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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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  • Antonis C Antoniou
  • Christiana Kartsonaki
  • Olga M Sinilnikova
  • Penny Soucy
  • Lesley McGuffog
  • Sue Healey
  • Andrew Roger 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 Gylling 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
  • Thomas v O Hansen
  • Lars Jønson
  • Bent Ejlertsen
  • SWE-BRCA
Vis graf over relationer
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.
OriginalsprogEngelsk
TidsskriftHuman Molecular Genetics
Vol/bind20
Udgave nummer16
Sider (fra-til)3304-21
Antal sider18
ISSN0964-6906
DOI
StatusUdgivet - 2011

ID: 33199358