Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Paolo Peterlongo J. Chang-Claude Kirsten Moysich Anja Rudolph Rita Schmutzler Jacques Simard Penny Soucy Rosalind Tea Douglas Easton Ute Hamann Stefan Wilkening Bowang Chen Matti Rookus Marjanka Schmidt Frederieke van der Baan Amanda Spurdle Logan Walker Felicity Lose Ana Mai Marc Montagna Laura Matricardi Jan Lubinski Anna Jakubowska Encarna Gómez Garcia Olufunmilayo Olopade Robert Nussbaum Katherine Nathanson Susan Domchek Timothy Rebbeck Anders Arun Beth Karlan Sandra Orsulic Jenny Lester Wendy Chung Alex Miron Melissa Southey David Goldgar Saundra Buys Ramunas Janavicius Cecilia Dorfling Elizabeth van Rensburg Yuan Chun Ding Susan Neuhausen Hans Hansen Anne-Marie Gerdes Bent Ejlertsen Lars Jønson Ana Osorio Cristina Martínez-Bouzas Javier Benitez Edye Conway Kathleen Blazer Jeffrey Weitzel Siranoush Manoukian Bernard Peissel Daniel Zaffaroni Giulietta Scuvera Monica Barile Filomena Ficarazzi Frederique Mariette Stefano Fortuzzi Alessandra Viel Giuseppe Giannini Laura Papi Aline Martayan Maria Grazia Tibiletti Paolo Radice Athanassios Vratimos Florentia Fostira Judy Garber Michael Donaldson Carole Brewer Claire Foo D Gareth R Evans Debra Frost Diana Eccles Angela Kennedy Jackie Cook Marc Tischkowitz Julian Lee Julian Barwell Lisa Walker Louise Izatt Lucy Side M John Kennedy Mark Rogers Mary Porteous Patrick Morrison Radka Platte Rosemarie Davidson Georg Hodgson Steve Ellis Trevor Cole Andrew Godwin Kathleen Claes Tom van Maerken Alfons Meindl Andrea Gehrig Christian Sutter Christoph Engel Dieter Niederacher Doris Steinemann Hans Plendl Karin Kast Kerstin Rhiem Nina Ditsch Norbert Arnold Raymonda Varon-Mateeva Barbara Wappenschmidt Shan Wang Brigitte Bressac-de Paillerets Bruno Buecher Capucine Delnatte Claude Houdayer Dominique Stoppa-Lyonnet Francesca Damiola Isabelle Coupier Laure Barjhoux Lauren Venat-Bouvet Lisa Golmard Nadia Boutry-Kryza Olga Sinilnikova Olivier Caron Pascal Pujol 1, 2 Sylvie Mazoyer Muriel Belotti Marion Piedmonte Michael Friedlander Gustavo Rodriguez Larry Copeland Miguel de la Hoya Pedro Perez Segura Heli Nevanlinna Kristiina Aittomäki Theo van Os Hanne Meijers-Heijboer Annemarie van der Hout Maaike Vreeswijk Nicoline Hoogerbrugge Margreet Ausems Helena van Doorn J Margriet Collée Edith Olah Orland Diez Ignacio Blanco Conxi Lazaro Joan Brunet Lídia Feliubadaló Cezary Cybulski Jacek Gronwald Katarzyna Durda Katarzyna Jaworska-Bieniek Grzegorz Sukiennicki Adalgeir Arason Jocelyne Chiquette Manuel Teixeira Curtis Olswold Fergus Couch Noralane Lindor Xianshu Wang Csilla Szabo Kenneth Offit Marina Corines Lauren Jacobs Mark Robson Liying Zhang Vijai Joseph Andreas Berger Christian Singer Christine Rappaport Daphne Geschwantler Kaulich Georg Pfeiler Muy-Kheng Tea Catherine Phelan Mark Greene Phuong Mai Gad Rennert Anna Mulligan Gord Glendon Sandrine Tchatchou Irene Andrulis Amanda Ewart 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 Pharoah Georgia Chenevix-Trench Antonis Antoniou Eitan Friedman K. Schmutzler A. Eeles A. Rookus K. Schmidt A. Maia B. Gomez Garcia R. Rebbeck K. Arun K. Chung M. Dorfling J. van Rensburg C. Ding O. Hansen L. Jonson C. Martinez-Bouzas A. Donaldson R. Evans A. Brady J. Adlard J. Kennedy S. Hodgson K. Godwin S. Wang-Gohrke M. Sinilnikova C. Rodriguez J. Copeland K. Aittomaki A. van Os J. Meijers-Heijboer P. Vreeswijk C. van Doorn J. Collee R. Teixeira J. Couch M. Lindor F. Singer K. Tea M. Phelan L. Andrulis S. Pedersen S. Askmalm A. Borg G. Chen
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.
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https://hal.umontpellier.fr/hal-02192226
Contributeur : Cécile Nowak <>
Soumis le : mardi 23 juillet 2019 - 17:17:49
Dernière modification le : vendredi 22 novembre 2019 - 18:34:02

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Paolo Peterlongo, J. Chang-Claude, Kirsten Moysich, Anja Rudolph, Rita Schmutzler, et al.. Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. Cancer Epidemiology, Biomarkers and Prevention, American Association for Cancer Research, 2015, 24 (1), pp.308-316. ⟨10.1158/1055-9965.EPI-14-0532⟩. ⟨hal-02192226⟩

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