Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers

Amanda B. Spurdle; Louise Marquart; Lesley McGuffog; Sue Healey; Olga Sinilnikova; Fei Wan; Xiaoqing Chen; Jonathan Beesley; Christian F. Singer; Anne-Catharine Dressler; Daphne Gschwantler-Kaulich; Joanne L. Blum; Nadine Tung; Jeff Weitzel; Henry Lynch; Judy Garber; Douglas F. Easton; Susan Peock; Margaret Cook; Clare T. Oliver; Debra Frost; Don Conroy; D. Gareth Evans; Fiona Lalloo; Ros Eeles; Louise Izatt; Rosemarie Davidson; Carol Chu; Diana Eccles; Christina G. Selkirk; Mary Daly; Claudine Isaacs; Dominique Stoppa-Lyonnet; Bruno Buecher; Muriel Belotti; Sylvie Mazoyer; Laure Barjhoux; Carole Verny-Pierre; Christine Lasset; Helene Dreyfus; Pascal Pujol; Marie-Agnes Collonge-Rame; Matti A. Rookus; Senno Verhoef; Mieke Kriege; Nicoline Hoogerbrugge; Margreet G. E. M. Ausems; Theo A. van Os; Juul Wijnen; Peter Devilee; Hanne E. J. Meijers-Heijboer; Marinus J. Blok; Tuomas Heikkinen; Heli Nevanlinna; Anna Jakubowska; Jan Lubinski; Tomasz Huzarski; Tomasz Byrski; Francine Durocher; Fergus J. Couch; Noralane M. Lindor; Xianshu Wang; Mads Thomassen; Susan Domchek; Kate Nathanson; M. A. Caligo; Helena Jernstrom; Annelie Liljegren; Hans Ehrencrona; Per Karlsson; Patricia A. Ganz; Olufunmilayo I. Olopade; Gail Tomlinson; Susan Neuhausen; Antonis C. Antoniou; Georgia Chenevix-Trench; Timothy R. Rebbeck; GEMO Study Collaborators

doi:10.1158/1055-9965.EPI-10-0909

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Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers

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Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers

Amanda B. Spurdle, Louise Marquart, Lesley McGuffog, Sue Healey, Olga Sinilnikova, Fei Wan, Xiaoqing Chen, Jonathan Beesley, Christian F. Singer, Anne-Catharine Dressler, …

Cancer epidemiology, biomarkers & prevention, Vol.20(5), pp.1032-1038

2011

DOI: https://doi.org/10.1158/1055-9965.EPI-10-0909

PMID: 21393566

Résumé

Life Sciences & Biomedicine

Oncology

Public, Environmental & Occupational Health

Science & Technology

Background: Inherited BRCA1 and BRCA2 (BRCA1/2) mutations confer elevated breast cancer risk. Knowledge of factors that can improve breast cancer risk assessment in BRCA1/2 mutation carriers may improve personalized cancer prevention strategies. Methods: A cohort of 5,546 BRCA1 and 2,865 BRCA2 mutation carriers was used to evaluate risk of breast cancer associated with BARD1 Cys557Ser. In a second nonindependent cohort of 1,537 of BRCA1 and 839 BRCA2 mutation carriers, BARD1 haplotypes were also evaluated. Results: The BARD1 Cys557Ser variant was not significantly associated with risk of breast cancer from single SNP analysis, with a pooled effect estimate of 0.90 (95% CI: 0.71-1.15) in BRCA1 carriers and 0.87 (95% CI: 0.59-1.29) in BRCA2 carriers. Further analysis of haplotypes at BARD1 also revealed no evidence that additional common genetic variation not captured by Cys557Ser was associated with breast cancer risk. Conclusion: Evidence to date does not support a role for BARD1 variation, including the Cy557Ser variant, as a modifier of risk in BRCA1/2 mutation carriers. Impact: Interactors of BRCA1/2 have been implicated as modifiers of BRCA1/2-associated cancer risk. Our finding that BARD1 does not contribute to this risk modification may focus research on other genes that do modify BRCA1/2-associated cancer risk. Cancer Epidemiol Biomarkers Prev; 20(5); 1032-38. (C) 2011 AACR.

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Titre: Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers
Créateurs - sans rôle: Amanda B. Spurdle - Queensland Inst Med Res, Brisbane, Qld 4006, Australia
Louise Marquart - Queensland Inst Med Res, Brisbane, Qld 4006, Australia
Lesley McGuffog - Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England
Sue Healey - Queensland Inst Med Res, Brisbane, Qld 4006, Australia
Olga Sinilnikova - IARC, Lyon, France
Fei Wan
Xiaoqing Chen - Queensland Inst Med Res, Brisbane, Qld 4006, Australia
Jonathan Beesley - Queensland Inst Med Res, Brisbane, Qld 4006, Australia
Christian F. Singer - University of Vienna
Anne-Catharine Dressler - Med Univ Vienna, Vienna, Austria
Daphne Gschwantler-Kaulich - Med Univ Vienna, Vienna, Austria
Joanne L. Blum - Baylor Sammons Canc Ctr, Hereditary Canc Risk Program, Dallas, TX USA
Nadine Tung - College Station Medical Center
Jeff Weitzel - City Hope Natl Med Ctr, Duarte, CA USA
Henry Lynch - Creighton Univ, Omaha, NE 68178 USA
Judy Garber - Dana Farber Canc Inst, Boston, MA 02115 USA
Douglas F. Easton - Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England
Susan Peock - Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England
Margaret Cook - Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England
Clare T. Oliver - Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England
Debra Frost - Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England
Don Conroy - Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England
D. Gareth Evans - Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Manchester, Lancs, England
Fiona Lalloo - Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Manchester, Lancs, England
Ros Eeles - Inst Canc Res, Oncogenet Team, London SW3 6JB, England
Louise Izatt - Guys & St Thomas NHS Fdn Trust, London, England
Rosemarie Davidson - Yorkhill Hosp, Ferguson Smith Ctr Clin Genet, Glasgow, Lanark, Scotland
Carol Chu - Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England
Diana Eccles - Wessex Archaeology
Christina G. Selkirk - Northshore Univ Hlth Syst, Evanston, IL USA
Mary Daly - Fox Chase Canc Ctr, Philadelphia, PA 19111 USA
Claudine Isaacs - Georgetown University
Dominique Stoppa-Lyonnet - Univ Paris 05, INSERM, Inst Curie, Serv Genet Oncol,U509, Paris, France
Bruno Buecher - Univ Paris 05, INSERM, Inst Curie, Serv Genet Oncol,U509, Paris, France
Muriel Belotti - Univ Paris 05, INSERM, Inst Curie, Serv Genet Oncol,U509, Paris, France
Sylvie Mazoyer - Univ Lyon, CNRS, Ctr Leon Berard, Equipe Labellisee,LIGUE 2008,UMR5201, Lyon, France
Laure Barjhoux - Ctr Hosp Univ Lyon, Ctr Leon Berard, Unite Mixte Genet Constitut Canc Frequents, Lyon, France
Carole Verny-Pierre - Ctr Hosp Univ Lyon, Ctr Leon Berard, Unite Mixte Genet Constitut Canc Frequents, Lyon, France
Christine Lasset - Univ Lyon 1, CNRS, UMR5558, F-69365 Lyon, France
Helene Dreyfus - CHU Grenoble, Dept Genet, F-38043 Grenoble, France
Pascal Pujol - Ctr Hosp Univ Arnaud de Villeneuve, Unite Oncogenet, Montpellier, France
Marie-Agnes Collonge-Rame - Erasmus MC, Rotterdam, Netherlands
Matti A. Rookus - Netherlands Canc Inst, Amsterdam, Netherlands
Senno Verhoef - Netherlands Canc Inst, Amsterdam, Netherlands
Mieke Kriege - Erasmus MC
Nicoline Hoogerbrugge - Radboud University Nijmegen
Margreet G. E. M. Ausems - Univ Med Ctr Utrecht, Utrecht, Netherlands
Theo A. van Os - Amsterdam Med Ctr, Leiden, Netherlands
Juul Wijnen - Leiden University
Peter Devilee - Leiden University
Hanne E. J. Meijers-Heijboer - Vrije Univ Amsterdam Med Ctr, Amsterdam, Netherlands
Marinus J. Blok - Univ Hosp Maastricht, Maastricht, Netherlands
Tuomas Heikkinen - Univ Helsinki, Cent Hosp, Dept Obstet & Gynecol, FIN-00290 Helsinki, Finland
Heli Nevanlinna - Univ Helsinki, Cent Hosp, Dept Obstet & Gynecol, FIN-00290 Helsinki, Finland
Anna Jakubowska - Pomeranian Med Univ, Int Hereditary Canc Ctr, Dept Genet & Pathol, Szczecin, Poland
Jan Lubinski - Pomeranian Med Univ, Int Hereditary Canc Ctr, Dept Genet & Pathol, Szczecin, Poland
Tomasz Huzarski - Pomeranian Med Univ, Int Hereditary Canc Ctr, Dept Genet & Pathol, Szczecin, Poland
Tomasz Byrski - Pomeranian Med Univ, Int Hereditary Canc Ctr, Dept Genet & Pathol, Szczecin, Poland
Francine Durocher - Ctr Hosp Univ Quebec, Quebec City, PQ, Canada
Fergus J. Couch - Mayo Clin, Rochester, MN USA
Noralane M. Lindor - Mayo Clin, Rochester, MN USA
Xianshu Wang - Mayo Clin, Rochester, MN USA
Mads Thomassen - Odense Univ Hosp, Dept Clin Genet, Odense, Denmark
Susan Domchek
Kate Nathanson
M. A. Caligo - Univ Hosp Pisa, Pisa, Italy
Helena Jernstrom - Univ Lund Hosp, S-22185 Lund, Sweden
Annelie Liljegren - Karolinska Institutet
Hans Ehrencrona - Uppsala University
Per Karlsson - Sahlgrens Univ Hosp, Gothenburg, Sweden
Patricia A. Ganz - Univ Calif Los Angeles, Sch Med, Los Angeles, CA USA
Olufunmilayo I. Olopade - University of Chicago
Gail Tomlinson - Univ Texas SW Med Ctr Dallas, Dallas, TX 75390 USA
Susan Neuhausen - Dana Farber Canc Inst, Boston, MA 02115 USA
Antonis C. Antoniou - Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England
Georgia Chenevix-Trench - Queensland Inst Med Res, Brisbane, Qld 4006, Australia
Timothy R. Rebbeck - Univ Penn, Sch Med, Dept Biostat & Epidemiol, Abramson Canc Ctr, 217 Blockley Hall,423 Guardian Dr, Philadelphia, PA 19104 USA
GEMO Study Collaborators
Détails de publication: Cancer epidemiology, biomarkers & prevention, Vol.20(5), pp.1032-1038
Éditeur: Amer Assoc Cancer Research
Nombre de pages: 7
Note de subvention: MUV Comprensive Cancer Center 132473 / Academy of Finland; Research Council of Finland Helsinki University Central Hospital Austrian Society for Endocrinological Oncology C1287/A10118; C1287/A8874; C8197/A10123; C5047/A8385 / Cancer Research, UK; Cancer Research UK Canadian Breast Cancer Research Alliance (CBCRA) Komen Foundation for the cure; Susan G. Komen Breast Cancer Foundation Fonds de la Recherche en Sante du Quebec (FRSQ)/Reseau de Medecine Genetique Appliquee (RMGA); Fonds de recherche du Quebec (FRQ); Fonds de recherche du Quebec - Sante (FRQS) Fonds de la Recherche en Sante du Quebec (FRSQ); Fonds de recherche du Quebec (FRQ); Fonds de recherche du Quebec - Sante (FRQS) 145684; 288704; 454508 / NHMRC; National Health & Medical Research Council (NHMRC) of Australia
Identifiants: 99158932209311
Unité académique: Maladies Infectieuses et Vecteurs : Ecologie, Génétique, Evolution et Contrôle - MIVEGEC
Langue: English
Type de ressource: Journal article