A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

AC Antoniou; X Wang; ZS Fredericksen; L McGuffog; R Tarrell; OM Sinilnikova; S Healey; J Morrison; C Kartsonaki; T Lesnick; M Ghoussaini; D Barrowdale; S Peock; M Cook; C Oliver; D Frost; D Eccles; DG Evans; R Eeles; L Izatt; C Chu; F Douglas; J Paterson; D Stoppa-Lyonnet; C Houdayer; S Mazoyer; S Giraud; C Lasset; A Remenieras; O Caron; A Hardouin; P Berthet; FBL Hogervorst; MA Rookus; A Jager; A Van Den Ouweland; N Hoogerbrugge; RB Van Der Luijt; H Meijers-Heijboer; EB G'mez García; P Devilee; MPG Vreeswijk; J Lubinski; A Jakubowska; J Gronwald; T Huzarski; T Byrski; B G'rski; C Cybulski; AB Spurdle; H Holland; DE Goldgar; EM John; JL Hopper; M Southey; SS Buys; MB Daly; MB Terry; RK Schmutzler; B Wappenschmidt; C Engel; A Meindl; S Preisler-Adams; N Arnold; D Niederacher; C Sutter; SM Domchek; KL Nathanson; T Rebbeck; JL Blum; M Piedmonte; GC Rodriguez; K Wakeley; JF Boggess; J Basil; SV Blank; E Friedman; B Kaufman; Y Laitman; R Milgrom; IL Andrulis; G Glendon; H Ozcelik; T Kirchhoff; J Vijai; MM Gaudet; D Altshuler; C Guiducci; N Loman; K Harbst; J Rantala; H Ehrencrona; AM Gerdes; M Thomassen; L Sunde; P Peterlongo; S Manoukian; B Bonanni; A Viel; P Radice

Journal article

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

AC Antoniou, X Wang, ZS Fredericksen, L McGuffog, R Tarrell, OM Sinilnikova, S Healey, J Morrison, C Kartsonaki, T Lesnick, M Ghoussaini, D Barrowdale, S Peock, M Cook, C Oliver, D Frost, D Eccles, DG Evans, R Eeles, L Izatt Show all

Nature Genetics | NATURE PUBLISHING GROUP | Published : 2010

DOI: 10.1038/ng.669

Abstract

Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 mutations who were diagnosed with invasive breast cancer under age 40 and 1,190 BRCA1 carriers without breast cancer diagnosis over age 35. We took forward 96 SNPs for replication in another 5,986 BRCA1 carriers (2,974 individuals with breast cancer and 3,012 unaffected individuals). Five SNPs on 19p13 were associated with breast cancer risk (P trend = 2.3 × 10 9 to P trend = 3.9 × 10 7), two of which showed independent associations (rs8170, hazard ratio (HR) = 1.26, 95% CI 1.17-1.35; rs2363956 HR = 0.84, 95% CI 0.80-0...

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University of Melbourne Researchers

Melissa Southey Author

Related Projects (1)

NIH AUSTRALIAN BREAST CANCER FAMILY REGISTRY SOUTHEY-HOPPER

DESCRIPTION (provided by applicant): The broad objective of the Breast Cancer Family Registry (Breast CFR) is to establish and maintain a hy..

Grants

Awarded by National Institutes of Health

Funding Acknowledgements

Financial support for this study was provided by the Breast Cancer Research Foundation (BCRF), Susan G. Komen for the Cure and US National Institutes of Health grant CA128978 to F. J. C. and by Cancer Research UK to D. F. E. and A. C. A. A. C. A. is a Cancer Research UK Senior Cancer Research Fellow and D. F. E. is a Cancer Research UK Principal Research Fellow. The authors thank Cancer Genetic Markers of Susceptability (CGEMS) and Wellcome Trust Case Control Consortium (WTCCC) for provision of genotype data from controls. Study specific acknowledgments listed in Supplementary Note.