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 F. Easton; Ute Hamann; Stefan Wilkening; Bowang Chen; Matti A. Rookus; Marjanka Schmidt; Frederieke van Der Baan; Amanda B. Spurdle; Logan Walker; Felicity Lose; Ana Mai; Marc Montagna; Laura Matricardi; Jan Lubinski; Anna Jakubowska; Encarna Gómez Garcia; Olufunmilayo Olopade; Robert Nussbaum; Katherine L. Nathanson; Susan M. Domchek; Timothy Rebbeck; Anders Arun; Beth Karlan; Sandra Orsulic; Jenny Lester; Wendy Chung; Alex Miron; Melissa Southey; David E. Goldgar; Saundra Buys; Ramunas Janavicius; Cecilia Dorfling; Elizabeth Jansen 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 K. 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; 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 R Teixeira; Curtis Olswold; Fergus J. Couch; Noralane M. 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 H. Greene; Phuong Mai; Gad Rennert; Anna Marie 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 C. 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

doi:10.1158/1055-9965.EPI-14-0532

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

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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 F. Easton, Ute Hamann, …

Cancer Epidemiology, Biomarkers and Prevention, Vol.24(1), pp.308-316

13/01/2015

DOI: https://doi.org/10.1158/1055-9965.EPI-14-0532

PMCID: PMC4294951

PMID: 25336561

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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Title: Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
Creators - without role: Paolo Peterlongo - IFOM
J. Chang-Claude - German Cancer Research Center
Kirsten Moysich - Roswell Park Comprehensive Cancer Center
Anja Rudolph - German Cancer Research Center
Rita Schmutzler - University Hospital Cologne
Jacques Simard - Centre hospitalier universitaire de Québec
Penny Soucy - Université Laval
Rosalind Tea
Douglas F. Easton - University of Cambridge
Ute Hamann - German Cancer Research Center
Stefan Wilkening - German Cancer Research Center
Bowang Chen - German Cancer Research Center
Matti A. Rookus - The Netherlands Cancer Institute
Marjanka Schmidt - The Netherlands Cancer Institute
Frederieke van Der Baan - Oncode Institute
Amanda B. Spurdle - QIMR Berghofer Medical Research Institute
Logan Walker - University of Otago
Felicity Lose - QIMR Berghofer Medical Research Institute
Ana Mai
Marc Montagna
Laura Matricardi - Istituto Oncologico Veneto
Jan Lubinski - Pomeranian Medical University
Anna Jakubowska - Pomeranian Medical University
Encarna Gómez Garcia
Olufunmilayo Olopade - University of Chicago Medical Center
Robert Nussbaum - University of California, San Francisco
Katherine L. Nathanson - University of Pennsylvania
Susan M. Domchek - University of Pennsylvania
Timothy Rebbeck - University of Pennsylvania
Anders Arun
Beth Karlan - Cedars-Sinai Medical Center
Sandra Orsulic - Cedars-Sinai Medical Center
Jenny Lester - Cedars-Sinai Medical Center
Wendy Chung - Columbia University
Alex Miron - Case Western Reserve University
Melissa Southey - University of Melbourne
David E. Goldgar - University of Utah
Saundra Buys - Huntsman Cancer Institute
Ramunas Janavicius - Vilnius University
Cecilia Dorfling - University of Pretoria
Elizabeth Jansen van Rensburg - University of Pretoria
Yuan Chun Ding - City of Hope
Susan Neuhausen - City of Hope
Hans Hansen
Anne-Marie Gerdes
Bent Ejlertsen - Copenhagen University Hospital
Lars Jønson - Copenhagen University Hospital
Ana Osorio - Spanish National Cancer Research Centre
Cristina Martínez-Bouzas - Hospital de Cruces
Javier Benitez
Edye Conway - Cancer Genetics
Kathleen Blazer - City of Hope
Jeffrey Weitzel - City of Hope
Siranoush Manoukian - Fondazione IRCCS Istituto Nazionale dei Tumori
Bernard Peissel - Fondazione IRCCS Istituto Nazionale dei Tumori
Daniel Zaffaroni
Giulietta Scuvera - Fondazione IRCCS Istituto Nazionale dei Tumori
Monica Barile - European Institute of Oncology
Filomena Ficarazzi - IFOM
Frederique Mariette - IFOM
Stefano Fortuzzi - IFOM
Alessandra Viel - Centro di Riferimento Oncologico
Giuseppe Giannini - Sapienza University of Rome
Laura Papi - University of Florence
Aline Martayan - Instituto Nazionale Tumori Regina Elena
Maria Grazia Tibiletti - Ospedale di Circolo e Fondazione Macchi
Paolo Radice - Fondazione IRCCS Istituto Nazionale dei Tumori
Athanassios Vratimos - National Centre of Scientific Research "Demokritos"
Florentia Fostira - National Centre of Scientific Research "Demokritos"
Judy Garber - Dana-Farber Cancer Institute
Michael Donaldson
Carole Brewer - Royal Devon and Exeter Hospital
Claire Foo - Liverpool Womens NHS Foundation Trust
D Gareth R Evans
Debra Frost - University of Cambridge
Diana Eccles - University of Southampton
Angela Kennedy
Jackie Cook - Sheffield Children's Hospital
Marc Tischkowitz - Addenbrooke's Hospital
Julian Lee
Julian Barwell - University Hospitals of Leicester NHS Trust
Lisa Walker - Churchill Hospital
Louise Izatt - Guy's and St Thomas' NHS Foundation Trust
Lucy Side - Great Ormond Street Hospital
M John Kennedy - St. James's Hospital
Mark Rogers - University Hospital of Wales
Mary Porteous - Western General Hospital
Patrick Morrison
Radka Platte - University of Cambridge
Rosemarie Davidson - Southern General Hospital
Georg Hodgson
Steve Ellis
Trevor Cole - Birmingham Women's Hospital
Andrew K. Godwin - University of Kansas Medical Center
Kathleen Claes - Ghent University Hospital
Tom van Maerken - Ghent University Hospital
Alfons Meindl - Klinikum rechts der Isar
Andrea Gehrig - University of Würzburg
Christian Sutter - Heidelberg University
Christoph Engel - Leipzig University
Dieter Niederacher - Heinrich Heine University Düsseldorf
Doris Steinemann - Medizinische Hochschule Hannover
Hans Plendl
Karin Kast - University Hospital Carl Gustav Carus
Kerstin Rhiem - University Hospital Cologne
Nina Ditsch
Norbert Arnold - University Hospital Schleswig-Holstein
Raymonda Varon-Mateeva - Charité - Universitätsmedizin Berlin
Barbara Wappenschmidt - University Hospital Cologne
Shan Wang
Brigitte Bressac-de Paillerets
Bruno Buecher - Institut Curie
Capucine Delnatte - Centre Hospitalier René-Dubos
Claude Houdayer - Université Paris Cité
Dominique Stoppa-Lyonnet - Institut Curie
Francesca Damiola - Université Claude Bernard Lyon 1
Isabelle Coupier - CEA Valduc
Laure Barjhoux - CEA Valduc
Lauren Venat-Bouvet
Lisa Golmard - Institut Curie
Nadia Boutry-Kryza - Hospices Civils de Lyon
Olga Sinilnikova - IFOM
Olivier Caron - Institut Gustave Roussy
Pascal Pujol - Université de Montpellier, Institut de Recherche en Cancérologie de Montpellier - IRCM
Sylvie Mazoyer - Inserm
Muriel Belotti - Institut Curie
Marion Piedmonte - Gynecologic Oncology Group
Michael Friedlander - Australia New Zealand Gynaecological Oncology Group
Gustavo Rodriguez - NorthShore University HealthSystem
Larry Copeland - Ohio University
Miguel de La Hoya - Hospital Clínico San Carlos
Pedro Perez Segura - Instituto de Investigación Sanitaria del Hospital Clínico San Carlos
Heli Nevanlinna - University of Helsinki
Kristiina Aittomäki - Helsinki University Hospital
Theo van Os
Hanne Meijers-Heijboer
Annemarie van Der Hout - University Medical Center Groningen
Maaike Vreeswijk
Nicoline Hoogerbrugge - Radboud University Medical Center
Margreet Ausems
Helena van Doorn - Erasmus MC Cancer Institute
J Margriet Collée
Edith Olah - National Institute of Oncology
Orland Diez
Ignacio Blanco - Institut Català d'Oncologia
Conxi Lazaro - Institut Català d'Oncologia
Joan Brunet - Institut Català d'Oncologia
Lídia Feliubadaló - University of Iceland
Cezary Cybulski - Pomeranian Medical University
Jacek Gronwald - Pomeranian Medical University
Katarzyna Durda - Pomeranian Medical University
Katarzyna Jaworska-Bieniek
Grzegorz Sukiennicki - Pomeranian Medical University
Adalgeir Arason
Jocelyne Chiquette - Centre hospitalier universitaire de Québec
Manuel R Teixeira - Instituto Português de Oncologia Francisco Gentil
Curtis Olswold - Mayo Clinic in Florida
Fergus J. Couch - Mayo Clinic in Florida
Noralane M. Lindor - Mayo Clinic in Arizona
Xianshu Wang
Csilla Szabo - National Human Genome Research Institute
Kenneth Offit - Memorial Sloan Kettering Cancer Center
Marina Corines - Memorial Sloan Kettering Cancer Center
Lauren Jacobs - Memorial Sloan Kettering Cancer Center
Mark Robson - Memorial Sloan Kettering Cancer Center
Liying Zhang - Memorial Sloan Kettering Cancer Center
Vijai Joseph
Andreas Berger - Comprehensive Cancer Center Vienna
Christian Singer - Medical University of Vienna
Christine Rappaport - Medical University of Vienna
Daphne Geschwantler Kaulich - Comprehensive Cancer Center Vienna
Georg Pfeiler - Medical University of Vienna
Muy-Kheng Tea - Comprehensive Cancer Center Vienna
Catherine Phelan - Moffitt Cancer Center
Mark H. Greene - Division of Cancer Epidemiology and Genetics
Phuong Mai
Gad Rennert
Anna Marie Mulligan - University of Toronto
Gord Glendon - Lunenfeld-Tanenbaum Research Institute
Sandrine Tchatchou - Lunenfeld-Tanenbaum Research Institute
Irene Andrulis - Mount Sinai Hospital
Amanda Ewart Toland - The Ohio State University
Anders Bojesen - Vejle Sygehus
Inge Søkilde Pedersen - Aalborg University Hospital
Mads Thomassen - Odense University Hospital
Uffe Birk Jensen - Aarhus University Hospital
Yael Laitman - Sheba Medical Center
Johanna Rantala - Karolinska University Hospital
Anna von Wachenfeldt - Karolinska University Hospital
Hans Ehrencrona - Uppsala University
Marie Stenmark Askmalm - Linköping University
Åke Borg - Lund University
Karoline Kuchenbaecker - University of Cambridge
Lesley Mcguffog - University of Cambridge
Daniel Barrowdale - University of Cambridge
Sue Healey - QIMR Berghofer Medical Research Institute
Andrew Lee - University of Cambridge
Paul Pharoah
Georgia Chenevix-Trench - QIMR Berghofer Medical Research Institute
Antonis C. Antoniou - University of Cambridge
Eitan Friedman - Sheba Medical Center
K. Schmutzler
A. Eeles
A. Rookus
K. Schmidt
A. Maia - University of Algarve
B. Gomez Garcia
R. Rebbeck
K. Arun
K. Chung
M. Dorfling
J. van Rensburg
C. Ding
O. Hansen
L. Jonson
C. Martinez-Bouzas - Hospital de Cruces
A. Donaldson - St Michael's Hospital
R. Evans
A. Brady - Wessex Regional Genetics Laboratory
J. Adlard - Wessex Regional Genetics Laboratory
J. Kennedy
S. Hodgson - St George's, University of London
K. Godwin
S. Wang-Gohrke - University Hospital Ulm
M. Sinilnikova
C. Rodriguez
J. Copeland
K. Aittomaki - Helsinki University Hospital
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 - Lund University
G. Chen
Publication Details: Cancer Epidemiology, Biomarkers and Prevention, Vol.24(1), pp.308-316
Identifiers: 9944126609311
Academic Unit: Institut de Recherche en Cancérologie de Montpellier - IRCM; Maladies Infectieuses et Vecteurs : Ecologie, Génétique, Evolution et Contrôle - MIVEGEC
Language: English
Resource Type: Journal article
Local Fields: hal-02192226