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2023
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Data from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
Paolo Peterlongo, Jenny Chang‐Claude, Kirsten B. Moysich, Anja Rudolph, Rita K. Schmutzler, Jacques Simard, Penny Soucy, Rosalind A. Eeles, Douglas F. Easton, Ute Hamann, Stefan Wilkening, Bowang Chen, Matti A. Rookus, Marjanka K. Schmidt, Frederieke H. van der Baan, Amanda B. Spurdle, Logan C. Walker, Felicity Lose, Ana-Teresa Maia, Marco Montagna, Laura Matricardi, Jan Lubiński, Anna Jakubowska, E. Gómez, Olufunmilayo I. Olopade, Robert L. Nussbaum, Katherine L. Nathanson, Susan M. Domchek, Timothy R. Rebbeck, Banu Arun, Beth Y. Karlan, Sandra Oršulić, Jenny Lester, Wendy K. Chung, Alex Miron, Melissa C. Southey, David E. Goldgar, Saundra S. Buys, Ramūnas Janavičius, Cecilia M. Dorfling, Elizabeth J. van Rensburg, Yuan Chun Ding, Susan L. Neuhausen, Thomas van Overeem Hansen, Anne‐Marie Gerdes, Bent Ejlertsen, Lars Jønson, Ana Osório, Cristina Martínez-Bouzas, Javier Benı́tez, Edye E. Conway, Kathleen R. Blazer, Jeffrey N. Weitzel, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Giulietta Scuvera, Monica Barile, Filomena Ficarazzi, Frédérique Mariette, Stefano Fortuzzi, Alessandra Viel, Giuseppe Giannini, Laura Papi, Aline Martayan, Maria Grazia Tibiletti, Paolo Radice, Athanassios Vratimos, Florentia Fostira, Judy E. Garber, Alan Donaldson, Carole Brewer, Claire Foo, D. Gareth Evans, Debra Frost, Diana Eccles, Angela Brady, Jackie Cook, Marc Tischkowitz, Julian Adlard, Julian Barwell, Lisa Walker, Louise Izatt, Lucy Side, Maura Kennedy, Mark T. Rogers, Mary Porteous, Patrick J. Morrison, Radka Platte, Rosemarie Davidson, Shirley V. Hodgson, Trevor Cole, Andrew K. Godwin, Kathleen Claes, Tom Van Maerken, Alfons Meindl, Andrea Gehrig, Christian Sutter, Christoph Engel, Dieter Niederacher, Doris Steinemann, Hansjoerg Plendl, Karin Kast, Kerstin Rhiem, Nina Ditsch, Norbert Arnold, Raymonda Varon-Mateeva, Barbara Wappenschmidt, Shan Wang‐Gohrke, Brigitte Bressac–de Paillerets, Bruno Buecher, Capucine Delnatte, Claude Houdayer, Dominique Stoppa‐Lyonnet, Francesca Damiola, Isabelle Coupier, Laure Barjhoux, Laurence Venat‐Bouvet, Lisa Golmard, Nadia Boutry‐Kryza, Olga M. Sinilnikova, Olivier Caron, Pascal Pujol, Sylvie Mazoyer, Muriel Belotti, Marion Piedmonte, Michael Friedländer, Gustavo C. Rodriguez, Larry J. Copeland, Miguel de la Hoya, Pedro Pérez Segura, Heli Nevanlinna, Kristiina Aittomäki, Theo A.M. van Os, Hanne Meijers‐Heijboer, Annemarie H. van der Hout, Maaike P.G. Vreeswijk, Margreet G.E.M. Ausems, Helena C. van Doorn, J. Margriet Collée, Edith Oláh, Orland Dı́ez, Ignacio Blanco, Conxi Lázaro, Joan Brunet, Lídia Feliubadaló, Cezary Cybulski, Jacek Gronwald, Katarzyna Durda, Katarzyna Jaworska–Bieniek, Grzegorz Sukiennicki, Aðalgeir Arason, Jocelyne Chiquette, Manuel R. Teixeira, Curtis Olswold, Fergus J. Couch, Noralane M. Lindor, Xianshu Wang, Csilla I. Szabo, Kenneth Offit, Marina Corines, Lauren Jacobs, Mark E. Robson, Liying Zhang, Joseph Vijai, Andreas Berger, Christian F. Singer, Christine Rappaport, Daphne Geschwantler Kaulich, Georg Pfeiler, Muy‐Kheng M. Tea, Catherine M. Phelan, Mark H. Greene, Gad Rennert, Anna Marie Mulligan, Gord Glendon, Sandrine Tchatchou, Irene L. Andrulis, Amanda E. Toland, Anders Bojesen, Inge Søkilde Pedersen, Mads Thomassen, Uffe Birk Jensen, Yael Laitman, Johanna Rantala, Anna von Wachenfeldt, Hans Ehrencrona, Marie Stenmark Askmalm, Åke Borg, Karoline Kuchenbaecker, Lesley McGuffog, Daniel Barrowdale, Sue Healey, Andrew Lee, Paul D.P. Pharoah, Georgia Chenevix‐Trench, Antonis C. Antoniou, Eitan Friedman
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Résumé fourni par la source
Abstract Background:BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same mutation suggests the existence of genetic and nongenetic modifying factors. In this study, we evaluated the putative role of variants in many candidate modifier genes. Methods: Genotyping data from 15,252 BRCA1 and 8,211 BRCA2 mutation carriers, for known variants (n = 3,248) located within or around 445 candidate genes, were available through the iCOGS custom-designed array. Breast and ovarian cancer association analysis was performed within a retrospective cohort approach. Results: The observed P values of association ranged between 0.005 and 1.000. None of the variants was significantly associated with breast or ovarian cancer risk in either BRCA1 or BRCA2 mutation carriers, after multiple testing adjustments. Conclusion: There is little evidence that any of the evaluated candidate variants act as modifiers of breast and/or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers. Impact: Genome-wide association studies have been more successful at identifying genetic modifiers of BRCA1/2 penetrance than candidate gene studies. Cancer Epidemiol Biomarkers Prev; 24(1); 308–16. ©2014 AACR.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé, mais le titre doit être comparé manuellement.
- Titre Crossref
- Data from Candidate Genetic Modifiers for Breast 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 ne compte pas comme une seconde source scientifique indépendante.
Sujets associés
BRCA gene mutations in cancerCRISPR and Genetic EngineeringGenetics, Bioinformatics, and Biomedical Research