The University of Southampton
University of Southampton Institutional Repository

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

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
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 (r2 = 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.
3304-3321
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Loman, N.
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Goldgar, D.
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Pfeiler, G.
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Small, L.
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Boggess, J.
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Blank, S.
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Basil, J.
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Azodi, M.
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Montagna, M.
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Tognazzo, S.
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Agata, S.
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Imyanitov, E.
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Lazaro, C.
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Blanco, I.
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Sucheston, L.
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de la Hoya, M.
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Easton, D.F.
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Chenevix-Trench, G.
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Antoniou, A.C., Kartsonaki, C. and Sinilnikova, O.M. et al. (2011) Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Human Molecular Genetics, 20 (16), 3304-3321. (doi:10.1093/hmg/ddr226).

Record type: Article

Abstract

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 (r2 = 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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e-pub ahead of print date: 18 March 2011
Published date: 15 August 2011
Organisations: Cancer Sciences

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Local EPrints ID: 352468
URI: https://eprints.soton.ac.uk/id/eprint/352468
PURE UUID: 16f2f1ca-7cf8-431b-96b9-7ae008fbea4c

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Date deposited: 14 May 2013 13:00
Last modified: 18 Jul 2017 04:13

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Contributors

Author: A.C. Antoniou
Author: C. Kartsonaki
Author: O.M. Sinilnikova
Author: P. Soucy
Author: L. McGuffog
Author: S. Healey
Author: A. Lee
Author: P. Peterlongo
Author: S. Manoukian
Author: B. Peissel
Author: D. Zaffaroni
Author: E. Cattaneo
Author: M. Barile
Author: V. Pensotti
Author: B. Pasini
Author: R. Dolcetti
Author: G. Giannini
Author: A. Laura Putignano
Author: L. Varesco
Author: P. Radice
Author: P.L. Mai
Author: M.H. Greene
Author: I.L. Andrulis
Author: G. Glendon
Author: H. Ozcelik
Author: M. Thomassen
Author: A.-M. Gerdes
Author: T.A. Kruse
Author: U. Birk Jensen
Author: D.G. Cruger
Author: M.A. Caligo
Author: Y. Laitman
Author: R. Milgrom
Author: B. Kaufman
Author: S. Paluch-Shimon
Author: E. Friedman
Author: N. Loman
Author: K. Harbst
Author: A. Lindblom
Author: B. Arver
Author: H. Ehrencrona
Author: B. Melin
Author: K.L. Nathanson
Author: S.M. Domchek
Author: T. Rebbeck
Author: A. Jakubowska
Author: J. Lubinski
Author: J. Gronwald
Author: T. Huzarski
Author: T. Byrski
Author: C. Cybulski
Author: B. Gorski
Author: A. Osorio
Author: T. Ramon y Cajal
Author: F. Fostira
Author: R. Andres
Author: J. Benitez
Author: U. Hamann
Author: F.B. Hogervorst
Author: M.A. Rookus
Author: M.J. Hooning
Author: M.R. Nelen
Author: R.B. van der Luijt
Author: T.A.M. van Os
Author: C.J. van Asperen
Author: P. Devilee
Author: H.E.J. Meijers-Heijboer
Author: E.B. Gomez Garcia
Author: S. Peock
Author: M. Cook
Author: D. Frost
Author: R. Platte
Author: J. Leyland
Author: D. Gareth Evans
Author: F. Lalloo
Author: R. Eeles
Author: L. Izatt
Author: J. Adlard
Author: R. Davidson
Author: D. Eccles
Author: K.-r. Ong
Author: J. Cook
Author: F. Douglas
Author: J. Paterson
Author: M. John Kennedy
Author: Z. Miedzybrodzka
Author: A. Godwin
Author: D. Stoppa-Lyonnet
Author: B. Buecher
Author: M. Belotti
Author: C. Tirapo
Author: S. Mazoyer
Author: L. Barjhoux
Author: C. Lasset
Author: D. Leroux
Author: L. Faivre
Author: M. Bronner
Author: F. Prieur
Author: C. Nogues
Author: E. Rouleau
Author: P. Pujol
Author: I. Coupier
Author: M. Frenay
Author: J.L. Hopper
Author: M.B. Daly
Author: M.B. Terry
Author: E.M. John
Author: S.S. Buys
Author: Y. Yassin
Author: A. Miron
Author: D. Goldgar
Author: C.F. Singer
Author: M.-K. Tea
Author: G. Pfeiler
Author: A. Catharina Dressler
Author: T.v.O. Hansen
Author: L. Jonson
Author: B. Ejlertsen
Author: R. Bjork Barkardottir
Author: T. Kirchhoff
Author: K. Offit
Author: M. Piedmonte
Author: G. Rodriguez
Author: L. Small
Author: J. Boggess
Author: S. Blank
Author: J. Basil
Author: M. Azodi
Author: A. Ewart Toland
Author: M. Montagna
Author: S. Tognazzo
Author: S. Agata
Author: E. Imyanitov
Author: R. Janavicius
Author: C. Lazaro
Author: I. Blanco
Author: P.D.P. Pharoah
Author: L. Sucheston
Author: B.Y. Karlan
Author: C.S. Walsh
Author: E. Olah
Author: A. Bozsik
Author: S.-H. Teo
Author: J.L. Seldon
Author: M.S. Beattie
Author: E.J. van Rensburg
Author: M.D. Sluiter
Author: O. Diez
Author: R.K. Schmutzler
Author: B. Wappenschmidt
Author: C. Engel
Author: A. Meindl
Author: I. Ruehl
Author: R. Varon-Mateeva
Author: K. Kast
Author: H. Deissler
Author: D. Niederacher
Author: N. Arnold
Author: D. Gadzicki
Author: I. Schonbuchner
Author: T. Caldes
Author: M. de la Hoya
Author: H. Nevanlinna
Author: K. Aittomaki
Author: M. Dumont
Author: J. Chiquette
Author: M. Tischkowitz
Author: X. Chen
Author: J. Beesley
Author: A.B. Spurdle
Author: S.L. Neuhausen
Author: Y. Chun Ding
Author: Z. Fredericksen
Author: X. Wang
Author: V.S. Pankratz
Author: F. Couch
Author: J. Simard
Author: D.F. Easton
Author: G. Chenevix-Trench

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