Thomas V., Harrington, Patricia, Hart, Steven N., Hartikainen, Jaana M., Healey, Catherine S., Hein, Alexander, Helbig, Sonja, Henderson, Alex, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Hodgson, Shirley, Hogervorst, Frans B., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Bob, Hopper, John L., Hu, Chunling, Huang, Guanmengqian, Hulick, Peter J., Humphreys, Keith, Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Iwasaki, Motoki, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, Jensen, Uffe Birk, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kast, Karin, Keeman, Renske, Kerin, Michael J., Kets, Carolien M., Keupers, Mac Hteld, Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kim, Sung Won, Knight, Julia A., Konstantopoulou, Irene, Kosma, Veli Matti, Kristensen, Vessela N., Kruse, Torben A., Kwong, Ava, Lænkholm, Anne Vibeke, Laitman, Yael, Lalloo, Fiona, Lambrechts, Diether, Landsman, Keren, Lasset, Christine, Lazaro, Conxi, Marchand, Loic Le, Lindström, Sara, Al-Ejeh, Fares, Margreet, G. M.Ausems, Bacot, François, Børresen-Dale, Anne Lise, Bressac-De, Brigitte Paillerets, Brooks-Wilson, Angela, Castelao, J. Esteban, Caux-Moncoutier, Virginie, Chang-Claude, Jenny, McLaes, Kathleen B., Leeneer, Kim De, Dieter, Flesch Janys, Gschwantler-Kaulich, Daphne, Keupers, MacHteld, Lecarpentier, Julie, Lee, Andrew, Lee, Eunjung, Won, Jong Lee, Lee, Min Hyuk, Lejbkowicz, Flavio, Lesueur, Fabienne, Li, Jingmei, Lilyquist, Jenna, Lincoln, Anne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing Yee, Loibl, Sibylle, Long, Jirong, Loud, Jennifer T., Lubinski, Jan, Luccarini, Craig, Lush, Michael, MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Kostovska, Ivana Maleva, Malone, Kathleen E., Siranoush, Manoukian, Manson, Joann E., Margolin, Sara, Martens, John W., Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, Mazoyer, Sylvie, McLean, Catriona, Meijers-Heijboer, Hanne, Menéndez, Primitiva, Meyer, Jeffery, Miao, Hui, Miller, Austin, Miller, Nicola, Mitchell, Gillian, Montagna, Marco, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Nadesan, Sue, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nevelsteen, Ines, Niederacher, Dieter, Nielsen, Sune F., Nordestgaard, Børge G., Norman, Aaron, Nussbaum, Robert L., Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Olswold, Curtis, Ong, Kai Ren, Oosterwijk, Jan C., Orr, Nick, Osorio, Ana, Pankratz, V. Shane, Papi, Laura, Park-Simon, Tjoung Won, Paulsson-Karlsson, Ylva, Lloyd, Rachel, Pedersen, Inge Søkilde, Peissel, Bernard, Peixoto, Ana, Perez, Jose I., Peterlongo, Paolo, Peto, Julian, Pfeiler, Georg, Phelan, Catherine M., Pinchev, Mila, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Porteous, Mary E., Prentice, Ross, Presneau, Nadege, Prokofieva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rennert, Hedy S., Rhenius, Valerie, Rhiem, Kerstin, Richardson, Andrea, Rodriguez, Gustavo C., Romero, Atocha, Romm, Jane, Rookus, Matti A., Rudolph, Anja, Ruediger, Thomas, Saloustros, Emmanouil, Sanders, Joyce, Sandler, Dale P., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Daniel F., Schoemaker, Minouk J., Schumacher, Fredrick, Schürmann, Peter, Schwentner, Lukas, Scott, Christopher, Scott, Rodney J., Seal, Sheila, Senter, Leigha, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen Yang, Sheng, Xin, Shimelis, Hermela, Shrubsole, Martha J., Shu, Xiao Ou, Side, Lucy E., Singer, Christian F., Sohn, Christof, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Surowy, Harald, Sutter, Christian, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla M., Tan, Yen Y., Taylor, Jack A., Tejada, Maria Isabel, Tengström, Maria, Teo, Soo H., Terry, Mary B., Tessier, Daniel C., Teul, Alex E., Thöne, Kathrin, Thull, Darcy L., Tibiletti, Maria Grazia, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A.M., Tomlinson, Ian, Tong, Ling, Torres, Diana, Tranchant, Martine, Truong, Thérèse, Tucker, Kathy, Tung, Nadine, Tyrer, Jonathan, Ulmer, Hans Ulrich, Vachon, Celine, Christi, Van Asperen J., Den Berg, David Van, Ouweland, Ans M.Vanden, Rensburg, Elizabeth J., Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vincent, Daniel, Vollenweider, Jason, Walker, Lisa, Wang, Zhaoming, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wesseling, Jelle, Whittemore, Alice S., Wijnen, Juul T., Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Xia, Lucy, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zaffaroni, Daniela, Zheng, Wei, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Zorn, Kristin K., Gago-Dominguez, Manuela, Mannermaa, Arto, Olsson, Håkan, Teixeira, Manuel R., Stone, Jennifer, Offit, Kenneth, Ottini, Laura, Park, Sue K., Thomassen, Mads, Hall, Per, Meindl, Alfons, Schmutzler, Rita K., Droit, Arnaud, Bader, Gary D., Pharoah, Paul D., Couch, Fergus J., Easton, Douglas F., Kraft, Peter, Chenevix-Trench, Georgia, Garciá-Closas, Montserrat, Schmidt, Marjanka K., Antoniou, Antonis C., Simard, Jacques, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Human Genetics, CCA - Cancer biology and immunology, Epidemiology and Data Science, Amsterdam Neuroscience - Complex Trait Genetics, Human genetics, Amsterdam Reproduction & Development (AR&D), Clinical Genetics, Medical Oncology, Internal Medicine, Obstetrics & Gynecology, MUMC+: DA KG Lab Centraal Lab (9), and RS: GROW - R4 - Reproductive and Perinatal Medicine
Subjects: 0301 basic medicine, Oncology, Estrogen receptor, Genome-wide association study, consortium, Gene mutation, DISEASE, Breast cancer, Risk Factors, Receptors, common variants, BRCA2 MUTATION CARRIERS, Medicine and Health Sciences, CONFER SUSCEPTIBILITY, skin and connective tissue diseases, ovarian cancers, BRCA1 Protein, COMMON VARIANTS, Single Nucleotide, OVARIAN CANCERS, 3. Good health, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Receptors, Estrogen, functional variants, Female, estrogen receptor, SNPs, EXPRESSION, medicine.medical_specialty, Heterozygote, SUSCEPTIBILITY LOCI, European Continental Ancestry Group, Breast cancer, estrogen receptor, SNPs, Single-nucleotide polymorphism, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, White People, Article, Càncer de mama, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Internal medicine, expression, medicine, Genetic predisposition, Genetics, Journal Article, Humans, Genetic Predisposition to Disease, ddc:610, Risk factor, Polymorphism, GENOME-WIDE ASSOCIATION, FUNCTIONAL VARIANTS, disease, CONSORTIUM, Case-control study, Biology and Life Sciences, medicine.disease, confer susceptibility, Estrogen, susceptibility loci, 030104 developmental biology, Mutation, genome-wide association, brca2 mutation carriers, Genome-Wide Association Study
Abstract: Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease1. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10−8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.
Published: 2017

13. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Author: Phelan, Catherine M. Kuchenbaecker, Karoline B. Tyrer, Jonathan P. Kar, Siddhartha P. Lawrenson, Kate Winham, Stacey J. and Dennis, Joe Pirie, Ailith Riggan, Marjorie J. Chornokur, Ganna Earp, Madalene A. Lyra, Jr., Paulo C. Lee, Janet M. and Coetzee, Simon Beesley, Jonathan McGuffog, Lesley Soucy, Penny Dicks, Ed Lee, Andrew Barrowdale, Daniel and Lecarpentier, Julie Leslie, Goska Aalfs, Cora M. Aben, Katja K. H. Adams, Marcia Adlard, Julian Andrulis, Irene L. and Anton-Culver, Hoda Antonenkova, Natalia Aravantinos, Gerasimos and Arnold, Norbert Arun, Banu K. Arver, Brita Azzollini, Jacopo Balmana, Judith Banerjee, Susana N. Barjhoux, Laure and Barkardottir, Rosa B. Bean, Yukie Beckmann, Matthias W. and Beeghly-Fadiel, Alicia Benitez, Javier Bermisheva, Marina and Bernardini, Marcus Q. Birrer, Michael J. Bjorge, Line Black, Amanda Blankstein, Kenneth Blok, Marinus J. Bodelon, Clara and Bogdanova, Natalia Bojesen, Anders Bonanni, Bernardo and Borg, Ake Bradbury, Angela R. Brenton, James D. Brewer, Carole Brinton, Louise Broberg, Per Brooks-Wilson, Angela and Bruinsma, Fiona Brunet, Joan Buecher, Bruno Butzow, Ralf and Buys, Saundra S. Caldes, Trinidad Caligo, Maria A. and Campbell, Ian Cannioto, Rikki Carney, Michael E. Cescon, Terence Chan, Salina B. Chang-Claude, Jenny Chanock, Stephen and Chen, Xiao Qing Chiew, Yoke-Eng Chiquette, Jocelyne and Chung, Wendy K. Claes, Kathleen B. M. Conner, Thomas Cook, Linda S. Cook, Jackie Cramer, Daniel W. Cunningham, Julie M. and D'Aloisio, Aimee A. Daly, Mary B. Damiola, Francesca and Damirovna, Sakaeva Dina Dansonka-Mieszkowska, Agnieszka Dao, Fanny Davidson, Rosemarie DeFazio, Anna Delnatte, Capucine and Doheny, Kimberly F. Diez, Orland Ding, Yuan Chun and Doherty, Jennifer Anne Domchek, Susan M. Dorfling, Cecilia M. and Dork, Thilo Dossus, Laure Duran, Mercedes Durst, Matthias Dworniczak, Bernd Eccles, Diana Edwards, Todd and Eeles, Ros Eilber, Ursula Ejlertsen, Bent Ekici, Arif B. and Ellis, Steve Elvira, Mingajeva Eng, Kevin H. Engel, Christoph Evans, D. Gareth Fasching, Peter A. Ferguson, Sarah Ferrer, Sandra Fert Flanagan, James M. Fogarty, Zachary C. Fortner, Renee T. Fostira, Florentia Foulkes, William D. Fountzilas, George Fridley, Brooke L. Friebel, Tara M. Friedman, Eitan Frost, Debra Ganz, Patricia A. and Garber, Judy Garcia, Maria J. Garcia-Barberan, Vanesa and Gehrig, Andrea Gentry-Maharaj, Aleksandra Gerdes, Anne-Marie and Giles, Graham G. Glasspool, Rosalind Glendon, Gord Godwin, Andrew K. Goldgar, David E. Goranova, Teodora Gore, Martin and Greene, Mark H. Gronwald, Jacek Gruber, Stephen Hahnen, Eric Haiman, Christopher A. Hakansson, Niclas Hamann, Ute and Hansen, Thomas V. O. Harrington, Patricia A. Harris, Holly R. Hauke, Jan Hein, Alexander Henderson, Alex and Hildebrandt, Michelle A. T. Hillemanns, Peter Hodgson, Shirley and Hogdall, Claus K. Hogdall, Estrid Hogervorst, Frans B. L. and Holland, Helene Hooning, Maartje J. Hosking, Karen and Huang, Ruea-Yea Hulick, Peter J. Hung, Jillian Hunter, David J. Huntsman, David G. Huzarski, Tomasz Imyanitov, Evgeny N. and Isaacs, Claudine Iversen, Edwin S. Izatt, Louise and Izquierdo, Angel Jakubowska, Anna James, Paul Janavicius, Ramunas Jernetz, Mats Jensen, Allan Jensen, Uffe Birk and John, Esther M. Johnatty, Sharon Jones, Michael E. Kannisto, Paivi Karlan, Beth Y. Karnezis, Anthony Kast, Karin and Kennedy, Catherine J. Khusnutdinova, Elza Kiemeney, Lambertus A. and Kiiski, Johanna I. Kim, Sung-Won Kjaer, Susanne K. and Kobel, Martin Kopperud, Reidun K. Kruse, Torben A. and Kupryjanczyk, Jolanta Kwong, Ava Laitman, Yael Lambrechts, Diether Larranaga, Nerea Larson, Melissa C. Lazaro, Conxi and Le, Nhu D. Le Marchand, Loic Lee, Jong Won Lele, Shashikant B. Leminen, Arto Leroux, Dominique Lester, Jenny and Lesueur, Fabienne Levine, Douglas A. Liang, Dong and Liebrich, Clemens Lilyquist, Jenna Lipworth, Loren and Lissowska, Jolanta Lu, Karen H. Lubinski, Jan Luccarini, Craig Lundvall, Lene Mai, Phuong L. Mendoza-Fandino, Gustavo and Manoukian, Siranoush Massuger, Leon F. A. G. May, Taymaa and Mazoyer, Sylvie McAlpine, Jessica N. McGuire, Valerie and McLaughlin, John R. McNeish, Iain Meijers-Heijboer, Hanne and Meindl, Alfons Menon, Usha Mensenkamp, Arjen R. Merritt, Melissa A. Milne, Roger L. Mitchell, Gillian Modugno, Francesmary Moes-Sosnowska, Joanna Moffitt, Melissa and Montagna, Marco Moysich, Kirsten B. Mulligan, Anna Marie and Musinsky, Jacob Nathanson, Katherine L. Nedergaard, Lotte and Ness, Roberta B. Neuhausen, Susan L. Nevanlinna, Heli and Niederacher, Dieter Nussbaum, Robert L. Odunsi, Kunle Olah, Edith Olopade, Olufunmilayo I. Olsson, Hakan Olswold, Curtis and O'Malley, David M. Ong, Kai-ren Onland-Moret, N. Charlotte and Orr, Nicholas Orsulic, Sandra Osorio, Ana Palli, Domenico Papi, Laura Park-Simon, Tjoung-Won Paul, James and Pearce, Celeste L. Pedersen, Inge Sokilde Peeters, Petra H. M. and Peissel, Bernard Peixoto, Ana Pejovic, Tanja Pelttari, Liisa M. Permuth, Jennifer B. Peterlongo, Paolo Pezzani, Lidia Pfeiler, Georg Phillips, Kelly-Anne Piedmonte, Marion and Pike, Malcolm C. Piskorz, Anna M. Poblete, Samantha R. and Pocza, Timea Poole, Elizabeth M. Poppe, Bruce Porteous, Mary E. Prieur, Fabienne Prokofyeva, Darya Pugh, Elizabeth and Pujana, Miquel Angel Pujol, Pascal Radice, Paolo Rantala, Johanna Rappaport-Fuerhauser, Christine Rennert, Gad Rhiem, Kerstin Rice, Patricia Richardson, Andrea Robson, Mark and Rodriguez, Gustavo C. Rodriguez-Antona, Cristina Romm, Jane and Rookus, Matti A. Rossing, Mary Anne Rothstein, Joseph H. and Rudolph, Anja Runnebaum, Ingo B. Salvesen, Helga B. Sandler, Dale P. Schoemaker, Minouk J. Senter, Leigha Setiawan, V. Wendy Severi, Gianluca Sharma, Priyanka Shelford, Tameka and Siddiqui, Nadeem Side, Lucy E. Sieh, Weiva Singer, Christian F. Sobol, Hagay Song, Honglin Southey, Melissa C. and Spurdle, Amanda B. Stadler, Zsofia Steinemann, Doris and Stoppa-Lyonnet, Dominique Sucheston-Campbell, Lara E. and Sukiennicki, Grzegorz Sutphen, Rebecca Sutter, Christian and Swerdlow, Anthony J. Szabo, Csilla I. Szafron, Lukasz Tan, Yen Y. Taylor, Jack A. Tea, Muy-Kheng Teixeira, Manuel R. and Teo, Soo-Hwang Terry, Kathryn L. Thompson, Pamela J. and Thomsen, Liv Cecilie Vestrheim Thull, Darcy L. Tihomirova, Laima and Tinker, Anna V. Tischkowitz, Marc Tognazzo, Silvia and Toland, Amanda Ewart Tone, Alicia Trabert, Britton Travis, Ruth C. Trichopoulou, Antonia Tung, Nadine Tworoger, Shelley S. Van Altena, Anne M. Van den Berg, David van der Hout, Annemarie H. van der Luijt, Rob B. Van Heetvelde, Mattias and Van Nieuwenhuysen, Els Van Rensburg, Elizabeth J. and Vanderstichele, Adriaan Varon-Mateeva, Raymonda Vega, Ana and Edwards, Digna Velez Vergote, Ignace Vierkant, Robert A. and Vijai, Joseph Vratimos, Athanassios Walker, Lisa Walsh, Christine Wand, Dorothea Wang-Gohrke, Shan Wappenschmidt, Barbara Webb, Penelope M. Weinberg, Clarice R. Weitzel, Jeffrey N. Wentzensen, Nicolas Whittemore, Alice S. Wijnen, Juul T. Wilkens, Lynne R. Wolk, Alicja Woo, Michelle Wu, Xifeng Wu, Anna H. Yang, Hannah Yannoukakos, Drakoulis and Ziogas, Argyrios Zorn, Kristin K. Narod, Steven A. Easton, Douglas F. Amos, Christopher I. Schildkraut, Joellen M. and Ramus, Susan J. Ottini, Laura Goodman, Marc T. Park-, Sue K. and Kelemen, Linda E. Risch, Harvey A. Thomassen, Mads and Offit, Kenneth Simard, Jacques Schmutzler, Rita Katharina and Hazelett, Dennis Monteiro, Alvaro N. Couch, Fergus J. and Berchuck, Andrew Chenevix-Trench, Georgia Goode, Ellen L. and Sellers, Thomas A. Gayther, Simon A. Antoniou, Antonis C. and Pharoah, Paul D. P. AOCS Study Grp EMEMBRACE Study GEMO Study Collaborators HEBON Study KConFab Investigators OPAL Study Grp
Subjects: endocrine system diseases, female genital diseases and pregnancy complications
Abstract: To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3 and 9q31.1) and one for endometrioid EOC (5q12.3). We then performed meta-analysis on the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers, including 3,887 mutation carriers with EOC. This identified three additional susceptibility loci at 2q13, 8q24.1 and 12q24.31. Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC.
Published: 2017

14. Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition

Author: Martin-Morales, Lorena, primary, Rofes, Paula, additional, Diaz-Rubio, Eduardo, additional, Llovet, Patricia, additional, Lorca, Victor, additional, Bando, Inmaculada, additional, Perez-Segura, Pedro, additional, de la Hoya, Miguel, additional, Garre, Pilar, additional, Garcia-Barberan, Vanesa, additional, and Caldes, Trinidad, additional
Published: 2018
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15. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

Author: Milne, Roger L, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Beesley, Jonathan, Kar, Siddhartha, Lindström, Sara, Hui, Shirley, Lemaçon, Audrey, Soucy, Penny, Dennis, Joe, Jiang, Xia, Rostamianfar, Asha, Finucane, Hilary, Bolla, Manjeet K, McGuffog, Lesley, Wang, Qin, Aalfs, Cora M, Adams, Marcia, Adlard, Julian, Agata, Simona, Ahmed, Shahana, Ahsan, Habibul, Aittomäki, Kristiina, Al-Ejeh, Fares, Allen, Jamie, Ambrosone, Christine B, Amos, Christopher I, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J, Auber, Bernd, Auer, Paul L, Ausems, Margreet G E M, Azzollini, Jacopo, Bacot, François, Balmaña, Judith, Barile, Monica, Barjhoux, Laure, Barkardottir, Rosa B, Barrdahl, Myrto, Barnes, Daniel, Barrowdale, Daniel, Baynes, Caroline, Beckmann, Matthias W, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Bignon, Yves-Jean, Blazer, Kathleen R, Blok, Marinus J, Blomqvist, Carl, Blot, William, Bobolis, Kristie, Boeckx, Bram, Bogdanova, Natalia V, Bojesen, Anders, Bojesen, Stig E, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Bozsik, Aniko, Bradbury, Angela R, Brand, Judith S, Brauch, Hiltrud, Brenner, Hermann, Bressac-de Paillerets, Brigitte, Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Brunet, Joan, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Byun, Jinyoung, Cai, Qiuyin, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Canzian, Federico, Caron, Olivier, Carracedo, Angel, Carter, Brian D, Castelao, J Esteban, Castera, Laurent, Caux-Moncoutier, Virginie, Chan, Salina B, Chang-Claude, Jenny, Chanock, Stephen J, Chen, Xiaoqing, Cheng, Ting-Yuan David, Chiquette, Jocelyne, Christiansen, Hans, Claes, Kathleen B M, Clarke, Christine L, Conner, Thomas, Conroy, Don M, Cook, Jackie, Cordina-Duverger, Emilie, Cornelissen, Sten, Coupier, Isabelle, Cox, Angela, Cox, David G, Cross, Simon S, Cuk, Katarina, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, Davidson, Rosemarie, De Leeneer, Kim, Devilee, Peter, Dicks, Ed, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Doheny, Kimberly F, Domchek, Susan M, Dorfling, Cecilia M, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dubois, Stéphane, Dugué, Pierre-Antoine, Dumont, Martine, Dunning, Alison M, Durcan, Lorraine, Dwek, Miriam, Dworniczak, Bernd, Eccles, Diana, Eeles, Ros, Ehrencrona, Hans, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B, Eliassen, A Heather, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Faivre, Laurence, Fasching, Peter A, Faust, Ulrike, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foulkes, William D, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gaddam, Pragna, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Garcia-Barberan, Vanesa, García-Sáenz, José A, Gaudet, Mia M, Gauthier-Villars, Marion, Gehrig, Andrea, Georgoulias, Vassilios, Gerdes, Anne-Marie, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Goodfellow, Paul, Greene, Mark H, Alnæs, Grethe I Grenaker, Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Gschwantler-Kaulich, Daphne, Guénel, Pascal, Guo, Qi, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hallberg, Emily, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Hansen, Thomas V O, Harrington, Patricia, Hart, Steven N, Hartikainen, Jaana M, Healey, Catherine S, Hein, Alexander, Helbig, Sonja, Henderson, Alex, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Hodgson, Shirley, Hogervorst, Frans B, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Bob, Hopper, John L, Hu, Chunling, Huang, Guanmengqian, Hulick, Peter J, Humphreys, Keith, Hunter, David J, Imyanitov, Evgeny N, Isaacs, Claudine, Iwasaki, Motoki, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, Jensen, Uffe Birk, John, Esther M, Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kast, Karin, Keeman, Renske, Kerin, Michael J, Kets, Carolien M, Keupers, Machteld, Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I, Kim, Sung-Won, Knight, Julia A, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela N, Kruse, Torben A, Kwong, Ava, Lænkholm, Anne-Vibeke, Laitman, Yael, Lalloo, Fiona, Lambrechts, Diether, Landsman, Keren, Lasset, Christine, Lazaro, Conxi, Le Marchand, Loic, Lecarpentier, Julie, Lee, Andrew, Lee, Eunjung, Lee, Jong Won, Lee, Min Hyuk, Lejbkowicz, Flavio, Lesueur, Fabienne, Li, Jingmei, Lilyquist, Jenna, Lincoln, Anne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Loud, Jennifer T, Lubinski, Jan, Luccarini, Craig, Lush, Michael, MacInnis, Robert J, Maishman, Tom, Makalic, Enes, Kostovska, Ivana Maleva, Malone, Kathleen E, Manoukian, Siranoush, Manson, JoAnn E, Margolin, Sara, Martens, John W M, Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, Mazoyer, Sylvie, McLean, Catriona, Meijers-Heijboer, Hanne, Menéndez, Primitiva, Meyer, Jeffery, Miao, Hui, Miller, Austin, Miller, Nicola, Mitchell, Gillian, Montagna, Marco, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Nadesan, Sue, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nevelsteen, Ines, Niederacher, Dieter, Nielsen, Sune F, Nordestgaard, Børge G, Norman, Aaron, Nussbaum, Robert L, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Olswold, Curtis, Ong, Kai-Ren, Oosterwijk, Jan C, Orr, Nick, Osorio, Ana, Pankratz, V Shane, Papi, Laura, Park-Simon, Tjoung-Won, Paulsson-Karlsson, Ylva, Lloyd, Rachel, Pedersen, Inge Søkilde, Peissel, Bernard, Peixoto, Ana, Perez, Jose I A, Peterlongo, Paolo, Peto, Julian, Pfeiler, Georg, Phelan, Catherine M, Pinchev, Mila, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Porteous, Mary E, Prentice, Ross, Presneau, Nadege, Prokofieva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rennert, Hedy S, Rhenius, Valerie, Rhiem, Kerstin, Richardson, Andrea, Rodriguez, Gustavo C, Romero, Atocha, Romm, Jane, Rookus, Matti A, Rudolph, Anja, Ruediger, Thomas, Saloustros, Emmanouil, Sanders, Joyce, Sandler, Dale P, Sangrajrang, Suleeporn, Sawyer, Elinor J, Schmidt, Daniel F, Schoemaker, Minouk J, Schumacher, Fredrick, Schürmann, Peter, Schwentner, Lukas, Scott, Christopher, Scott, Rodney J, Seal, Sheila, Senter, Leigha, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Xin, Shimelis, Hermela, Shrubsole, Martha J, Shu, Xiao-Ou, Side, Lucy E, Singer, Christian F, Sohn, Christof, Southey, Melissa C, Spinelli, John J, Spurdle, Amanda B, Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Surowy, Harald, Sutter, Christian, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla M, Tan, Yen Y, Taylor, Jack A, Tejada, Maria-Isabel, Tengström, Maria, Teo, Soo H, Terry, Mary B, Tessier, Daniel C, Teulé, Alex, Thöne, Kathrin, Thull, Darcy L, Tibiletti, Maria Grazia, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda E, Tollenaar, Rob A E M, Tomlinson, Ian, Tong, Ling, Torres, Diana, Tranchant, Martine, Truong, Thérèse, Tucker, Kathy, Tung, Nadine, Tyrer, Jonathan, Ulmer, Hans-Ulrich, Vachon, Celine, van Asperen, Christi J, Van Den Berg, David, van den Ouweland, Ans M W, van Rensburg, Elizabeth J, Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vincent, Daniel, Vollenweider, Jason, Walker, Lisa, Wang, Zhaoming, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weinberg, Clarice R, Weitzel, Jeffrey N, Wendt, Camilla, Wesseling, Jelle, Whittemore, Alice S, Wijnen, Juul T, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H, Xia, Lucy, Yang, Xiaohong R, Yannoukakos, Drakoulis, Zaffaroni, Daniela, Zheng, Wei, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Zorn, Kristin K, Gago-Dominguez, Manuela, Mannermaa, Arto, Olsson, Håkan, Teixeira, Manuel R, Stone, Jennifer, Offit, Kenneth, Ottini, Laura, Park, Sue K, Thomassen, Mads, Hall, Per, Meindl, Alfons, Schmutzler, Rita K, Droit, Arnaud, Bader, Gary D, Pharoah, Paul D P, Couch, Fergus J, Easton, Douglas F, Kraft, Peter, Chenevix-Trench, Georgia, García-Closas, Montserrat, Schmidt, Marjanka K, Antoniou, Antonis C, Simard, Jacques, Milne, Roger L, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Beesley, Jonathan, Kar, Siddhartha, Lindström, Sara, Hui, Shirley, Lemaçon, Audrey, Soucy, Penny, Dennis, Joe, Jiang, Xia, Rostamianfar, Asha, Finucane, Hilary, Bolla, Manjeet K, McGuffog, Lesley, Wang, Qin, Aalfs, Cora M, Adams, Marcia, Adlard, Julian, Agata, Simona, Ahmed, Shahana, Ahsan, Habibul, Aittomäki, Kristiina, Al-Ejeh, Fares, Allen, Jamie, Ambrosone, Christine B, Amos, Christopher I, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J, Auber, Bernd, Auer, Paul L, Ausems, Margreet G E M, Azzollini, Jacopo, Bacot, François, Balmaña, Judith, Barile, Monica, Barjhoux, Laure, Barkardottir, Rosa B, Barrdahl, Myrto, Barnes, Daniel, Barrowdale, Daniel, Baynes, Caroline, Beckmann, Matthias W, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Bignon, Yves-Jean, Blazer, Kathleen R, Blok, Marinus J, Blomqvist, Carl, Blot, William, Bobolis, Kristie, Boeckx, Bram, Bogdanova, Natalia V, Bojesen, Anders, Bojesen, Stig E, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Bozsik, Aniko, Bradbury, Angela R, Brand, Judith S, Brauch, Hiltrud, Brenner, Hermann, Bressac-de Paillerets, Brigitte, Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Brunet, Joan, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Byun, Jinyoung, Cai, Qiuyin, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Canzian, Federico, Caron, Olivier, Carracedo, Angel, Carter, Brian D, Castelao, J Esteban, Castera, Laurent, Caux-Moncoutier, Virginie, Chan, Salina B, Chang-Claude, Jenny, Chanock, Stephen J, Chen, Xiaoqing, Cheng, Ting-Yuan David, Chiquette, Jocelyne, Christiansen, Hans, Claes, Kathleen B M, Clarke, Christine L, Conner, Thomas, Conroy, Don M, Cook, Jackie, Cordina-Duverger, Emilie, Cornelissen, Sten, Coupier, Isabelle, Cox, Angela, Cox, David G, Cross, Simon S, Cuk, Katarina, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, Davidson, Rosemarie, De Leeneer, Kim, Devilee, Peter, Dicks, Ed, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Doheny, Kimberly F, Domchek, Susan M, Dorfling, Cecilia M, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dubois, Stéphane, Dugué, Pierre-Antoine, Dumont, Martine, Dunning, Alison M, Durcan, Lorraine, Dwek, Miriam, Dworniczak, Bernd, Eccles, Diana, Eeles, Ros, Ehrencrona, Hans, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B, Eliassen, A Heather, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Faivre, Laurence, Fasching, Peter A, Faust, Ulrike, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foulkes, William D, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gaddam, Pragna, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Garcia-Barberan, Vanesa, García-Sáenz, José A, Gaudet, Mia M, Gauthier-Villars, Marion, Gehrig, Andrea, Georgoulias, Vassilios, Gerdes, Anne-Marie, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Goodfellow, Paul, Greene, Mark H, Alnæs, Grethe I Grenaker, Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Gschwantler-Kaulich, Daphne, Guénel, Pascal, Guo, Qi, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hallberg, Emily, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Hansen, Thomas V O, Harrington, Patricia, Hart, Steven N, Hartikainen, Jaana M, Healey, Catherine S, Hein, Alexander, Helbig, Sonja, Henderson, Alex, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Hodgson, Shirley, Hogervorst, Frans B, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Bob, Hopper, John L, Hu, Chunling, Huang, Guanmengqian, Hulick, Peter J, Humphreys, Keith, Hunter, David J, Imyanitov, Evgeny N, Isaacs, Claudine, Iwasaki, Motoki, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, Jensen, Uffe Birk, John, Esther M, Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kast, Karin, Keeman, Renske, Kerin, Michael J, Kets, Carolien M, Keupers, Machteld, Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I, Kim, Sung-Won, Knight, Julia A, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela N, Kruse, Torben A, Kwong, Ava, Lænkholm, Anne-Vibeke, Laitman, Yael, Lalloo, Fiona, Lambrechts, Diether, Landsman, Keren, Lasset, Christine, Lazaro, Conxi, Le Marchand, Loic, Lecarpentier, Julie, Lee, Andrew, Lee, Eunjung, Lee, Jong Won, Lee, Min Hyuk, Lejbkowicz, Flavio, Lesueur, Fabienne, Li, Jingmei, Lilyquist, Jenna, Lincoln, Anne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Loud, Jennifer T, Lubinski, Jan, Luccarini, Craig, Lush, Michael, MacInnis, Robert J, Maishman, Tom, Makalic, Enes, Kostovska, Ivana Maleva, Malone, Kathleen E, Manoukian, Siranoush, Manson, JoAnn E, Margolin, Sara, Martens, John W M, Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, Mazoyer, Sylvie, McLean, Catriona, Meijers-Heijboer, Hanne, Menéndez, Primitiva, Meyer, Jeffery, Miao, Hui, Miller, Austin, Miller, Nicola, Mitchell, Gillian, Montagna, Marco, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Nadesan, Sue, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nevelsteen, Ines, Niederacher, Dieter, Nielsen, Sune F, Nordestgaard, Børge G, Norman, Aaron, Nussbaum, Robert L, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Olswold, Curtis, Ong, Kai-Ren, Oosterwijk, Jan C, Orr, Nick, Osorio, Ana, Pankratz, V Shane, Papi, Laura, Park-Simon, Tjoung-Won, Paulsson-Karlsson, Ylva, Lloyd, Rachel, Pedersen, Inge Søkilde, Peissel, Bernard, Peixoto, Ana, Perez, Jose I A, Peterlongo, Paolo, Peto, Julian, Pfeiler, Georg, Phelan, Catherine M, Pinchev, Mila, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Porteous, Mary E, Prentice, Ross, Presneau, Nadege, Prokofieva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rennert, Hedy S, Rhenius, Valerie, Rhiem, Kerstin, Richardson, Andrea, Rodriguez, Gustavo C, Romero, Atocha, Romm, Jane, Rookus, Matti A, Rudolph, Anja, Ruediger, Thomas, Saloustros, Emmanouil, Sanders, Joyce, Sandler, Dale P, Sangrajrang, Suleeporn, Sawyer, Elinor J, Schmidt, Daniel F, Schoemaker, Minouk J, Schumacher, Fredrick, Schürmann, Peter, Schwentner, Lukas, Scott, Christopher, Scott, Rodney J, Seal, Sheila, Senter, Leigha, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Xin, Shimelis, Hermela, Shrubsole, Martha J, Shu, Xiao-Ou, Side, Lucy E, Singer, Christian F, Sohn, Christof, Southey, Melissa C, Spinelli, John J, Spurdle, Amanda B, Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Surowy, Harald, Sutter, Christian, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla M, Tan, Yen Y, Taylor, Jack A, Tejada, Maria-Isabel, Tengström, Maria, Teo, Soo H, Terry, Mary B, Tessier, Daniel C, Teulé, Alex, Thöne, Kathrin, Thull, Darcy L, Tibiletti, Maria Grazia, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda E, Tollenaar, Rob A E M, Tomlinson, Ian, Tong, Ling, Torres, Diana, Tranchant, Martine, Truong, Thérèse, Tucker, Kathy, Tung, Nadine, Tyrer, Jonathan, Ulmer, Hans-Ulrich, Vachon, Celine, van Asperen, Christi J, Van Den Berg, David, van den Ouweland, Ans M W, van Rensburg, Elizabeth J, Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vincent, Daniel, Vollenweider, Jason, Walker, Lisa, Wang, Zhaoming, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weinberg, Clarice R, Weitzel, Jeffrey N, Wendt, Camilla, Wesseling, Jelle, Whittemore, Alice S, Wijnen, Juul T, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H, Xia, Lucy, Yang, Xiaohong R, Yannoukakos, Drakoulis, Zaffaroni, Daniela, Zheng, Wei, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Zorn, Kristin K, Gago-Dominguez, Manuela, Mannermaa, Arto, Olsson, Håkan, Teixeira, Manuel R, Stone, Jennifer, Offit, Kenneth, Ottini, Laura, Park, Sue K, Thomassen, Mads, Hall, Per, Meindl, Alfons, Schmutzler, Rita K, Droit, Arnaud, Bader, Gary D, Pharoah, Paul D P, Couch, Fergus J, Easton, Douglas F, Kraft, Peter, Chenevix-Trench, Georgia, García-Closas, Montserrat, Schmidt, Marjanka K, Antoniou, Antonis C, and Simard, Jacques
Abstract: Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10-8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.
Published: 2017
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16. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Author: Phelan, Catherine M., Kuchenbaecker, Karoline B., Tyrer, Jonathan P., Kar, Siddhartha P., Lawrenson, Kate, Winham, Stacey J., Dennis, Joe, Pirie, Ailith, Riggan, Marjorie J., Chornokur, Ganna, Earp, Madalene A., Lyra, Paulo C., Jr., Lee, Janet M., Coetzee, Simon, Beesley, Jonathan, McGuffog, Lesley, Soucy, Penny, Dicks, Ed, Lee, Andrew, Barrowdale, Daniel, Lecarpentier, Julie, Leslie, Goska, Aalfs, Cora M., Aben, Katja K. H., Adams, Marcia, Adlard, Julian, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia, Aravantinos, Gerasimos, Arnold, Norbert, Arun, Banu K., Arver, Brita, Azzollini, Jacopo, Balmana, Judith, Banerjee, Susana N., Barjhoux, Laure, Barkardottir, Rosa B., Bean, Yukie, Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bernardini, Marcus Q., Birrer, Michael J., Bjorge, Line, Black, Amanda, Blankstein, Kenneth, Blok, Marinus J., Bodelon, Clara, Bogdanova, Natalia, Bojesen, Anders, Bonanni, Bernardo, Borg, Ake, Bradbury, Angela R., Brenton, James D., Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Bruinsma, Fiona, Brunet, Joan, Buecher, Bruno, Butzow, Ralf, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Cannioto, Rikki, Carney, Michael E., Cescon, Terence, Chan, Salina B., Chang-Claude, Jenny, Chanock, Stephen, Chen, Xiao Qing, Chiew, Yoke-Eng, Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Conner, Thomas, Cook, Linda S., Cook, Jackie, Cramer, Daniel W., Cunningham, Julie M., D'Aloisio, Aimee A., Daly, Mary B., Damiola, Francesca, Damirovna, Sakaeva Dina, Dansonka-Mieszkowska, Agnieszka, Dao, Fanny, Davidson, Rosemarie, DeFazio, Anna, Delnatte, Capucine, Doheny, Kimberly F., Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer Anne, Domchek, Susan M., Dorfling, Cecilia M., Dork, Thilo, Dossus, Laure, Duran, Mercedes, Durst, Matthias, Dworniczak, Bernd, Eccles, Diana, Edwards, Todd, Eeles, Ros, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B., Ellis, Steve, Elvira, Mingajeva, Eng, Kevin H., Engel, Christoph, Evans, D. Gareth, Fasching, Peter A., Ferguson, Sarah, Ferrer, Sandra Fert, Flanagan, James M., Fogarty, Zachary C., Fortner, Renee T., Fostira, Florentia, Foulkes, William D., Fountzilas, George, Fridley, Brooke L., Friebel, Tara M., Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Garcia, Maria J., Garcia-Barberan, Vanesa, Gehrig, Andrea, Gentry-Maharaj, Aleksandra, Gerdes, Anne-Marie, Giles, Graham G., Glasspool, Rosalind, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Goranova, Teodora, Gore, Martin, Greene, Mark H., Gronwald, Jacek, Gruber, Stephen, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hamann, Ute, Hansen, Thomas V. O., Harrington, Patricia A., Harris, Holly R., Hauke, Jan, Hein, Alexander, Henderson, Alex, Hildebrandt, Michelle A. T., Hillemanns, Peter, Hodgson, Shirley, Hogdall, Claus K., Hogdall, Estrid, Hogervorst, Frans B. L., Holland, Helene, Hooning, Maartje J., Hosking, Karen, Huang, Ruea-Yea, Hulick, Peter J., Hung, Jillian, Hunter, David J., Huntsman, David G., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Iversen, Edwin S., Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jernetz, Mats, Jensen, Allan, Jensen, Uffe Birk, John, Esther M., Johnatty, Sharon, Jones, Michael E., Kannisto, Paivi, Karlan, Beth Y., Karnezis, Anthony, Kast, Karin, Kennedy, Catherine J., Khusnutdinova, Elza, Kiemeney, Lambertus A., Kiiski, Johanna I., Kim, Sung-Won, Kjaer, Susanne K., Kobel, Martin, Kopperud, Reidun K., Kruse, Torben A., Kupryjanczyk, Jolanta, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Larranaga, Nerea, Larson, Melissa C., Lazaro, Conxi, Le, Nhu D., Le Marchand, Loic, Lee, Jong Won, Lele, Shashikant B., Leminen, Arto, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A., Liang, Dong, Liebrich, Clemens, Lilyquist, Jenna, Lipworth, Loren, Lissowska, Jolanta, Lu, Karen H., Lubinski, Jan, Luccarini, Craig, Lundvall, Lene, Mai, Phuong L., Mendoza-Fandino, Gustavo, Manoukian, Siranoush, Massuger, Leon F. A. G., May, Taymaa, Mazoyer, Sylvie, McAlpine, Jessica N., McGuire, Valerie, McLaughlin, John R., McNeish, Iain, Meijers-Heijboer, Hanne, Meindl, Alfons, Menon, Usha, Mensenkamp, Arjen R., Merritt, Melissa A., Milne, Roger L., Mitchell, Gillian, Modugno, Francesmary, Moes-Sosnowska, Joanna, Moffitt, Melissa, Montagna, Marco, Moysich, Kirsten B., Mulligan, Anna Marie, Musinsky, Jacob, Nathanson, Katherine L., Nedergaard, Lotte, Ness, Roberta B., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L., Odunsi, Kunle, Olah, Edith, Olopade, Olufunmilayo I., Olsson, Hakan, Olswold, Curtis, O'Malley, David M., Ong, Kai-ren, Onland-Moret, N. Charlotte, Orr, Nicholas, Orsulic, Sandra, Osorio, Ana, Palli, Domenico, Papi, Laura, Park-Simon, Tjoung-Won, Paul, James, Pearce, Celeste L., Pedersen, Inge Sokilde, Peeters, Petra H. M., Peissel, Bernard, Peixoto, Ana, Pejovic, Tanja, Pelttari, Liisa M., Permuth, Jennifer B., Peterlongo, Paolo, Pezzani, Lidia, Pfeiler, Georg, Phillips, Kelly-Anne, Piedmonte, Marion, Pike, Malcolm C., Piskorz, Anna M., Poblete, Samantha R., Pocza, Timea, Poole, Elizabeth M., Poppe, Bruce, Porteous, Mary E., Prieur, Fabienne, Prokofyeva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pujol, Pascal, Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rhiem, Kerstin, Rice, Patricia, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C., Rodriguez-Antona, Cristina, Romm, Jane, Rookus, Matti A., Rossing, Mary Anne, Rothstein, Joseph H., Rudolph, Anja, Runnebaum, Ingo B., Salvesen, Helga B., Sandler, Dale P., Schoemaker, Minouk J., Senter, Leigha, Setiawan, V. Wendy, Severi, Gianluca, Sharma, Priyanka, Shelford, Tameka, Siddiqui, Nadeem, Side, Lucy E., Sieh, Weiva, Singer, Christian F., Sobol, Hagay, Song, Honglin, Southey, Melissa C., Spurdle, Amanda B., Stadler, Zsofia, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sucheston-Campbell, Lara E., Sukiennicki, Grzegorz, Sutphen, Rebecca, Sutter, Christian, Swerdlow, Anthony J., Szabo, Csilla I., Szafron, Lukasz, Tan, Yen Y., Taylor, Jack A., Tea, Muy-Kheng, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Kathryn L., Thompson, Pamela J., Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L., Tihomirova, Laima, Tinker, Anna V., Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tone, Alicia, Trabert, Britton, Travis, Ruth C., Trichopoulou, Antonia, Tung, Nadine, Tworoger, Shelley S., Van Altena, Anne M., Van den Berg, David, van der Hout, Annemarie H., van der Luijt, Rob B., Van Heetvelde, Mattias, Van Nieuwenhuysen, Els, Van Rensburg, Elizabeth J., Vanderstichele, Adriaan, Varon-Mateeva, Raymonda, Vega, Ana, Edwards, Digna Velez, Vergote, Ignace, Vierkant, Robert A., Vijai, Joseph, Vratimos, Athanassios, Walker, Lisa, Walsh, Christine, Wand, Dorothea, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Webb, Penelope M., Weinberg, Clarice R., Weitzel, Jeffrey N., Wentzensen, Nicolas, Whittemore, Alice S., Wijnen, Juul T., Wilkens, Lynne R., Wolk, Alicja, Woo, Michelle, Wu, Xifeng, Wu, Anna H., Yang, Hannah, Yannoukakos, Drakoulis, Ziogas, Argyrios, Zorn, Kristin K., Narod, Steven A., Easton, Douglas F., Amos, Christopher I., Schildkraut, Joellen M., Ramus, Susan J., Ottini, Laura, Goodman, Marc T., Park-, Sue K., Kelemen, Linda E., Risch, Harvey A., Thomassen, Mads, Offit, Kenneth, Simard, Jacques, Schmutzler, Rita Katharina, Hazelett, Dennis, Monteiro, Alvaro N., Couch, Fergus J., Berchuck, Andrew, Chenevix-Trench, Georgia, Goode, Ellen L., Sellers, Thomas A., Gayther, Simon A., Antoniou, Antonis C., Pharoah, Paul D. P., Phelan, Catherine M., Kuchenbaecker, Karoline B., Tyrer, Jonathan P., Kar, Siddhartha P., Lawrenson, Kate, Winham, Stacey J., Dennis, Joe, Pirie, Ailith, Riggan, Marjorie J., Chornokur, Ganna, Earp, Madalene A., Lyra, Paulo C., Jr., Lee, Janet M., Coetzee, Simon, Beesley, Jonathan, McGuffog, Lesley, Soucy, Penny, Dicks, Ed, Lee, Andrew, Barrowdale, Daniel, Lecarpentier, Julie, Leslie, Goska, Aalfs, Cora M., Aben, Katja K. H., Adams, Marcia, Adlard, Julian, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia, Aravantinos, Gerasimos, Arnold, Norbert, Arun, Banu K., Arver, Brita, Azzollini, Jacopo, Balmana, Judith, Banerjee, Susana N., Barjhoux, Laure, Barkardottir, Rosa B., Bean, Yukie, Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bernardini, Marcus Q., Birrer, Michael J., Bjorge, Line, Black, Amanda, Blankstein, Kenneth, Blok, Marinus J., Bodelon, Clara, Bogdanova, Natalia, Bojesen, Anders, Bonanni, Bernardo, Borg, Ake, Bradbury, Angela R., Brenton, James D., Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Bruinsma, Fiona, Brunet, Joan, Buecher, Bruno, Butzow, Ralf, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Cannioto, Rikki, Carney, Michael E., Cescon, Terence, Chan, Salina B., Chang-Claude, Jenny, Chanock, Stephen, Chen, Xiao Qing, Chiew, Yoke-Eng, Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Conner, Thomas, Cook, Linda S., Cook, Jackie, Cramer, Daniel W., Cunningham, Julie M., D'Aloisio, Aimee A., Daly, Mary B., Damiola, Francesca, Damirovna, Sakaeva Dina, Dansonka-Mieszkowska, Agnieszka, Dao, Fanny, Davidson, Rosemarie, DeFazio, Anna, Delnatte, Capucine, Doheny, Kimberly F., Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer Anne, Domchek, Susan M., Dorfling, Cecilia M., Dork, Thilo, Dossus, Laure, Duran, Mercedes, Durst, Matthias, Dworniczak, Bernd, Eccles, Diana, Edwards, Todd, Eeles, Ros, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B., Ellis, Steve, Elvira, Mingajeva, Eng, Kevin H., Engel, Christoph, Evans, D. Gareth, Fasching, Peter A., Ferguson, Sarah, Ferrer, Sandra Fert, Flanagan, James M., Fogarty, Zachary C., Fortner, Renee T., Fostira, Florentia, Foulkes, William D., Fountzilas, George, Fridley, Brooke L., Friebel, Tara M., Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Garcia, Maria J., Garcia-Barberan, Vanesa, Gehrig, Andrea, Gentry-Maharaj, Aleksandra, Gerdes, Anne-Marie, Giles, Graham G., Glasspool, Rosalind, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Goranova, Teodora, Gore, Martin, Greene, Mark H., Gronwald, Jacek, Gruber, Stephen, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hamann, Ute, Hansen, Thomas V. O., Harrington, Patricia A., Harris, Holly R., Hauke, Jan, Hein, Alexander, Henderson, Alex, Hildebrandt, Michelle A. T., Hillemanns, Peter, Hodgson, Shirley, Hogdall, Claus K., Hogdall, Estrid, Hogervorst, Frans B. L., Holland, Helene, Hooning, Maartje J., Hosking, Karen, Huang, Ruea-Yea, Hulick, Peter J., Hung, Jillian, Hunter, David J., Huntsman, David G., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Iversen, Edwin S., Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jernetz, Mats, Jensen, Allan, Jensen, Uffe Birk, John, Esther M., Johnatty, Sharon, Jones, Michael E., Kannisto, Paivi, Karlan, Beth Y., Karnezis, Anthony, Kast, Karin, Kennedy, Catherine J., Khusnutdinova, Elza, Kiemeney, Lambertus A., Kiiski, Johanna I., Kim, Sung-Won, Kjaer, Susanne K., Kobel, Martin, Kopperud, Reidun K., Kruse, Torben A., Kupryjanczyk, Jolanta, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Larranaga, Nerea, Larson, Melissa C., Lazaro, Conxi, Le, Nhu D., Le Marchand, Loic, Lee, Jong Won, Lele, Shashikant B., Leminen, Arto, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A., Liang, Dong, Liebrich, Clemens, Lilyquist, Jenna, Lipworth, Loren, Lissowska, Jolanta, Lu, Karen H., Lubinski, Jan, Luccarini, Craig, Lundvall, Lene, Mai, Phuong L., Mendoza-Fandino, Gustavo, Manoukian, Siranoush, Massuger, Leon F. A. G., May, Taymaa, Mazoyer, Sylvie, McAlpine, Jessica N., McGuire, Valerie, McLaughlin, John R., McNeish, Iain, Meijers-Heijboer, Hanne, Meindl, Alfons, Menon, Usha, Mensenkamp, Arjen R., Merritt, Melissa A., Milne, Roger L., Mitchell, Gillian, Modugno, Francesmary, Moes-Sosnowska, Joanna, Moffitt, Melissa, Montagna, Marco, Moysich, Kirsten B., Mulligan, Anna Marie, Musinsky, Jacob, Nathanson, Katherine L., Nedergaard, Lotte, Ness, Roberta B., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L., Odunsi, Kunle, Olah, Edith, Olopade, Olufunmilayo I., Olsson, Hakan, Olswold, Curtis, O'Malley, David M., Ong, Kai-ren, Onland-Moret, N. Charlotte, Orr, Nicholas, Orsulic, Sandra, Osorio, Ana, Palli, Domenico, Papi, Laura, Park-Simon, Tjoung-Won, Paul, James, Pearce, Celeste L., Pedersen, Inge Sokilde, Peeters, Petra H. M., Peissel, Bernard, Peixoto, Ana, Pejovic, Tanja, Pelttari, Liisa M., Permuth, Jennifer B., Peterlongo, Paolo, Pezzani, Lidia, Pfeiler, Georg, Phillips, Kelly-Anne, Piedmonte, Marion, Pike, Malcolm C., Piskorz, Anna M., Poblete, Samantha R., Pocza, Timea, Poole, Elizabeth M., Poppe, Bruce, Porteous, Mary E., Prieur, Fabienne, Prokofyeva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pujol, Pascal, Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rhiem, Kerstin, Rice, Patricia, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C., Rodriguez-Antona, Cristina, Romm, Jane, Rookus, Matti A., Rossing, Mary Anne, Rothstein, Joseph H., Rudolph, Anja, Runnebaum, Ingo B., Salvesen, Helga B., Sandler, Dale P., Schoemaker, Minouk J., Senter, Leigha, Setiawan, V. Wendy, Severi, Gianluca, Sharma, Priyanka, Shelford, Tameka, Siddiqui, Nadeem, Side, Lucy E., Sieh, Weiva, Singer, Christian F., Sobol, Hagay, Song, Honglin, Southey, Melissa C., Spurdle, Amanda B., Stadler, Zsofia, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sucheston-Campbell, Lara E., Sukiennicki, Grzegorz, Sutphen, Rebecca, Sutter, Christian, Swerdlow, Anthony J., Szabo, Csilla I., Szafron, Lukasz, Tan, Yen Y., Taylor, Jack A., Tea, Muy-Kheng, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Kathryn L., Thompson, Pamela J., Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L., Tihomirova, Laima, Tinker, Anna V., Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tone, Alicia, Trabert, Britton, Travis, Ruth C., Trichopoulou, Antonia, Tung, Nadine, Tworoger, Shelley S., Van Altena, Anne M., Van den Berg, David, van der Hout, Annemarie H., van der Luijt, Rob B., Van Heetvelde, Mattias, Van Nieuwenhuysen, Els, Van Rensburg, Elizabeth J., Vanderstichele, Adriaan, Varon-Mateeva, Raymonda, Vega, Ana, Edwards, Digna Velez, Vergote, Ignace, Vierkant, Robert A., Vijai, Joseph, Vratimos, Athanassios, Walker, Lisa, Walsh, Christine, Wand, Dorothea, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Webb, Penelope M., Weinberg, Clarice R., Weitzel, Jeffrey N., Wentzensen, Nicolas, Whittemore, Alice S., Wijnen, Juul T., Wilkens, Lynne R., Wolk, Alicja, Woo, Michelle, Wu, Xifeng, Wu, Anna H., Yang, Hannah, Yannoukakos, Drakoulis, Ziogas, Argyrios, Zorn, Kristin K., Narod, Steven A., Easton, Douglas F., Amos, Christopher I., Schildkraut, Joellen M., Ramus, Susan J., Ottini, Laura, Goodman, Marc T., Park-, Sue K., Kelemen, Linda E., Risch, Harvey A., Thomassen, Mads, Offit, Kenneth, Simard, Jacques, Schmutzler, Rita Katharina, Hazelett, Dennis, Monteiro, Alvaro N., Couch, Fergus J., Berchuck, Andrew, Chenevix-Trench, Georgia, Goode, Ellen L., Sellers, Thomas A., Gayther, Simon A., Antoniou, Antonis C., and Pharoah, Paul D. P.
Abstract: To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3 and 9q31.1) and one for endometrioid EOC (5q12.3). We then performed meta-analysis on the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers, including 3,887 mutation carriers with EOC. This identified three additional susceptibility loci at 2q13, 8q24.1 and 12q24.31. Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC.
Published: 2017

17. Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

Author: Lecarpentier, Julie, Silvestri, Valentina, Kuchenbaecker, Karoline B., Barrowdale, Daniel, Dennis, Joe, McGuffog, Lesley, Soucy, Penny, Leslie, Goska, Rizzolo, Piera, Navazio, Anna Sara, Valentini, Virginia, Zelli, Veronica, Lee, Andrew, Al Olama, Ali Amin, Tyrer, Jonathan P., Southey, Melissa, John, Esther M., Conner, Thomas A., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Steele, Linda, Ding, Yuan Chun, Neuhausen, Susan L., Hansen, Thomas V. O., Osorio, Ana, Weitzel, Jeffrey N., Toss, Angela, Medici, Veronica, Cortesi, Laura, Zanna, Ines, Palli, Domenico, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Azzollini, Jacopo, Viel, Alessandra, Cini, Giulia, Damante, Giuseppe, Tommasi, Stefania, Peterlongo, Paolo, Fostira, Florentia, Hamann, Ute, Evans, D. Gareth, Henderson, Alex, Brewer, Carole, Eccles, Diana, Cook, Jackie, Ong, Kai-ren, Walker, Lisa, Side, Lucy E., Porteous, Mary E., Davidson, Rosemarie, Hodgson, Shirley, Frost, Debra, Adlard, Julian, Izatt, Louise, Eeles, Ros, Ellis, Steve, Tischkowitz, Marc, Godwin, Andrew K., Meindl, Alfons, Gehrig, Andrea, Dworniczak, Bernd, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Hauke, Jan, Rhiem, Kerstin, Kast, Karin, Arnold, Norbert, Ditsch, Nina, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Wand, Dorothea, Lasset, Christine, Stoppa-Lyonnet, Dominique, Belotti, Muriel, Damiola, Francesca, Barjhoux, Laure, Mazoyer, Sylvie, Van Heetvelde, Mattias, Poppe, Bruce, De Leeneer, Kim, Claes, Kathleen B. M., de la Hoya, Miguel, Garcia-Barberan, Vanesa, Caldes, Trinidad, Perez Segura, Pedro, Kiiski, Johanna I., Aittomaeki, Kristiina, Khan, Sofia, Nevanlinna, Heli, van Asperen, Christi J., Vaszko, Tibor, Kasler, Miklos, Olah, Edith, Balmana, Judith, Gutierrez-Enriquez, Sara, Diez, Orland, Teule, Alex, Izquierdo, Angel, Darder, Esther, Brunet, Joan, Del Valle, Jesus, Feliubadalo, Lidia, Pujana, Miquel Angel, Lazaro, Conxi, Arason, Adalgeir, Agnarsson, Bjarni A., Johannsson, Oskar Th., Barkardottir, Rosa B., Alducci, Elisa, Tognazzo, Silvia, Montagna, Marco, Teixeira, Manuel R., Pinto, Pedro, Spurdle, Amanda B., Holland, Helene, Lee, Jong Won, Lee, Min Hyuk, Lee, Jihyoun, Kim, Sung-Won, Kang, Eunyoung, Kim, Zisun, Sharma, Priyanka, Rebbeck, Timothy R., Vijai, Joseph, Robson, Mark, Lincoln, Anne, Musinsky, Jacob, Gaddam, Pragna, Tan, Yen Y., Berger, Andreas, Singer, Christian F., Loud, Jennifer T., Greene, Mark H., Mulligan, Anna Marie, Glendon, Gord, Andrulis, Irene L., Toland, Amanda Ewart, Senter, Leigha, Bojesen, Anders, Nielsen, Henriette Roed, Skytte, Anne-Bine, Sunde, Lone, Jensen, Uffe Birk, Pedersen, Inge Sokilde, Krogh, Lotte, Kruse, Torben A., Caligo, Maria A., Yoon, Sook-Yee, Teo, Soo-Hwang, von Wachenfeldt, Anna, Huo, Dezheng, Nielsen, Sarah M., Olopade, Olufunmilayo I., Nathanson, Katherine L., Domchek, Susan M., Lorenchick, Christa, Jankowitz, Rachel C., Campbell, Ian, James, Paul, Mitchell, Gillian, Orr, Nick, Park, Sue Kyung, Thomassen, Mads, Offit, Kenneth, Couch, Fergus J., Simard, Jacques, Easton, Douglas F., Chenevix-Trench, Georgia, Schmutzler, Rita K., Antoniou, Antonis C., Ottini, Laura, Lecarpentier, Julie, Silvestri, Valentina, Kuchenbaecker, Karoline B., Barrowdale, Daniel, Dennis, Joe, McGuffog, Lesley, Soucy, Penny, Leslie, Goska, Rizzolo, Piera, Navazio, Anna Sara, Valentini, Virginia, Zelli, Veronica, Lee, Andrew, Al Olama, Ali Amin, Tyrer, Jonathan P., Southey, Melissa, John, Esther M., Conner, Thomas A., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Steele, Linda, Ding, Yuan Chun, Neuhausen, Susan L., Hansen, Thomas V. O., Osorio, Ana, Weitzel, Jeffrey N., Toss, Angela, Medici, Veronica, Cortesi, Laura, Zanna, Ines, Palli, Domenico, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Azzollini, Jacopo, Viel, Alessandra, Cini, Giulia, Damante, Giuseppe, Tommasi, Stefania, Peterlongo, Paolo, Fostira, Florentia, Hamann, Ute, Evans, D. Gareth, Henderson, Alex, Brewer, Carole, Eccles, Diana, Cook, Jackie, Ong, Kai-ren, Walker, Lisa, Side, Lucy E., Porteous, Mary E., Davidson, Rosemarie, Hodgson, Shirley, Frost, Debra, Adlard, Julian, Izatt, Louise, Eeles, Ros, Ellis, Steve, Tischkowitz, Marc, Godwin, Andrew K., Meindl, Alfons, Gehrig, Andrea, Dworniczak, Bernd, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Hauke, Jan, Rhiem, Kerstin, Kast, Karin, Arnold, Norbert, Ditsch, Nina, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Wand, Dorothea, Lasset, Christine, Stoppa-Lyonnet, Dominique, Belotti, Muriel, Damiola, Francesca, Barjhoux, Laure, Mazoyer, Sylvie, Van Heetvelde, Mattias, Poppe, Bruce, De Leeneer, Kim, Claes, Kathleen B. M., de la Hoya, Miguel, Garcia-Barberan, Vanesa, Caldes, Trinidad, Perez Segura, Pedro, Kiiski, Johanna I., Aittomaeki, Kristiina, Khan, Sofia, Nevanlinna, Heli, van Asperen, Christi J., Vaszko, Tibor, Kasler, Miklos, Olah, Edith, Balmana, Judith, Gutierrez-Enriquez, Sara, Diez, Orland, Teule, Alex, Izquierdo, Angel, Darder, Esther, Brunet, Joan, Del Valle, Jesus, Feliubadalo, Lidia, Pujana, Miquel Angel, Lazaro, Conxi, Arason, Adalgeir, Agnarsson, Bjarni A., Johannsson, Oskar Th., Barkardottir, Rosa B., Alducci, Elisa, Tognazzo, Silvia, Montagna, Marco, Teixeira, Manuel R., Pinto, Pedro, Spurdle, Amanda B., Holland, Helene, Lee, Jong Won, Lee, Min Hyuk, Lee, Jihyoun, Kim, Sung-Won, Kang, Eunyoung, Kim, Zisun, Sharma, Priyanka, Rebbeck, Timothy R., Vijai, Joseph, Robson, Mark, Lincoln, Anne, Musinsky, Jacob, Gaddam, Pragna, Tan, Yen Y., Berger, Andreas, Singer, Christian F., Loud, Jennifer T., Greene, Mark H., Mulligan, Anna Marie, Glendon, Gord, Andrulis, Irene L., Toland, Amanda Ewart, Senter, Leigha, Bojesen, Anders, Nielsen, Henriette Roed, Skytte, Anne-Bine, Sunde, Lone, Jensen, Uffe Birk, Pedersen, Inge Sokilde, Krogh, Lotte, Kruse, Torben A., Caligo, Maria A., Yoon, Sook-Yee, Teo, Soo-Hwang, von Wachenfeldt, Anna, Huo, Dezheng, Nielsen, Sarah M., Olopade, Olufunmilayo I., Nathanson, Katherine L., Domchek, Susan M., Lorenchick, Christa, Jankowitz, Rachel C., Campbell, Ian, James, Paul, Mitchell, Gillian, Orr, Nick, Park, Sue Kyung, Thomassen, Mads, Offit, Kenneth, Couch, Fergus J., Simard, Jacques, Easton, Douglas F., Chenevix-Trench, Georgia, Schmutzler, Rita K., Antoniou, Antonis C., and Ottini, Laura
Abstract: PurposeBRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We investigatedfor the first time to our knowledgeassociations of common genetic variants with breast and prostate cancer risks for male carriers of BRCA1/2 mutations and implications for cancer risk prediction.Materials and MethodsWe genotyped 1,802 male carriers of BRCA1/2 mutations from the Consortium of Investigators of Modifiers of BRCA1/2 by using the custom Illumina OncoArray. We investigated the combined effects of established breast and prostate cancer susceptibility variants on cancer risks for male carriers of BRCA1/2 mutations by constructing weighted polygenic risk scores (PRSs) using published effect estimates as weights.ResultsIn male carriers of BRCA1/2 mutations, PRS that was based on 88 female breast cancer susceptibility variants was associated with breast cancer risk (odds ratio per standard deviation of PRS, 1.36; 95% CI, 1.19 to 1.56; P = 8.6 x 10(-6)). Similarly, PRS that was based on 103 prostate cancer susceptibility variants was associated with prostate cancer risk (odds ratio per SD of PRS, 1.56; 95% CI, 1.35 to 1.81; P = 3.2 x 10(-9)). Large differences in absolute cancer risks were observed at the extremes of the PRS distribution. For example, prostate cancer risk by age 80 years at the 5th and 95th percentiles of the PRS varies from 7% to 26% for carriers of BRCA1 mutations and from 19% to 61% for carriers of BRCA2 mutations, respectively.ConclusionPRSs may provide informative cancer risk stratification for male carriers of BRCA1/2 mutations that might enable these men and their physicians to make informed decisions on the type and timing of breast and prostate cancer risk management.
Published: 2017

18. Tumor burden monitoring using cell-free tumor DNA could be limited by tumor heterogeneity in advanced breast cancer and should be evaluated together with radiographic imaging

Author: García-Saenz, José Angel, primary, Ayllón, Patricia, additional, Laig, Marion, additional, Acosta-Eyzaguirre, Daniel, additional, García-Esquinas, Marta, additional, Montes, Myriam, additional, Sanz, Julián, additional, Barquín, Miguel, additional, Moreno, Fernando, additional, Garcia-Barberan, Vanesa, additional, Díaz-Rubio, Eduardo, additional, Caldes, Trinidad, additional, and Romero, Atocha, additional
Published: 2017
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19. 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, Offit, Kenneth, Olah, Edith, Ong, Kai-Ren, Ottini, Laura, Park, Sue K, Peterlongo, Paolo, Pfeiler, Georg, Phelan, Catherine M, Poppe, Bruce, Pradhan, Nisha, Radice, Paolo, Ramus, Susan J, Rantala, Johanna, Robson, Mark, Rodriguez, Gustavo C, Schmutzler, Rita K, Hutten Selkirk, Christina G, Shah, Payal D, Simard, Jacques, Singer, Christian F, Sokolowska, Johanna, Stoppa-Lyonnet, Dominique, Sutter, Christian, Yen Tan, Yen, Teixeira, R Manuel, Teo, Soo H, Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Toland, Amanda E, Tucker, Katherine M, Tung, Nadine, Van Asperen, Christi J, Van Engelen, Klaartje, Van Rensburg, Elizabeth J, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N, Yannoukakos, Drakoulis, GEMO Study Collaborators, HEBON, EMBRACE, Greene, Mark H, Rookus, Matti A, Easton, Douglas F, Chenevix-Trench, Georgia, Antoniou, Antonis C, Goldgar, David E, Olopade, Olufunmilayo I, Rebbeck, Timothy R, and Huo, Dezheng
Subjects: 2. Zero hunger, Adult, BRCA2 Protein, BRCA1 Protein, Breast Neoplasms, Mendelian Randomization Analysis, Prognosis, Polymorphism, Single Nucleotide, Body Height, Body Mass Index, Risk Factors, Mutation, Humans, Female, Genetic Predisposition to Disease, skin and connective tissue diseases
Abstract: BACKGROUND: BRCA1/2 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. METHODS: We 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. RESULTS: Observed 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. CONCLUSION: Height 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.

20. Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author: Vigorito, Elena, Kuchenbaecker, Karoline B, Beesley, Jonathan, Adlard, Julian, Agnarsson, Bjarni A, Andrulis, Irene L, Arun, Banu K, Barjhoux, Laure, Belotti, Muriel, Benitez, Javier, Berger, Andreas, Bojesen, Anders, Bonanni, Bernardo, Brewer, Carole, Caldes, Trinidad, Caligo, Maria A, Campbell, Ian, Chan, Salina B, Claes, Kathleen BM, Cohn, David E, Cook, Jackie, Daly, Mary B, Damiola, Francesca, Davidson, Rosemarie, Pauw, Antoine De, Delnatte, Capucine, Diez, Orland, Domchek, Susan M, Dumont, Martine, Durda, Katarzyna, Dworniczak, Bernd, Easton, Douglas F, Eccles, Diana, Edwinsdotter Ardnor, Christina, Eeles, Ros, Ejlertsen, Bent, Ellis, Steve, Evans, D Gareth, Feliubadalo, Lidia, Fostira, Florentia, Foulkes, William D, Friedman, Eitan, Frost, Debra, Gaddam, Pragna, Ganz, Patricia A, Garber, Judy, Garcia-Barberan, Vanesa, Gauthier-Villars, Marion, Gehrig, Andrea, Gerdes, Anne-Marie, Giraud, Sophie, Godwin, Andrew K, Goldgar, David E, Hake, Christopher R, Hansen, Thomas VO, Healey, Sue, Hodgson, Shirley, Hogervorst, Frans BL, Houdayer, Claude, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jacobs, Lauren, Jakubowska, Anna, Janavicius, Ramunas, Jaworska-Bieniek, Katarzyna, Jensen, Uffe Birk, John, Esther M, Vijai, Joseph, Karlan, Beth Y, Kast, Karin, KConFab Investigators, Khan, Sofia, Kwong, Ava, Laitman, Yael, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Lubinski, Jan, Mai, Phuong L, Manoukian, Siranoush, Mazoyer, Sylvie, Meindl, Alfons, Mensenkamp, Arjen R, Montagna, Marco, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Olah, Edith, Olopade, Olufunmilayo I, Ong, Kai-Ren, Osorio, Ana, Park, Sue Kyung, Paulsson-Karlsson, Ylva, Pedersen, Inge Sokilde, Peissel, Bernard, Peterlongo, Paolo, Pfeiler, Georg, Phelan, Catherine M, Piedmonte, Marion, Poppe, Bruce, Pujana, Miquel Angel, Radice, Paolo, Rennert, Gad, Rodriguez, Gustavo C, Rookus, Matti A, Ross, Eric A, Schmutzler, Rita Katharina, Simard, Jacques, Singer, Christian F, Slavin, Thomas P, Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Sutter, Christian, Szabo, Csilla I, Tea, Muy-Kheng, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tibiletti, Maria Grazia, Tihomirova, Laima, Tognazzo, Silvia, Van Rensburg, Elizabeth J, Varesco, Liliana, Varon-Mateeva, Raymonda, Vratimos, Athanassios, Weitzel, Jeffrey N, McGuffog, Lesley, Kirk, Judy, Toland, Amanda Ewart, Hamann, Ute, Lindor, Noralane, Ramus, Susan J, Greene, Mark H, Couch, Fergus J, Offit, Kenneth, Pharoah, Paul DP, Chenevix-Trench, Georgia, Antoniou, Antonis C, Vigorito, Elena [0000-0001-6230-3849], Easton, Douglas [0000-0003-2444-3247], Pharoah, Paul [0000-0001-8494-732X], Antoniou, Antonis [0000-0001-9223-3116], and Apollo - University of Cambridge Repository
Subjects: Ovarian Neoplasms, Oncogens, endocrine system diseases, Science, Genetic Carrier Screening, Genes, BRCA2, Genes, BRCA1, Càncer d'ovari, Chromosome Mapping, Oncogenes, Polymorphism, Single Nucleotide, 3. Good health, Ovarian cancer, Journal Article, Medicine, Humans, Female, Genetic Predisposition to Disease, Chromosomes, Human, Pair 9, skin and connective tissue diseases
Abstract: Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,211 (631 ovarian cancer cases) BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA 2 mutation carriers respectively, within a retrospective cohort analytical framework. In BRCA1 mutation carriers one set of eight correlated candidate causal variants for ovarian cancer risk modification was identified (top SNP rs10124837, HR: 0.73, 95%CI: 0.68 to 0.79, p-value 2× 10-16). These variants were located up to 20 kb upstream of BNC2. In BRCA2 mutation carriers one region, up to 45 kb upstream of BNC2, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95%CI: 0.59 to 0.80, p-value 1.0 × 10-6). The candidate causal in BRCA1 mutation carriers did not include the strongest associated variant at this locus in the general population. In sum, we identified a set of candidate causal variants in a region that encompasses the BNC2 transcription start site. The ovarian cancer association at 9p22.2 may be mediated by different variants in BRCA1 mutation carriers and in the general population. Thus, potentially different mechanisms may underlie ovarian cancer risk for mutation carriers and the general population.

21. 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, Pradhan, Nisha, Radice, Paolo, Ramus, Susan J, Rantala, Johanna, Rennert, Gad, Robson, Mark, Rodriguez, Gustavo C, Salani, Ritu, Scheuner, Maren T, Schmutzler, Rita K, Shah, Payal D, Side, Lucy E, Simard, Jacques, Singer, Christian F, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Tan, Yen Yen, Teixeira, Manuel R, Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E, Tung, Nadine, Van Asperen, Christi J, Van Engelen, Klaartje, Van Rensburg, Elizabeth J, Venat-Bouvet, Laurence, Vierstraete, Jeroen, Wagner, Gabriel, Walker, Lisa, Weitzel, Jeffrey N, Yannoukakos, Drakoulis, KConFab Investigators, HEBON Investigators, GEMO Study Collaborators, EMBRACE Collaborators, Antoniou, Antonis C, Goldgar, David E, Olopade, Olufunmilayo I, Chenevix-Trench, Georgia, Rebbeck, Timothy R, Huo, Dezheng, and CIMBA
Subjects: 2. Zero hunger, Adult, Ovarian Neoplasms, Heterozygote, Genes, BRCA2, Genes, BRCA1, Mendelian Randomization Analysis, Middle Aged, Body Height, 3. Good health, Body Mass Index, Mutation, Humans, Female, Menopause, Aged, Proportional Hazards Models
Abstract: BACKGROUND: Height 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. METHODS: We 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. RESULTS: Observed 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 < 0.05). CONCLUSION: Our observation of a positive association between BMI and ovarian cancer risk in premenopausal BRCA1/2 mutation carriers is consistent with findings in the general population.

22. 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 G. E. M., 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 B. M., 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 E. J., 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, Pradhan, Nisha, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Robson, Mark, Rodriguez, Gustavo C., Salani, Ritu, Scheuner, Maren T., Schmutzler, Rita K., Shah, Payal D., Side, Lucy E., Simard, Jacques, Singer, Christian F., Steinemann, Doris, Stoppa-Lyonnet, Dominique, Tan, Yen Yen, Teixeira, Manuel R., Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tung, Nadine, Van Asperen, Christi J., Van Engelen, Klaartje, Van Rensburg, Elizabeth J., Venat-Bouvet, Laurence, Vierstraete, Jeroen, Wagner, Gabriel, Walker, Lisa, Weitzel, Jeffrey N., Yannoukakos, Drakoulis, Antoniou, Antonis C., Goldgar, David E., Olopade, Olufunmilayo I., Chenevix-Trench, Georgia, Rebbeck, Timothy R., and Huo, Dezheng
Subjects: 2. Zero hunger, article, 692/308/174, 692/499, 3. Good health, 692/4028/67/2324
Abstract: Funder: CIMBA: The CIMBA data management and data analysis were supported by Cancer Research – UK grants C12292/A20861, C12292/A11174. ACA is a Cancer Research -UK Senior Cancer Research Fellow. GCT and ABS are NHMRC Research Fellows. iCOGS: the European Community's Seventh Framework Programme under grant agreement No. 223175 (HEALTH-F2-2009-223175) (COGS), Cancer Research UK (C1287/A10118, C1287/A 10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565), the National Institutes of Health (CA128978) and Post-Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065 and 1U19 CA148112 - the GAME-ON initiative), the Department of Defence (W81XWH-10-1-0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer (CRN-87521), and the Ministry of Economic Development, Innovation and Export Trade (PSR-SIIRI-701), Komen Foundation for the Cure, the Breast Cancer Research Foundation, and the Ovarian Cancer Research Fund. The PERSPECTIVE project was supported by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research, the Ministry of Economy, Science and Innovation through Genome Québec, and The Quebec Breast Cancer Foundation. BCFR: UM1 CA164920 from the National Cancer Institute. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government or the BCFR. BFBOCC: Lithuania (BFBOCC-LT): Research Council of Lithuania grant SEN-18/2015. BIDMC: Breast Cancer Research Foundation. BMBSA: Cancer Association of South Africa (PI Elizabeth J. van Rensburg). CNIO: Spanish Ministry of Health PI16/00440 supported by FEDER funds, the Spanish Ministry of Economy and Competitiveness (MINECO) SAF2014-57680-R and the Spanish Research Network on Rare diseases (CIBERER). COH-CCGCRN: Research reported in this publication was supported by the National Cancer Institute of the National Institutes of Health under grant number R25CA112486, and RC4CA153828 (PI: J. Weitzel) from the National Cancer Institute and the Office of the Director, National Institutes of Health. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. CONSIT: Associazione Italiana Ricerca sul Cancro (AIRC; IG2014 no.15547) to P. Radice. Italian Association for Cancer Research (AIRC; grant no.16933) to L. Ottini. Associazione Italiana Ricerca sul Cancro (AIRC; IG2015 no.16732) to P. Peterlongo. Jacopo Azzollini is supported by funds from Italian citizens who allocated the 5x1000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT-Institutional strategic projects ‘5x1000’). DEMOKRITOS: European Union (European Social Fund – ESF) and Greek national funds through the Operational Program "Education and Lifelong Learning" of the National Strategic Reference Framework (NSRF) - Research Funding Program of the General Secretariat for Research & Technology: SYN11_10_19 NBCA. Investing in knowledge society through the European Social Fund. DFKZ: German Cancer Research Center. EMBRACE: Cancer Research UK Grants C1287/A10118 and C1287/A11990. D. Gareth Evans and Fiona Lalloo are supported by an NIHR grant to the Biomedical Research Centre, Manchester. The Investigators at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust are supported by an NIHR grant to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust. Ros Eeles and Elizabeth Bancroft are supported by Cancer Research UK Grant C5047/A8385. Ros Eeles is also supported by NIHR support to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust. FCCC: The University of Kansas Cancer Center (P30 CA168524) and the Kansas Bioscience Authority Eminent Scholar Program. A.K.G. was funded by R0 1CA140323, R01 CA214545, and by the Chancellors Distinguished Chair in Biomedical Sciences Professorship. FPGMX: FISPI05/2275 and Mutua Madrileña Foundation (FMMA). GC-HBOC: German Cancer Aid (grant no 110837, Rita K. Schmutzler) and the European Regional Development Fund and Free State of Saxony, Germany (LIFE - Leipzig Research Centre for Civilization Diseases, project numbers 713-241202, 713-241202, 14505/2470, 14575/2470). GEMO: Ligue Nationale Contre le Cancer; the Association “Le cancer du sein, parlons-en!” Award, the Canadian Institutes of Health Research for the "CIHR Team in Familial Risks of Breast Cancer" program and the French National Institute of Cancer (INCa grants 2013-1-BCB-01-ICH-1 and SHS-E-SP 18-015). GEORGETOWN: the Non-Therapeutic Subject Registry Shared Resource at Georgetown University (NIH/NCI grant P30-CA051008), the Fisher Center for Hereditary Cancer and Clinical Genomics Research, and Swing Fore the Cure. G-FAST: Bruce Poppe is a senior clinical investigator of FWO. Mattias Van Heetvelde obtained funding from IWT. HCSC: Spanish Ministry of Health PI15/00059, PI16/01292, and CB-161200301 CIBERONC from ISCIII (Spain), partially supported by European Regional Development FEDER funds. HEBCS: Helsinki University Hospital Research Fund, Academy of Finland (266528), the Finnish Cancer Society and the Sigrid Juselius Foundation. HEBON: the Dutch Cancer Society grants NKI1998-1854, NKI2004-3088, NKI2007-3756, the Netherlands Organisation of Scientific Research grant NWO 91109024, the Pink Ribbon grants 110005 and 2014-187.WO76, the BBMRI grant NWO 184.021.007/CP46 and the Transcan grant JTC 2012 Cancer 12-054. HRBCP: Hong Kong Sanatorium and Hospital, Dr Ellen Li Charitable Foundation, The Kerry Group Kuok Foundation, National Institute of Health1R 03CA130065, and North California Cancer Center. HUNBOCS: Hungarian Research Grants KTIA-OTKA CK-80745 and OTKA K-112228. ICO: The authors would like to particularly acknowledge the support of the Asociación Española Contra el Cáncer (AECC), the Instituto de Salud Carlos III (organismo adscrito al Ministerio de Economía y Competitividad) and “Fondo Europeo de Desarrollo Regional (FEDER), una manera de hacer Europa” (PI10/01422, PI13/00285, PIE13/00022, PI15/00854, PI16/00563 and CIBERONC) and the Institut Català de la Salut and Autonomous Government of Catalonia (2009SGR290, 2014SGR338 and PERIS Project MedPerCan). IHCC: PBZ_KBN_122/P05/2004. ILUH: Icelandic Association “Walking for Breast Cancer Research” and by the Landspitali University Hospital Research Fund. INHERIT: Canadian Institutes of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” program – grant # CRN-87521 and the Ministry of Economic Development, Innovation and Export Trade – grant # PSR-SIIRI-701. IOVHBOCS: Ministero della Salute and “5x1000” Istituto Oncologico Veneto grant. IPOBCS: Liga Portuguesa Contra o Cancro. kConFab: The National Breast Cancer Foundation, and previously by the National Health and Medical Research Council (NHMRC), the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. MAYO: NIH grants CA116167, CA192393 and CA176785, an NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201),and a grant from the Breast Cancer Research Foundation. MCGILL: Jewish General Hospital Weekend to End Breast Cancer, Quebec Ministry of Economic Development, Innovation and Export Trade. Marc Tischkowitz is supported by the funded by the European Union Seventh Framework Program (2007Y2013)/European Research Council (Grant No. 310018). MODSQUAD: MH CZ - DRO (MMCI, 00209805), MEYS - NPS I - LO1413 to LF and by the European Regional Development Fund and the State Budget of the Czech Republic (RECAMO, CZ.1.05/2.1.00/03.0101) to LF, and by Charles University in Prague project UNCE204024 (MZ). MSKCC: the Breast Cancer Research Foundation, the Robert and Kate Niehaus Clinical Cancer Genetics Initiative, the Andrew Sabin Research Fund and a Cancer Center Support Grant/Core Grant (P30 CA008748). NAROD: 1R01 CA149429-01. NCI: the Intramural Research Program of the US National Cancer Institute, NIH, and by support services contracts NO2-CP-11019-50, N02-CP-21013-63 and N02-CP-65504 with Westat, Inc, Rockville, MD. NICCC: Clalit Health Services in Israel, the Israel Cancer Association and the Breast Cancer Research Foundation (BCRF), NY. NNPIO: the Russian Foundation for Basic Research (grants 17-54-12007, 17-00-00171 and 18-515-12007). NRG Oncology: U10 CA180868, NRG SDMC grant U10 CA180822, NRG Administrative Office and the NRG Tissue Bank (CA 27469), the NRG Statistical and Data Center (CA 37517) and the Intramural Research Program, NCI. OSUCCG: Ohio State University Comprehensive Cancer Center. PBCS: Italian Association of Cancer Research (AIRC) [IG 2013 N.14477] and Tuscany Institute for Tumors (ITT) grant 2014-2015-2016. SEABASS: Ministry of Science, Technology and Innovation, Ministry of Higher Education (UM.C/HlR/MOHE/06) and Cancer Research Initiatives Foundation. SMC: the Israeli Cancer Association. SWE-BRCA: the Swedish Cancer Society. UCHICAGO: NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA125183), R01 CA142996, 1U01CA161032, P20CA233307, American Cancer Society (MRSG-13-063-01-TBG, CRP-10-119-01-CCE), Breast Cancer Research Foundation, Susan G. Komen Foundation (SAC110026), and Ralph and Marion Falk Medical Research Trust, the Entertainment Industry Fund National Women's Cancer Research Alliance. Mr. Qian was supported by the Alpha Omega Alpha Carolyn L. Cuckein Student Research Fellowship. UCLA: Jonsson Comprehensive Cancer Center Foundation; Breast Cancer Research Foundation. UCSF: UCSF Cancer Risk Program and Helen Diller Family Comprehensive Cancer Center. UKFOCR: Cancer Research UK. UPENN: Breast Cancer Research Foundation; Susan G. Komen Foundation for the cure, Basser Center for BRCA. UPITT/MWH: Hackers for Hope Pittsburgh. VFCTG: Victorian Cancer Agency, Cancer Australia, National Breast Cancer Foundation. WCP: Dr Karlan is funded by the American Cancer Society Early Detection Professorship (SIOP-06-258-01-COUN) and the National Center for Advancing Translational Sciences (NCATS), Grant UL1TR000124., Background: Height 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. Methods: We 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. Results: Observed 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 < 0.05). Conclusion: Our observation of a positive association between BMI and ovarian cancer risk in premenopausal BRCA1/2 mutation carriers is consistent with findings in the general population.

23. 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, Heiko, 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 BM, Clarke, Christine L, GEMO Study Collaborators, EMBRACE Collaborators, 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 Gareth, Fasching, Peter A, Flyger, Henrik, Fostira, Florentia, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M, Garber, Judy, Garcia-Barberan, Vanesa, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, Gayther, Simon A, Gehrig, Andrea, Georgoulias, Vassilios, Giles, Graham G, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A, Hart, Steven N, He, Wei, Hogervorst, Frans BL, Hollestelle, Antoinette, Hopper, John L, Horcasitas, Darling J, Hulick, Peter J, Hunter, David J, Imyanitov, Evgeny N, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Jager, Agnes, Jakubowska, Anna, James, Paul A, Jensen, Uffe Birk, John, Esther M, Jones, Michael E, Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y, Keeman, Renske, Khusnutdinova, Elza, Kiiski, Johanna I, Ko, Yon-Dschun, Kosma, Veli-Matti, Kraft, Peter, Kurian, Allison W, Laitman, Yael, Lambrechts, Diether, Le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lindstrom, Tricia, Lopez-Fernández, Adria, Loud, Jennifer T, Luccarini, Craig, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Martens, John WM, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Milne, Roger L, Montagna, Marco, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nielsen, Finn C, O'Brien, Katie M, Olopade, Olufunmilayo I, Olson, Janet E, Olsson, Håkan, Osorio, Ana, Ottini, Laura, Park-Simon, Tjoung-Won, Parsons, Michael T, Pedersen, Inge Sokilde, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul DP, Phillips, Kelly-Anne, Polley, Eric C, Poppe, Bruce, Presneau, Nadege, Pujana, Miquel Angel, Punie, Kevin, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad U, Rennert, Gad, Rennert, Hedy S, Robson, Mark, Romero, Atocha, Rossing, Maria, Saloustros, Emmanouil, Sandler, Dale P, Santella, Regina, Scheuner, Maren T, Schmidt, Marjanka K, Schmidt, Gunnar, Scott, Christopher, Sharma, Priyanka, Soucy, Penny, Southey, Melissa C, Spinelli, John J, Steinsnyder, Zoe, Stone, Jennifer, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Tamimi, Rulla M, Tapper, William J, Taylor, Jack A, Terry, Mary Beth, Teulé, Alex, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Torres, Diana, Trainer, Alison H, Truong, Thérèse, Tung, Nadine, Vachon, Celine M, Vega, Ana, Vijai, Joseph, Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R, Weitzel, Jeffrey N, Wendt, Camilla, Wolk, Alicja, Yadav, Siddhartha, Yang, Xiaohong R, Yannoukakos, Drakoulis, Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K, Park, Sue K, Thomassen, Mads, Offit, Kenneth, Schmutzler, Rita K, Couch, Fergus J, Simard, Jacques, Chenevix-Trench, Georgia, Easton, Douglas F, Andrieu, Nadine, and Antoniou, Antonis C
Subjects: Adult, BRCA2 Protein, endocrine system diseases, Genotype, BRCA1 Protein, Quantitative Trait Loci, Breast Neoplasms, Middle Aged, Polymorphism, Single Nucleotide, Linkage Disequilibrium, 3. Good health, Risk Factors, Mutation, Humans, Female, Genetic Predisposition to Disease, skin and connective tissue diseases, Alleles, 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 < 10-8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.

24. 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., 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. Gareth, Fasching, Peter A., Flyger, Henrik, Fostira, Florentia, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M., Garber, Judy, Garcia-Barberan, Vanesa, García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., Gayther, Simon A., Gehrig, Andrea, Georgoulias, Vassilios, Giles, Graham G., Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hart, Steven N., He, Wei, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hopper, John L., Horcasitas, Darling J., Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., Jager, Agnes, Jakubowska, Anna, James, Paul A., Jensen, Uffe Birk, John, Esther M., Jones, Michael E., Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Khusnutdinova, Elza, Kiiski, Johanna I., Ko, Yon-Dschun, Kosma, Veli-Matti, Kraft, Peter, Kurian, Allison W., Laitman, Yael, Lambrechts, Diether, Le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lindstrom, Tricia, Lopez-Fernández, Adria, Loud, Jennifer T., Luccarini, Craig, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Milne, Roger L., Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nielsen, Finn C., O’Brien, Katie M., Olopade, Olufunmilayo I., Olson, Janet E., Olsson, Håkan, Osorio, Ana, Ottini, Laura, Park-Simon, Tjoung-Won, Parsons, Michael T., Pedersen, Inge Sokilde, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul D. P., Phillips, Kelly-Anne, Polley, Eric C., Poppe, Bruce, Presneau, Nadege, Pujana, Miquel Angel, Punie, Kevin, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad U., Rennert, Gad, Rennert, Hedy S., Robson, Mark, Romero, Atocha, Rossing, Maria, Saloustros, Emmanouil, Sandler, Dale P., Santella, Regina, Scheuner, Maren T., Schmidt, Marjanka K., Schmidt, Gunnar, Scott, Christopher, Sharma, Priyanka, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Steinsnyder, Zoe, Stone, Jennifer, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Terry, Mary Beth, Teulé, Alex, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Trainer, Alison H., Truong, Thérèse, Tung, Nadine, Vachon, Celine M., Vega, Ana, Vijai, Joseph, Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wolk, Alicja, Yadav, Siddhartha, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Park, Sue K., Thomassen, Mads, Offit, Kenneth, Schmutzler, Rita K., Couch, Fergus J., Simard, Jacques, Chenevix-Trench, Georgia, Easton, Douglas F., Andrieu, Nadine, Antoniou, Antonis C., 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, Mélanie, 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, Hélène, 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, Véronique, 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, Fox, Stephen, Campbell, Ian, Spurdle, Amanda, Webb, Penny, De Fazio, Anna, Tassell, Margaret, Kirk, Judy, Lindeman, Geoff, Price, Melanie, Southey, Melissa, Milne, Roger, Deb, Sid, Bowtell, David, Van Der Hout, Annemieke H., Van Den Ouweland, Ans M. W., Mensenkamp, Arjen R., Van Deurzen, Carolien H. M., Kets, Carolien M., Seynaeve, Caroline, Van Asperen, Christi J., Aalfs, Cora M., Gómez Garcia, Encarna B., Van Leeuwen, Flora E., De Bock, G. H., Meijers-Heijboer, Hanne E. J., Obdeijn, Inge M., Collée, J. Margriet, Gille, J. J. P., Oosterwijk, Jan C., Wijnen, Juul T., Van Der Kolk, Lizet E., Hooning, Maartje J., Ausems, Margreet G. E. M., Mourits, Marian J. E., Blok, Marinus J., Rookus, Matti A., Van Der Luijt, Rob B., Van Cronenburg, T. C. T. E. F., Van Der Pol, Carmen C., Russell, Nicola S., Siesling, Sabine, Overbeek, Lucy, Wijnands, R., De Lange, Judith L., Clarke, Christine, Graham, Dinny, Sachchithananthan, Mythily, Marsh, Deborah, Scott, Rodney, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, and Simpson, Peter
Subjects: endocrine system diseases, 45/61, 45/43, article, 631/67/2324, 631/67/1347, 631/208/68, skin and connective tissue diseases, 692/499, 3. Good health
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 < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.

25. 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, Heiko, 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., 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. Gareth, Fasching, Peter A., Flyger, Henrik, Fostira, Florentia, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M., Garber, Judy, Garcia-Barberan, Vanesa, García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., Gayther, Simon A., Gehrig, Andrea, Georgoulias, Vassilios, Giles, Graham G., Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hart, Steven N., He, Wei, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hopper, John L., Horcasitas, Darling J., Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., Jager, Agnes, Jakubowska, Anna, James, Paul A., Jensen, Uffe Birk, John, Esther M., Jones, Michael E., Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Khusnutdinova, Elza, Kiiski, Johanna I., Ko, Yon-Dschun, Kosma, Veli-Matti, Kraft, Peter, Kurian, Allison W., Laitman, Yael, Lambrechts, Diether, Le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lindstrom, Tricia, Lopez-Fernández, Adria, Loud, Jennifer T., Luccarini, Craig, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Milne, Roger L., Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nielsen, Finn C., O’Brien, Katie M., Olopade, Olufunmilayo I., Olson, Janet E., Olsson, Håkan, Osorio, Ana, Ottini, Laura, Park-Simon, Tjoung-Won, Parsons, Michael T., Pedersen, Inge Sokilde, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul D. P., Phillips, Kelly-Anne, Polley, Eric C., Poppe, Bruce, Presneau, Nadege, Pujana, Miquel Angel, Punie, Kevin, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad U., Rennert, Gad, Rennert, Hedy S., Robson, Mark, Romero, Atocha, Rossing, Maria, Saloustros, Emmanouil, Sandler, Dale P., Santella, Regina, Scheuner, Maren T., Schmidt, Marjanka K., Schmidt, Gunnar, Scott, Christopher, Sharma, Priyanka, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Steinsnyder, Zoe, Stone, Jennifer, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Terry, Mary Beth, Teulé, Alex, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Trainer, Alison H., Truong, Thérèse, Tung, Nadine, Vachon, Celine M., Vega, Ana, Vijai, Joseph, Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wolk, Alicja, Yadav, Siddhartha, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Park, Sue K., Thomassen, Mads, Offit, Kenneth, Schmutzler, Rita K., Couch, Fergus J., Simard, Jacques, Chenevix-Trench, Georgia, Easton, Douglas F., Andrieu, Nadine, Antoniou, Antonis C., 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, Mélanie, 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, Hélène, 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, Véronique, 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, Fox, Stephen, Campbell, Ian, Spurdle, Amanda, Webb, Penny, De Fazio, Anna, Tassell, Margaret, Kirk, Judy, Lindeman, Geoff, Price, Melanie, Southey, Melissa, Milne, Roger, Deb, Sid, Bowtell, David, Van Der Hout, Annemieke H., Van Den Ouweland, Ans M. W., Mensenkamp, Arjen R., Van Deurzen, Carolien H. M., Kets, Carolien M., Seynaeve, Caroline, Van Asperen, Christi J., Aalfs, Cora M., Gómez Garcia, Encarna B., Van Leeuwen, Flora E., De Bock, G. H., Meijers-Heijboer, Hanne E. J., Obdeijn, Inge M., Collée, J. Margriet, Gille, J. J. P., Oosterwijk, Jan C., Wijnen, Juul T., Van Der Kolk, Lizet E., Hooning, Maartje J., Ausems, Margreet G. E. M., Mourits, Marian J. E., Blok, Marinus J., Rookus, Matti A., Van Der Luijt, Rob B., Van Cronenburg, T. C. T. E. F., Van Der Pol, Carmen C., Russell, Nicola S., Siesling, Sabine, Overbeek, Lucy, Wijnands, R., De Lange, Judith L., Clarke, Christine, Graham, Dinny, Sachchithananthan, Mythily, Marsh, Deborah, Scott, Rodney, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, and Simpson, Peter
Subjects: endocrine system diseases, 45/61, 45/43, article, 631/67/2324, 631/67/1347, 631/208/68, skin and connective tissue diseases, 692/499, 3. Good health
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 < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.

26. 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, Heiko, 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., 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. Gareth, Fasching, Peter A., Flyger, Henrik, Fostira, Florentia, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M., Garber, Judy, Garcia-Barberan, Vanesa, García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., Gayther, Simon A., Gehrig, Andrea, Georgoulias, Vassilios, Giles, Graham G., Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hart, Steven N., He, Wei, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hopper, John L., Horcasitas, Darling J., Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., Jager, Agnes, Jakubowska, Anna, James, Paul A., Jensen, Uffe Birk, John, Esther M., Jones, Michael E., Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Khusnutdinova, Elza, Kiiski, Johanna I., Ko, Yon-Dschun, Kosma, Veli-Matti, Kraft, Peter, Kurian, Allison W., Laitman, Yael, Lambrechts, Diether, Le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lindstrom, Tricia, Lopez-Fernández, Adria, Loud, Jennifer T., Luccarini, Craig, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Milne, Roger L., Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nielsen, Finn C., O’Brien, Katie M., Olopade, Olufunmilayo I., Olson, Janet E., Olsson, Håkan, Osorio, Ana, Ottini, Laura, Park-Simon, Tjoung-Won, Parsons, Michael T., Pedersen, Inge Sokilde, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul D. P., Phillips, Kelly-Anne, Polley, Eric C., Poppe, Bruce, Presneau, Nadege, Pujana, Miquel Angel, Punie, Kevin, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad U., Rennert, Gad, Rennert, Hedy S., Robson, Mark, Romero, Atocha, Rossing, Maria, Saloustros, Emmanouil, Sandler, Dale P., Santella, Regina, Scheuner, Maren T., Schmidt, Marjanka K., Schmidt, Gunnar, Scott, Christopher, Sharma, Priyanka, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Steinsnyder, Zoe, Stone, Jennifer, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Terry, Mary Beth, Teulé, Alex, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Trainer, Alison H., Truong, Thérèse, Tung, Nadine, Vachon, Celine M., Vega, Ana, Vijai, Joseph, Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wolk, Alicja, Yadav, Siddhartha, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Park, Sue K., Thomassen, Mads, Offit, Kenneth, Schmutzler, Rita K., Couch, Fergus J., Simard, Jacques, Chenevix-Trench, Georgia, Easton, Douglas F., Andrieu, Nadine, Antoniou, Antonis C., 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, Mélanie, 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, Hélène, 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, Véronique, 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, Fox, Stephen, Campbell, Ian, Spurdle, Amanda, Webb, Penny, De Fazio, Anna, Tassell, Margaret, Kirk, Judy, Lindeman, Geoff, Price, Melanie, Southey, Melissa, Milne, Roger, Deb, Sid, Bowtell, David, Van Der Hout, Annemieke H., Van Den Ouweland, Ans M. W., Mensenkamp, Arjen R., Van Deurzen, Carolien H. M., Kets, Carolien M., Seynaeve, Caroline, Van Asperen, Christi J., Aalfs, Cora M., Gómez Garcia, Encarna B., Van Leeuwen, Flora E., De Bock, G. H., Meijers-Heijboer, Hanne E. J., Obdeijn, Inge M., Collée, J. Margriet, Gille, J. J. P., Oosterwijk, Jan C., Wijnen, Juul T., Van Der Kolk, Lizet E., Hooning, Maartje J., Ausems, Margreet G. E. M., Mourits, Marian J. E., Blok, Marinus J., Rookus, Matti A., Van Der Luijt, Rob B., Van Cronenburg, T. C. T. E. F., Van Der Pol, Carmen C., Russell, Nicola S., Siesling, Sabine, Overbeek, Lucy, Wijnands, R., De Lange, Judith L., Clarke, Christine, Graham, Dinny, Sachchithananthan, Mythily, Marsh, Deborah, Scott, Rodney, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, and Simpson, Peter
Subjects: endocrine system diseases, 45/61, 45/43, article, 631/67/2324, 631/67/1347, 631/208/68, skin and connective tissue diseases, 692/499, 3. Good health
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 < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.

27. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Author: Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana, Torres-López, Diana María, 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, Heiko, 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., GEMO Study Collaborators, EMBRACE Collaborators, Margriet Collée, J., Conroy, Don M., Czene, Kamila, Daly, Mary B., Devilee, Peter, Diez, Orland, Chun Ding, Yuan, Domchek, Susan M., Dörk, Thilo, dos-Santos-Silva, Isabel, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Eliassen, Heather A., Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Flyger, Henrik, Fostira, Florentia, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M., Garber, Judy, Garcia-Barberan, Vanesa, García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., Gayther, Simon A., Gehrig, Andrea, Georgoulias, Vassilios, Giles, Graham G., Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hart, Steven N., He, Wei, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hopper, John L., Horcasitas, Darling J., Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., KConFab Investigators, HEBON Investigators, ABCTB Investigators, Jager, Agnes, Jakubowska, Anna, James, Paul A., Birk Jensen, Uffe, John, Esther M., Jones, Michael E., Kaaks, Rudolf, Middha Kapoor, Pooja, Karlan, Beth Y., Keeman, Renske, Khusnutdinova, Elza, Kiiski, Johanna I., Ko, Yon-Dschun, Kosma, Veli-Matti, Kraft, Peter, Kurian, Allison W., Laitman, Yael, Lambrechts, Diether, Marchand, Loic Le, Lester, Jenny, Lesueur, Fabienne, Lindstrom, Tricia, Lopez-Fernández, Adria, Loud, Jennifer T., Luccarini, Craig, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Milne, Roger L., Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nielsen, Finn C., O’Brien, Katie M., Olopade, Olufunmilayo I., Olson, Janet E., Olsson, Håkan, Osorio, Ana, Ottini, Laura, Park-Simon, Tjoung-Won, Parsons, Michael T., Pedersen, Inge Sokilde, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul D. P., Phillips, Kelly-Anne, Polley, Eric C., Poppe, Bruce, Presneau, Nadege, Pujana, Miquel Angel, Punie, Kevin, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad U., Rennert, Gad, Rennert, Hedy S., Robson, Mark, Romero, Atocha, Rossing, Maria, Saloustros, Emmanouil, Sandler, Dale P., Santella, Regina, Scheuner, Maren T., Schmidt, Marjanka K., Schmidt, Gunnar, Scott, Christopher, Sharma, Priyanka, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Steinsnyder, Zoe, Stone, Jennifer, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Terry, Mary Beth, Teulé, Alex, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Trainer, Alison H., Truong, Thérèse, Tung, Nadine, Vachon, Celine M., Vega, Ana, Vijai, Joseph, Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wolk, Alicja, Yadav, Siddhartha, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Park, Sue K., Thomassen, Mads, Offit, Kenneth, Schmutzler, Rita K., Couch, Fergus J., Simard, Jacques, Chenevix-Trench, Georgia, Easton, Douglas F., Andrieu, Nadine, Antoniou, Antonis C., Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana, Torres-López, Diana María, 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, Heiko, 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., GEMO Study Collaborators, EMBRACE Collaborators, Margriet Collée, J., Conroy, Don M., Czene, Kamila, Daly, Mary B., Devilee, Peter, Diez, Orland, Chun Ding, Yuan, Domchek, Susan M., Dörk, Thilo, dos-Santos-Silva, Isabel, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Eliassen, Heather A., Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Flyger, Henrik, Fostira, Florentia, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M., Garber, Judy, Garcia-Barberan, Vanesa, García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., Gayther, Simon A., Gehrig, Andrea, Georgoulias, Vassilios, Giles, Graham G., Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hart, Steven N., He, Wei, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hopper, John L., Horcasitas, Darling J., Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., KConFab Investigators, HEBON Investigators, ABCTB Investigators, Jager, Agnes, Jakubowska, Anna, James, Paul A., Birk Jensen, Uffe, John, Esther M., Jones, Michael E., Kaaks, Rudolf, Middha Kapoor, Pooja, Karlan, Beth Y., Keeman, Renske, Khusnutdinova, Elza, Kiiski, Johanna I., Ko, Yon-Dschun, Kosma, Veli-Matti, Kraft, Peter, Kurian, Allison W., Laitman, Yael, Lambrechts, Diether, Marchand, Loic Le, Lester, Jenny, Lesueur, Fabienne, Lindstrom, Tricia, Lopez-Fernández, Adria, Loud, Jennifer T., Luccarini, Craig, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Milne, Roger L., Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nielsen, Finn C., O’Brien, Katie M., Olopade, Olufunmilayo I., Olson, Janet E., Olsson, Håkan, Osorio, Ana, Ottini, Laura, Park-Simon, Tjoung-Won, Parsons, Michael T., Pedersen, Inge Sokilde, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul D. P., Phillips, Kelly-Anne, Polley, Eric C., Poppe, Bruce, Presneau, Nadege, Pujana, Miquel Angel, Punie, Kevin, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad U., Rennert, Gad, Rennert, Hedy S., Robson, Mark, Romero, Atocha, Rossing, Maria, Saloustros, Emmanouil, Sandler, Dale P., Santella, Regina, Scheuner, Maren T., Schmidt, Marjanka K., Schmidt, Gunnar, Scott, Christopher, Sharma, Priyanka, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Steinsnyder, Zoe, Stone, Jennifer, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Terry, Mary Beth, Teulé, Alex, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Trainer, Alison H., Truong, Thérèse, Tung, Nadine, Vachon, Celine M., Vega, Ana, Vijai, Joseph, Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wolk, Alicja, Yadav, Siddhartha, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Park, Sue K., Thomassen, Mads, Offit, Kenneth, Schmutzler, Rita K., Couch, Fergus J., Simard, Jacques, Chenevix-Trench, Georgia, Easton, Douglas F., Andrieu, Nadine, and Antoniou, Antonis C.

28. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

Author: Milne RL, Kuchenbaecker KB, Michailidou K, Beesley J, Kar S, Lindström S, Hui S, Lemaçon A, Soucy P, Dennis J, Jiang X, Rostamianfar A, Finucane H, Bolla MK, McGuffog L, Wang Q, Aalfs CM, Adams M, Adlard J, Agata S, Ahmed S, Ahsan H, Aittomäki K, Al-Ejeh F, Allen J, Ambrosone CB, Amos CI, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Auber B, Auer PL, Ausems MGEM, Azzollini J, Bacot F, Balmaña J, Barile M, Barjhoux L, Barkardottir RB, Barrdahl M, Barnes D, Barrowdale D, Baynes C, Beckmann MW, Benitez J, Bermisheva M, Bernstein L, Bignon YJ, Blazer KR, Blok MJ, Blomqvist C, Blot W, Bobolis K, Boeckx B, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Børresen-Dale AL, Bozsik A, Bradbury AR, Brand JS, Brauch H, Brenner H, Bressac-de Paillerets B, Brewer C, Brinton L, Broberg P, Brooks-Wilson A, Brunet J, Brüning T, Burwinkel B, Buys SS, Byun J, Cai Q, Caldés T, Caligo MA, Campbell I, Canzian F, Caron O, Carracedo A, Carter BD, Castelao JE, Castera L, Caux-Moncoutier V, Chan SB, Chang-Claude J, Chanock SJ, Chen X, Cheng TD, Chiquette J, Christiansen H, Claes KBM, Clarke CL, Conner T, Conroy DM, Cook J, Cordina-Duverger E, Cornelissen S, Coupier I, Cox A, Cox DG, Cross SS, Cuk K, Cunningham JM, Czene K, Daly MB, Damiola F, Darabi H, Davidson R, De Leeneer K, Devilee P, Dicks E, Diez O, Ding YC, Ditsch N, Doheny KF, Domchek SM, Dorfling CM, Dörk T, Dos-Santos-Silva I, Dubois S, Dugué PA, Dumont M, Dunning AM, Durcan L, Dwek M, Dworniczak B, Eccles D, Eeles R, Ehrencrona H, Eilber U, Ejlertsen B, Ekici AB, Eliassen AH, Engel C, Eriksson M, Fachal L, Faivre L, Fasching PA, Faust U, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Foulkes WD, Friedman E, Fritschi L, Frost D, Gabrielson M, Gaddam P, Gammon MD, Ganz PA, Gapstur SM, Garber J, Garcia-Barberan V, García-Sáenz JA, Gaudet MM, Gauthier-Villars M, Gehrig A, Georgoulias V, Gerdes AM, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Goodfellow P, Greene MH, Alnæs GIG, Grip M, Gronwald J, Grundy A, Gschwantler-Kaulich D, Guénel P, Guo Q, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hallberg E, Hamann U, Hamel N, Hankinson S, Hansen TVO, Harrington P, Hart SN, Hartikainen JM, Healey CS, Hein A, Helbig S, Henderson A, Heyworth J, Hicks B, Hillemanns P, Hodgson S, Hogervorst FB, Hollestelle A, Hooning MJ, Hoover B, Hopper JL, Hu C, Huang G, Hulick PJ, Humphreys K, Hunter DJ, Imyanitov EN, Isaacs C, Iwasaki M, Izatt L, Jakubowska A, James P, Janavicius R, Janni W, Jensen UB, John EM, Johnson N, Jones K, Jones M, Jukkola-Vuorinen A, Kaaks R, Kabisch M, Kaczmarek K, Kang D, Kast K, Keeman R, Kerin MJ, Kets CM, Keupers M, Khan S, Khusnutdinova E, Kiiski JI, Kim SW, Knight JA, Konstantopoulou I, Kosma VM, Kristensen VN, Kruse TA, Kwong A, Lænkholm AV, Laitman Y, Lalloo F, Lambrechts D, Landsman K, Lasset C, Lazaro C, Le Marchand L, Lecarpentier J, Lee A, Lee E, Lee JW, Lee MH, Lejbkowicz F, Lesueur F, Li J, Lilyquist J, Lincoln A, Lindblom A, Lissowska J, Lo WY, Loibl S, Long J, Loud JT, Lubinski J, Luccarini C, Lush M, MacInnis RJ, Maishman T, Makalic E, Kostovska IM, Malone KE, Manoukian S, Manson JE, Margolin S, Martens JWM, Martinez ME, Matsuo K, Mavroudis D, Mazoyer S, McLean C, Meijers-Heijboer H, Menéndez P, Meyer J, Miao H, Miller A, Miller N, Mitchell G, Montagna M, Muir K, Mulligan AM, Mulot C, Nadesan S, Nathanson KL, Neuhausen SL, Nevanlinna H, Nevelsteen I, Niederacher D, Nielsen SF, Nordestgaard BG, Norman A, Nussbaum RL, Olah E, Olopade OI, Olson JE, Olswold C, Ong KR, Oosterwijk JC, Orr N, Osorio A, Pankratz VS, Papi L, Park-Simon TW, Paulsson-Karlsson Y, Lloyd R, Pedersen IS, Peissel B, Peixoto A, Perez JIA, Peterlongo P, Peto J, Pfeiler G, Phelan CM, Pinchev M, Plaseska-Karanfilska D, Poppe B, Porteous ME, Prentice R, Presneau N, Prokofieva D, Pugh E, Pujana MA, Pylkäs K, Rack B, Radice P, Rahman N, Rantala J, Rappaport-Fuerhauser C, Rennert G, Rennert HS, Rhenius V, Rhiem K, Richardson A, Rodriguez GC, Romero A, Romm J, Rookus MA, Rudolph A, Ruediger T, Saloustros E, Sanders J, Sandler DP, Sangrajrang S, Sawyer EJ, Schmidt DF, Schoemaker MJ, Schumacher F, Schürmann P, Schwentner L, Scott C, Scott RJ, Seal S, Senter L, Seynaeve C, Shah M, Sharma P, Shen CY, Sheng X, Shimelis H, Shrubsole MJ, Shu XO, Side LE, Singer CF, Sohn C, Southey MC, Spinelli JJ, Spurdle AB, Stegmaier C, Stoppa-Lyonnet D, Sukiennicki G, Surowy H, Sutter C, Swerdlow A, Szabo CI, Tamimi RM, Tan YY, Taylor JA, Tejada MI, Tengström M, Teo SH, Terry MB, Tessier DC, Teulé A, Thöne K, Thull DL, Tibiletti MG, Tihomirova L, Tischkowitz M, Toland AE, Tollenaar RAEM, Tomlinson I, Tong L, Torres D, Tranchant M, Truong T, Tucker K, Tung N, Tyrer J, Ulmer HU, Vachon C, van Asperen CJ, Van Den Berg D, van den Ouweland AMW, van Rensburg EJ, Varesco L, Varon-Mateeva R, Vega A, Viel A, Vijai J, Vincent D, Vollenweider J, Walker L, Wang Z, Wang-Gohrke S, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wesseling J, Whittemore AS, Wijnen JT, Willett W, Winqvist R, Wolk A, Wu AH, Xia L, Yang XR, Yannoukakos D, Zaffaroni D, Zheng W, Zhu B, Ziogas A, Ziv E, Zorn KK, Gago-Dominguez M, Mannermaa A, Olsson H, Teixeira MR, Stone J, Offit K, Ottini L, Park SK, Thomassen M, Hall P, Meindl A, Schmutzler RK, Droit A, Bader GD, Pharoah PDP, Couch FJ, Easton DF, Kraft P, Chenevix-Trench G, García-Closas M, Schmidt MK, Antoniou AC, and Simard J
Subjects: Breast Neoplasms ethnology, Breast Neoplasms metabolism, Female, Genetic Predisposition to Disease ethnology, Genome-Wide Association Study methods, Heterozygote, Humans, Receptors, Estrogen metabolism, Risk Factors, White People genetics, BRCA1 Protein genetics, Breast Neoplasms genetics, Genetic Predisposition to Disease genetics, Mutation, Polymorphism, Single Nucleotide
Abstract: Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10 -8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.
Published: 2017
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28 results on '"Garcia-Barberan, Vanesa"'

1. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

2. Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.

3. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.

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

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

6. Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.

7. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

8. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

9. Circulating biomarkers for early detection and clinical management of colorectal cancer

10. Additional file 3: of Tumor burden monitoring using cell-free tumor DNA could be limited by tumor heterogeneity in advanced breast cancer and should be evaluated together with radiographic imaging

11. Additional file 4: of Tumor burden monitoring using cell-free tumor DNA could be limited by tumor heterogeneity in advanced breast cancer and should be evaluated together with radiographic imaging

12. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

13. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

14. Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition

15. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

16. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

17. Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

18. Tumor burden monitoring using cell-free tumor DNA could be limited by tumor heterogeneity in advanced breast cancer and should be evaluated together with radiographic imaging

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

20. Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

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

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

23. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

24. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

25. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

26. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

27. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

28. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

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28 results on '"Garcia-Barberan, Vanesa"'

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