Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.

David G Cox; Jacques Simard; Daniel Sinnett; Yosr Hamdi; Penny Soucy; Manon Ouimet; Laure Barjhoux; Carole Verny-Pierre; Lesley Mcguffog; Sue Healey; Csilla Szabo; Mark H Greene; Phuong L Mai; Irene L Andrulis; Mads Thomassen; Anne-Marie Gerdes; Maria A Caligo; Eitan Friedman; Yael Laitman; Bella Kaufman; Shani S Paluch; Åke Borg; Per Karlsson; Marie Stenmark Askmalm; Gisela Barbany Bustinza; Katherine L Nathanson; Susan M Domchek; Timothy R Rebbeck; Javier Benítez; Ute Hamann; Matti A Rookus; Ans M W van den Ouweland; Margreet G E M Ausems; Cora M Aalfs; Christi J van Asperen; Peter Devilee; Hans J J P Gille; Susan Peock; Debra Frost; D Gareth Evans; Ros Eeles; Louise Izatt; Julian Adlard; Joan Paterson; Jacqueline Eason; Andrew K Godwin; Marie-Alice Remon; Virginie Moncoutier; Marion Gauthier-Villars; Christine Lasset; Sophie Giraud; Agnès Hardouin; Pascaline Berthet; Hagay Sobol; François Eisinger; Brigitte Bressac de Paillerets; Olivier Caron; Capucine Delnatte; David Goldgar; Alex Miron; Hilmi Ozcelik; Saundra Buys; Melissa C Southey; Mary Beth Terry; Christian F Singer; Anne-Catharina Dressler; Muy-Kheng Tea; Thomas V O Hansen; Oskar Johannsson; Marion Piedmonte; Gustavo C Rodriguez; Jack B Basil; Stephanie Blank; Amanda E Toland; Marco Montagna; Claudine Isaacs; Ignacio Blanco; Simon A Gayther; Kirsten B Moysich; Rita K Schmutzler; Barbara Wappenschmidt; Christoph Engel; Alfons Meindl; Nina Ditsch; Norbert Arnold; Dieter Niederacher; Christian Sutter; Dorothea Gadzicki; Britta Fiebig; Trinidad Caldes; Rachel Laframboise; Heli Nevanlinna; Xiaoqing Chen; Jonathan Beesley; Amanda B Spurdle; Susan L Neuhausen; Yuan C Ding; Fergus J Couch; Xianshu Wang; Paolo Peterlongo; Siranoush Manoukian; Loris Bernard; Paolo Radice; Douglas F Easton; Georgia Chenevix-Trench; Antonis C Antoniou; Dominique Stoppa-Lyonnet; Sylvie Mazoyer; Olga M Sinilnikova; Non Renseigné

doi:10.1093/hmg/ddr388

Journal Articles Human Molecular Genetics Year : 2011

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.

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David G Cox

Function : Author

Centre de Recherche en Cancérologie de Lyon

Jacques Simard

Function : Author
PersonId : 757778
ORCID : 0000-0001-6906-3390

Cancer Genomics Laboratory

Daniel Sinnett

Function : Author

Centre de recherche du CHU Sainte-Justine / Research Center of the Sainte-Justine University Hospital [Montreal, Canada]

Department of Pediatrics

Yosr Hamdi

Function : Author
PersonId : 767950
ORCID : 0000-0002-2815-1834

Penny Soucy

Function : Author

Cancer Genomics Laboratory

Manon Ouimet

Function : Author

Laure Barjhoux

Function : Author

Centre de Recherche en Cancérologie de Lyon

Carole Verny-Pierre

Function : Author

Centre de Recherche en Cancérologie de Lyon

Lesley Mcguffog

Function : Author

Centre for Cancer Genetic Epidemiology

Sue Healey

Function : Author

Queensland Institute of Medical Research

Csilla Szabo

Function : Author

University of Delaware [Newark]

Mark H Greene

Function : Author

Clinical Genetics Branch, Division of Cancer Epidemiology & Genetics

Phuong L Mai

Function : Author

Irene L Andrulis

Function : Author

Mads Thomassen

Function : Author

Department of Clinical Genetics

Anne-Marie Gerdes

Function : Author

Department of Clinical Genetics [Copenhagen]

Maria A Caligo

Function : Author

Eitan Friedman

Function : Author

Sackler Faculty of Medicine

The Susanne Levy Gertner Oncogenetics Unit

Yael Laitman

Function : Author

The Susanne Levy Gertner Oncogenetics Unit

Bella Kaufman

Function : Author

The Susanne Levy Gertner Oncogenetics Unit

Shani S Paluch

Function : Author

Åke Borg

Function : Author

Department of Oncology, Clinical Sciences

Per Karlsson

Function : Author

Department of Oncology

Marie Stenmark Askmalm

Function : Author

Gisela Barbany Bustinza

Function : Author

Katherine L Nathanson

Function : Author

Depts of Medicine and Biostatistics and Epidemology

Susan M Domchek

Function : Author

Timothy R Rebbeck

Function : Author

Javier Benítez

Function : Author

Human Genetics Group

Biomedical Research Centre Network for Rare Diseases

Ute Hamann

Function : Author

Molecular Genetics of Breast Cancer

Matti A Rookus

Function : Author

Ans M W van den Ouweland

Function : Author

Margreet G E M Ausems

Function : Author

Cora M Aalfs

Function : Author

Christi J van Asperen

Function : Author

Peter Devilee

Function : Author
PersonId : 763377
ORCID : 0000-0002-8023-2009
IdRef : 074428608

Department of Genetic Epidemiology

Hans J J P Gille

Function : Author

Susan Peock

Function : Author

Centre for Cancer Genetic Epidemiology

Debra Frost

Function : Author

Centre for Cancer Genetic Epidemiology

D Gareth Evans

Function : Author

Genetic Medicine

Ros Eeles

Function : Author

Oncogenetics Team

Louise Izatt

Function : Author

Clinical Genetics

Julian Adlard

Function : Author

Yorkshire Regional Genetics Service

Joan Paterson

Function : Author

Department of Clinical Genetics

Jacqueline Eason

Function : Author

Nottingham Clinical Genetics Service

Andrew K Godwin

Function : Author

Marie-Alice Remon

Function : Author

génétique

Virginie Moncoutier

Function : Author

Marion Gauthier-Villars

Function : Author

Service de Génétique Oncologique

Christine Lasset

Function : Author

Biostatistiques santé [LBBE]

Equipe de prévention et épidémiologie génétique

Sophie Giraud

Function : Author
PersonId : 1359982
ORCID : 0000-0003-1243-3084

Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents

Agnès Hardouin

Function : Author

Centre Régional de Lutte contre le Cancer François Baclesse [Caen]

Pascaline Berthet

Function : Author

Consultation d'Oncogénétique

Hagay Sobol

Function : Author

Hôpital Sainte-Marguerite [CHU - APHM]

Service d'Oncologie Génétique, de Prévention et Dépistage

François Eisinger

Function : Author

Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale

Brigitte Bressac de Paillerets

Function : Author

Olivier Caron

Function : Author

Génétique oncologique

Capucine Delnatte

Function : Author

Centre René Gauducheau

David Goldgar

Function : Author

Department of Dermatology

Alex Miron

Function : Author

Hilmi Ozcelik

Function : Author

Departments of Molecular Genetics and Laboratory Medicine and Pathobiology

Samuel Lunenfeld Research Institute

Saundra Buys

Function : Author

Department of Internal Medicine

Melissa C Southey

Function : Author

Mary Beth Terry

Function : Author

Christian F Singer

Function : Author

Anne-Catharina Dressler

Function : Author

Division of Special Gynecology

Muy-Kheng Tea

Function : Author

Dept of OB/GYN and Comprehensive Cancer Center

Thomas V O Hansen

Function : Author

Oskar Johannsson

Function : Author

Department of Oncology

Faculty of Medicine

Marion Piedmonte

Function : Author

Statistical and Data Center

Gustavo C Rodriguez

Function : Author

Jack B Basil

Function : Author

Stephanie Blank

Function : Author

Amanda E Toland

Function : Author

Marco Montagna

Function : Author

Immunology and Molecular Oncology Unit

Claudine Isaacs

Function : Author

Lombardi Comprehensive Cancer Center

Ignacio Blanco

Function : Author

Genetic Counselling Unit

Simon A Gayther

Function : Author

Kirsten B Moysich

Function : Author

Rita K Schmutzler

Function : Author

Barbara Wappenschmidt

Function : Author

Department of Gynaecology and Obstetrics

Christoph Engel

Function : Author

Institute for Medical Informatics, Statistics and Epidemiology [Leipzig]

Alfons Meindl

Function : Author

Department of Gynaecology and Obstetrics

Nina Ditsch

Function : Author

Department of Gynaecology and Obstetrics

Norbert Arnold

Function : Author

Department of Gynaecology and Obstetrics

Dieter Niederacher

Function : Author

Department of Gynaecology and Obstetrics

Christian Sutter

Function : Author

Institute of Human Genetics

Dorothea Gadzicki

Function : Author

Institute of Cell and Molecular Pathology

Britta Fiebig

Function : Author

Institute of Human Genetics

Trinidad Caldes

Function : Author

Molecular Oncology Laboratory

Rachel Laframboise

Function : Author

Heli Nevanlinna

Function : Author
PersonId : 762552
ORCID : 0000-0002-0916-2976

Department of Obstetrics and Gynecology

Xiaoqing Chen

Function : Author

Queensland Institute of Medical Research

Jonathan Beesley

Function : Author

Queensland Institute of Medical Research

Amanda B Spurdle

Function : Author

Susan L Neuhausen

Function : Author

Yuan C Ding

Function : Author

Fergus J Couch

Function : Author

Xianshu Wang

Function : Author

Department of Laboratory Medicine and Pathology

Paolo Peterlongo

Function : Author
PersonId : 762723
ORCID : 0000-0001-6951-6855

Unit of Molecular Bases of Genetic Risk and Genetic Testing

Siranoush Manoukian

Function : Author

Unit of Medical Genetics

Loris Bernard

Function : Author

Department of Experimental Oncology

Paolo Radice

Function : Author
PersonId : 763238
ORCID : 0000-0001-6298-4111

Unit of Molecular Bases of Genetic Risk and Genetic Testing

Douglas F Easton

Function : Author

Cancer Research U.K. Genetic Epidemiology Unit

Genetic Epidemiology Unit, Department of Public Health and Primary Care

Georgia Chenevix-Trench

Function : Author

Queensland Institute of Medical Research

Antonis C Antoniou

Function : Author

Dominique Stoppa-Lyonnet

Function : Author
PersonId : 770393
ORCID : 0000-0002-5438-8309
IdRef : 050298550

Service de Génétique Oncologique

Unité de génétique et biologie des cancers

Sylvie Mazoyer

Function : Author
PersonId : 752568
IdHAL : sylvie-mazoyer
ORCID : 0000-0002-2135-0160
IdRef : 075600390

Centre de Recherche en Cancérologie de Lyon

Olga M Sinilnikova

Function : Correspondent author
PersonId : 922678

Connectez-vous pour contacter l'auteur

Centre de Recherche en Cancérologie de Lyon

Non Renseigné

Function : Author

Abstract

Mutations in the BRCA1 gene substantially increase a woman's lifetime risk of breast cancer. However, there is great variation in this increase in risk with several genetic and non-genetic modifiers identified. The BRCA1 protein plays a central role in DNA repair, a mechanism that is particularly instrumental in safeguarding cells against tumorigenesis. We hypothesized that polymorphisms that alter the expression and/or function of BRCA1 carried on the wild-type (non-mutated) copy of the BRCA1 gene would modify the risk of breast cancer in carriers of BRCA1 mutations. A total of 9874 BRCA1 mutation carriers were available in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) for haplotype analyses of BRCA1. Women carrying the rare allele of single nucleotide polymorphism rs16942 on the wild-type copy of BRCA1 were at decreased risk of breast cancer (hazard ratio 0.86, 95% confidence interval 0.77-0.95, P = 0.003). Promoter in vitro assays of the major BRCA1 haplotypes showed that common polymorphisms in the regulatory region alter its activity and that this effect may be attributed to the differential binding affinity of nuclear proteins. In conclusion, variants on the wild-type copy of BRCA1 modify risk of breast cancer among carriers of BRCA1 mutations, possibly by altering the efficiency of BRCA1 transcription.

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Cancer

Marie-Pierre Scanella : Connect in order to contact the contributor

https://hal.science/hal-00790211

Submitted on : Tuesday, February 19, 2013-4:17:32 PM

Last modification on : Friday, November 15, 2024-9:26:12 AM

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hal-00790211 , version 1 (19-02-2013)

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HAL Id : hal-00790211 , version 1
DOI : 10.1093/hmg/ddr388
PUBMED : 21890493
PUBMEDCENTRAL : PMC3733139

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David G Cox, Jacques Simard, Daniel Sinnett, Yosr Hamdi, Penny Soucy, et al.. Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.. Human Molecular Genetics, 2011, 20 (23), pp.4732-47. ⟨10.1093/hmg/ddr388⟩. ⟨hal-00790211⟩

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Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.

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