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2023
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Data from Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
Fergus J. Couch, Mia M. Gaudet, Antonis C. Antoniou, Susan J. Ramus, Karoline Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xianshu Wang, Tomas Kirchhoff, Lesley McGuffog, Daniel Barrowdale, Andrew Lee, Sue Healey, Olga M. Sinilnikova, Irene L. Andrulis, Hilmi Özçelik, Anna Marie Mulligan, Mads Thomassen, Anne‐Marie Gerdes, Uffe Birk Jensen, Anne‐Bine Skytte, Torben A. Kruse, Maria A. Caligo, Anna von Wachenfeldt, Gisela Barbany, Niklas Loman, Maria Soller, Hans Ehrencrona, Per Karlsson, Katherine L. Nathanson, Timothy R. Rebbeck, Susan M. Domchek, Jan Lubiński, Katarzyna Jaworska, Katarzyna Durda, Elżbieta Złowocka, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Cezary Cybulski, Bohdan Górski, Ana Osório, M. Durán, María‐Isabel Tejada, Javier Benı́tez, Ute Hamann, Frans B.L. Hogervorst, Theo A. van Os, Flora E. van Leeuwen, Hanne Meijers‐Heijboer, Juul Wijnen, Marinus J. Blok, Marleen Kets, Maartje J. Hooning, Rogier A. Oldenburg, Margreet G.E.M. Ausems, Susan Peock, Debra Frost, Steve D. Ellis, Radka Platte, Elena Fineberg, D. Gareth Evans, Chris Jacobs, Rosalind A. Eeles, Julian Adlard, Rosemarie Davidson, Trevor Cole, Jackie Cook, Joan Paterson, Carole Brewer, Fiona Douglas, Shirley V. Hodgson, Patrick J. Morrison, Lisa Walker, Mary Porteous, Maura Kennedy, Lucy Side, Betsy Bove, Andrew K. Godwin, Dominique Stoppa‐Lyonnet, Marion Fassy-Colcombet, Laurent Castéra, François Cornelis, Sylvie Mazoyer, Mélanie Léoné, Nadia Boutry‐Kryza, Brigitte Bressac–de Paillerets, Olivier Caron, Pascal Pujol, Isabelle Coupier, Capucine Delnatte, Linda Akloul, Henry T. Lynch, Carrie Snyder, Saundra S. Buys, Mary B. Daly, Mary Beth Terry, Wendy K. Chung, Esther M. John, Alexander Miron, Melissa C. Southey, John L. Hopper, David E. Goldgar, Christian F. Singer, Christine Rappaport, Muy‐Kheng M. Tea, Anneliese Fink-Retter, Thomas van Overeem Hansen, Finn C. Nielsen, Aðalgeir Arason, Joseph Vijai, Sohela Shah, Kara Sarrel, Mark E. Robson, Marion Piedmonte, Jack Basil, Wendy S. Rubinstein, John F. Boggess, Katie Wakeley, Amanda E. Toland, Marco Montagna, Simona Agata, Evgeny N. Imyanitov, Claudine Isaacs, Ramūnas Janavičius, Conxi Lázaro, Ignacio Blanco, Lídia Feliubadaló, Joan Brunet, Simon A. Gayther, Paul D.P. Pharoah, Kunle Odunsi, Beth Y. Karlan, Christine Walsh, Edith Oláh, Soo‐Hwang Teo, Patricia A. Ganz, Mary Beattie, Elizabeth J. van Rensburg, Cecelia M. Dorfling, Orland Dı́ez, Ava Kwong, Rita K. Schmutzler, Barbara Wappenschmidt, Christoph Engel, Alfons Meindl, Nina Ditsch, Norbert Arnold, Simone Heidemann, Dieter Niederacher, Sabine Preisler‐Adams, Dorothea Gadzicki, Raymonda Varon-Mateeva, Helmut Deißler, Andrea Gehrig, Christian Sutter, Karin Kast, Britta Fiebig, Wolfram Heinritz, Trinidad Caldés, Miguel de la Hoya, Taru Muranen, Heli Nevanlinna, Marc Tischkowitz, Amanda B. Spurdle, Susan L. Neuhausen, Yuan Chun Ding, Noralane M. Lindor, Zachary Fredericksen, V. Shane Pankratz, Paolo Peterlongo, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Monica Barile, Loris Bernard, Alessandra Viel, Giuseppe Giannini, Liliana Varesco, Paolo Radice, Mark H. Greene, Douglas F. Easton, Georgia Chenevix‐Trench, Kenneth Offit, Jacques Simard
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Le résumé fourni par la source
Abstract Background: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Methods: Genotyping data for 12,599 BRCA1 and 7,132 BRCA2 mutation carriers from 40 studies were combined. Results: We confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers [HR, 1.17; 95% confidence interval (CI), 1.07–1.27; P = 7.42 × 10−4] and between rs16917302 at ZNF365 (HR, 0.84; 95% CI, 0.73–0.97; P = 0.017) but not rs311499 at 20q13.3 (HR, 1.11; 95% CI, 0.94–1.31; P = 0.22) and breast cancer risk for BRCA2 mutation carriers. Analyses based on tumor histopathology showed that 19p13 variants were predominantly associated with estrogen receptor (ER)-negative breast cancer for both BRCA1 and BRCA2 mutation carriers, whereas rs16917302 at ZNF365 was mainly associated with ER-positive breast cancer for both BRCA1 and BRCA2 mutation carriers. We also found for the first time that rs67397200 at 19p13.1 was associated with an increased risk of ovarian cancer for BRCA1 (HR, 1.16; 95% CI, 1.05–1.29; P = 3.8 × 10−4) and BRCA2 mutation carriers (HR, 1.30; 95% CI, 1.10–1.52; P = 1.8 × 10−3). Conclusions: 19p13.1 and ZNF365 are susceptibility loci for ovarian cancer and ER subtypes of breast cancer among BRCA1 and BRCA2 mutation carriers. Impact: These findings can lead to an improved understanding of tumor development and may prove useful for breast and ovarian cancer risk prediction for BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev; 21(4); 645–57. ©2012 AACR.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé, mais le titre doit être comparé manuellement.
- Titre Crossref
- Data from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
- Date Crossref
- 31/03/2023
- Éditeur
- American Association for Cancer Research (AACR)
- Type
- posted-content
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Les sujets associés
BRCA gene mutations in cancerCRISPR and Genetic EngineeringGenetic Associations and Epidemiology