Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Antonis C Antoniou; Christiana Kartsonaki; Olga M Sinilnikova; Penny Soucy; Lesley Mcguffog; Sue Healey; Andrew Lee; Paolo Peterlongo; Siranoush Manoukian; Bernard Peissel; Daniela Zaffaroni; Elisa Cattaneo; Monica Barile; Valeria Pensotti; Barbara Pasini; Riccardo Dolcetti; Giuseppe Giannini; Anna Laura Putignano; Liliana Varesco; Paolo Radice; Phuong L Mai; Mark H Greene; Irene L Andrulis; Gord Glendon; Hilmi Ozcelik; Mads Thomassen; Anne-Marie Gerdes; Torben A Kruse; Uffe Birk Jensen; Dorthe G Crüger; Maria A Caligo; Yael Laitman; Roni Milgrom; Bella Kaufman; Shani Paluch-Shimon; Eitan Friedman; Niklas Loman; Katja Harbst; Annika Lindblom; Brita Arver; Hans Ehrencrona; Beatrice Melin; Katherine L Nathanson; Susan M Domchek; Timothy Rebbeck; Ania Jakubowska; Jan Lubinski; Jacek Gronwald; Tomasz Huzarski; Tomasz Byrski; Cezary Cybulski; Bohdan Gorski; Ana Osorio; Teresa Ramón y Cajal; Florentia Fostira; Raquel Andrés; Javier Benitez; Ute Hamann; Frans B Hogervorst; Matti A Rookus; Maartje J Hooning; Marcel R Nelen; Rob B van Der Luijt; Theo a M van Os; Christi J van Asperen; Peter Devilee; Hanne E J Meijers-Heijboer; Encarna B Gómez Garcia; Susan Peock; Margaret Cook; Debra Frost; Radka Platte; Jean Leyland; D Gareth Evans; Fiona Lalloo; Ros Eeles; Louise Izatt; Julian Adlard; Rosemarie Davidson; Diana Eccles; Kai-Ren Ong; Jackie Cook; Fiona Douglas; Joan Paterson; M John Kennedy; Zosia Miedzybrodzka; Andrew Godwin; Dominique Stoppa-Lyonnet; Bruno Buecher; Muriel Belotti; Carole Tirapo; Sylvie Mazoyer; Laure Barjhoux; Christine Lasset; Dominique Leroux; Laurence Faivre; Myriam Bronner; Fabienne Prieur; Catherine Nogues; Etienne Rouleau; Pascal Pujol; Isabelle Coupier; Marc Frénay; John L Hopper; Mary B Daly; Mary B Terry; Esther M John; Saundra S Buys; Yosuf Yassin; Alexander Miron; David Goldgar; Christian F Singer; Muy-Kheng Tea; Georg Pfeiler; Anne Catharina Dressler; Thomas V O Hansen; Lars Jønson; Bent Ejlertsen; Rosa Bjork Barkardottir; Tomas Kirchhoff; Kenneth Offit; Marion Piedmonte; Gustavo Rodriguez; Laurie Small; John Boggess; Stephanie Blank; Jack Basil; Masoud Azodi; Amanda Ewart Toland; Marco Montagna; Silvia Tognazzo; Simona Agata; Evgeny Imyanitov; Ramunas Janavicius; Conxi Lazaro; Ignacio Blanco; Paul D P Pharoah; Lara Sucheston; Beth y Karlan; Christine S Walsh; Edith Olah; Aniko Bozsik; Soo-Hwang Teo; Joyce L Seldon; Mary S Beattie; Elizabeth J van Rensburg; Michelle D Sluiter; Orland Diez; Rita K Schmutzler; Barbara Wappenschmidt; Christoph Engel; Alfons Meindl; Ina Ruehl; Raymonda Varon-Mateeva; Karin Kast; Helmut Deissler; Dieter Niederacher; Norbert Arnold; Dorothea Gadzicki; Ines Schönbuchner; Trinidad Caldes; Miguel de La Hoya; Heli Nevanlinna; Kristiina Aittomäki; Martine Dumont; Jocelyne Chiquette; Marc Tischkowitz; Xiaoqing Chen; Jonathan Beesley; Amanda B Spurdle; Susan L Neuhausen; Yuan Chun Ding; Zachary Fredericksen; Xianshu Wang; Vernon S Pankratz; Fergus Couch; Jacques Simard; Douglas F Easton; Georgia Chenevix-Trench; Non Renseigné

doi:10.1093/hmg/ddr226

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Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.

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Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Antonis C Antoniou, Christiana Kartsonaki, Olga M Sinilnikova, Penny Soucy, Lesley Mcguffog, Sue Healey, Andrew Lee, Paolo Peterlongo, Siranoush Manoukian, Bernard Peissel, …

Human Molecular Genetics, Vol.20(16), pp.3304-21

15/08/2011

DOI: https://doi.org/10.1093/hmg/ddr226

PMCID: PMC3652640

PMID: 21593217

Abstract

Adult

Aged

BRCA1 Protein

BRCA2 Protein

Breast Neoplasms

Chromosomes, Human

Chromosomes, Human, Pair 1

Chromosomes, Human, Pair 6

Female

Genetic Predisposition to Disease

Heterozygote

Humans

Middle Aged

Mutation

Polymorphism, Single Nucleotide

Risk Factors

Alleles

Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r(2) = 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11-1.23, P-trend = 4.5 × 10(-9) for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 × 10(-8) for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.

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Title: Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Creators - without role: Antonis C Antoniou
Christiana Kartsonaki - Centre for Cancer Genetic Epidemiology
Olga M Sinilnikova - Université Claude Bernard Lyon 1
Penny Soucy - Cancer Genomics Centre
Lesley Mcguffog - Centre for Cancer Genetic Epidemiology
Sue Healey - QIMR Berghofer Medical Research Institute
Andrew Lee - Centre for Cancer Genetic Epidemiology
Paolo Peterlongo - IFOM
Siranoush Manoukian - Fondazione IRCCS Istituto Nazionale dei Tumori
Bernard Peissel - Fondazione IRCCS Istituto Nazionale dei Tumori
Daniela Zaffaroni - Fondazione IRCCS Istituto Nazionale dei Tumori
Elisa Cattaneo - Fondazione IRCCS Istituto Nazionale dei Tumori
Monica Barile - European Institute of Oncology
Valeria Pensotti - Genomics
Barbara Pasini - University of Turin
Riccardo Dolcetti - Istituti di Ricovero e Cura a Carattere Scientifico
Giuseppe Giannini - Sapienza University of Rome
Anna Laura Putignano - University of Florence
Liliana Varesco - Alleanza Contro il Cancro
Paolo Radice - Unit of Molecular Bases of Genetic Risk and Genetic Testing
Phuong L Mai
Mark H Greene - National Cancer Institute
Irene L Andrulis - Mount Sinai Hospital
Gord Glendon - Cancer Care Ontario
Hilmi Ozcelik - Lunenfeld-Tanenbaum Research Institute
Mads Thomassen - Odense University Hospital
Anne-Marie Gerdes - Department of Clinical Genetics [Copenhagen]
Torben A Kruse - Odense University Hospital
Uffe Birk Jensen
Dorthe G Crüger - Vejle Sygehus
Maria A Caligo - Azienda Ospedaliera Universitaria Pisana
Yael Laitman - Sheba Medical Center
Roni Milgrom - Sheba Medical Center
Bella Kaufman - Sheba Medical Center
Shani Paluch-Shimon
Eitan Friedman - Sheba Medical Center
Niklas Loman - Lund University
Katja Harbst - Lund University
Annika Lindblom - Department of Clinical Genetics
Brita Arver - Karolinska University Hospital
Hans Ehrencrona - Uppsala University
Beatrice Melin - Umeå University
Katherine L Nathanson - University of Pennsylvania
Susan M Domchek - University of Pennsylvania
Timothy Rebbeck - University of Pennsylvania
Ania Jakubowska
Jan Lubinski - International Hereditary Cancer Center
Jacek Gronwald - International Hereditary Cancer Center
Tomasz Huzarski - International Hereditary Cancer Center
Tomasz Byrski - International Hereditary Cancer Center
Cezary Cybulski - International Hereditary Cancer Center
Bohdan Gorski - International Hereditary Cancer Center
Ana Osorio - Spanish National Cancer Research Centre
Teresa Ramón y Cajal - Department of Medical Oncology
Florentia Fostira - National Centre of Scientific Research "Demokritos"
Raquel Andrés - Hospital Clínico Universitario Lozano Blesa
Javier Benitez - Human Genetics Group
Ute Hamann - DKFZ-ZMBH Alliance
Frans B Hogervorst - Cancer Clinic
Matti A Rookus - The Netherlands Cancer Institute
Maartje J Hooning - Erasmus MC
Marcel R Nelen - Radboud University Nijmegen
Rob B van Der Luijt - University Medical Center Utrecht
Theo a M van Os - Academic Medical Center
Christi J van Asperen
Peter Devilee - Leiden University Medical Center
Hanne E J Meijers-Heijboer
Encarna B Gómez Garcia
Susan Peock - Centre for Cancer Genetic Epidemiology
Margaret Cook - Centre for Cancer Genetic Epidemiology
Debra Frost - Centre for Cancer Genetic Epidemiology
Radka Platte - Centre for Cancer Genetic Epidemiology
Jean Leyland
D Gareth Evans - Manchester Academic Health Science Centre
Fiona Lalloo - Manchester Academic Health Science Centre
Ros Eeles - Oncogenetics Team
Louise Izatt - Guy's and St Thomas' NHS Foundation Trust
Julian Adlard - Yorkshire Regional Genetics Service
Rosemarie Davidson - Woolmanhill Hospital
Diana Eccles - Princess Anne Hospital
Kai-Ren Ong - Birmingham Women's Hospital
Jackie Cook - Sheffield Children's Hospital
Fiona Douglas - Centre for Life
Joan Paterson - Addenbrooke's Hospital
M John Kennedy - St. James's Hospital
Zosia Miedzybrodzka - University of Aberdeen
Andrew Godwin - University of Kansas Medical Center
Dominique Stoppa-Lyonnet - Institut Curie
Bruno Buecher - Service de Génétique Oncologique
Muriel Belotti
Carole Tirapo - génétique
Sylvie Mazoyer - Université Claude Bernard Lyon 1
Laure Barjhoux - Université Claude Bernard Lyon 1
Christine Lasset - Centre Léon Bérard
Dominique Leroux - Centre Hospitalier Universitaire de Grenoble
Laurence Faivre - Centre Hospitalier Universitaire Dijon Bourgogne
Myriam Bronner - Laboratoire de Génétique Médicale
Fabienne Prieur - Centre Hospitalier Universitaire de Saint-Étienne
Catherine Nogues - Hôpital René Huguenin
Etienne Rouleau - Hôpital René Huguenin
Pascal Pujol - Université de Montpellier, Institut de Recherche en Cancérologie de Montpellier - IRCM
Isabelle Coupier - CEA Valduc
Marc Frénay - Centre Antoine Lacassagne
John L Hopper - University of Melbourne
Mary B Daly - Fox Chase Cancer Center
Mary B Terry - Columbia University
Esther M John - Cancer Prevention Institute of California
Saundra S Buys - Huntsman Cancer Institute
Yosuf Yassin - Dana-Farber Cancer Institute
Alexander Miron - Dana-Farber Cancer Institute
David Goldgar - University of Utah
Christian F Singer - Medical University of Vienna
Muy-Kheng Tea - Dept of OB/GYN and Comprehensive Cancer Center
Georg Pfeiler - Medical University of Vienna
Anne Catharina Dressler - Medical University of Vienna
Thomas V O Hansen
Lars Jønson - Center for Genomic Science
Bent Ejlertsen - Copenhagen University Hospital
Rosa Bjork Barkardottir - University Hospital of North Norway
Tomas Kirchhoff - Memorial Sloan Kettering Cancer Center
Kenneth Offit - Memorial Sloan Kettering Cancer Center
Marion Piedmonte - Statistical and Data Center
Gustavo Rodriguez - NorthShore University HealthSystem
Laurie Small - Maine Medical Center
John Boggess - University of North Carolina at Chapel Hill
Stephanie Blank - New York University
Jack Basil - St. Elizabeth Healthcare
Masoud Azodi - Yale University
Amanda Ewart Toland - The Ohio State University
Marco Montagna - Istituto Oncologico Veneto
Silvia Tognazzo - Istituto Oncologico Veneto
Simona Agata - Istituto Oncologico Veneto
Evgeny Imyanitov - Institute of Oncology NN Petrov
Ramunas Janavicius - Vilnius University
Conxi Lazaro - Institut Català d'Oncologia
Ignacio Blanco - Institut Català d'Oncologia
Paul D P Pharoah - University of Cambridge
Lara Sucheston - Roswell Park Comprehensive Cancer Center
Beth y Karlan - Cedars-Sinai Medical Center
Christine S Walsh - Cancer Research Institute
Edith Olah - National Institute of Oncology
Aniko Bozsik - National Institute of Oncology
Soo-Hwang Teo - Cancer Research Initiatives Foundation
Joyce L Seldon - Cancer Genetics
Mary S Beattie - Universidad Católica de Santa Fe
Elizabeth J van Rensburg - University of Pretoria
Michelle D Sluiter - University of Pretoria
Orland Diez - Oncogenetics Laboratory
Rita K Schmutzler - University Hospital Cologne
Barbara Wappenschmidt - University Hospital Cologne
Christoph Engel - Leipzig University
Alfons Meindl - Klinikum rechts der Isar
Ina Ruehl - Ludwig-Maximilians-Universität München
Raymonda Varon-Mateeva - Charité - Universitätsmedizin Berlin
Karin Kast - University Hospital Carl Gustav Carus
Helmut Deissler - Department of Gynaecology and Obstetrics
Dieter Niederacher - Heinrich Heine University Düsseldorf
Norbert Arnold - Kiel University
Dorothea Gadzicki - Medizinische Hochschule Hannover
Ines Schönbuchner - University of Würzburg
Trinidad Caldes - Molecular Oncology Laboratory
Miguel de La Hoya - Hospital Clínico San Carlos
Heli Nevanlinna - Department of Obstetrics and Gynecology
Kristiina Aittomäki - Helsinki University Hospital
Martine Dumont - Cancer Genomics Centre
Jocelyne Chiquette - Centre hospitalier universitaire de Québec
Marc Tischkowitz - McGill University
Xiaoqing Chen - QIMR Berghofer Medical Research Institute
Jonathan Beesley - QIMR Berghofer Medical Research Institute
Amanda B Spurdle - QIMR Berghofer Medical Research Institute
Susan L Neuhausen - City of Hope
Yuan Chun Ding
Zachary Fredericksen - Mayo Clinic in Florida
Xianshu Wang - Mayo Clinic in Arizona
Vernon S Pankratz - Mayo Clinic in Florida
Fergus Couch - Mayo Clinic in Arizona
Jacques Simard - Centre hospitalier universitaire de Québec
Douglas F Easton - Cancer Research U.K. Genetic Epidemiology Unit
Georgia Chenevix-Trench - QIMR Berghofer Medical Research Institute
Non Renseigné
Publication Details: Human Molecular Genetics, Vol.20(16), pp.3304-21
Identifiers: 9937191209311
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-00771696