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Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)

Lookup NU author(s): Dr John Beesley, Dr Anne-Marie Gerdes, Dr Fiona Douglas

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Abstract

BACKGROUND: In this study we aimed to evaluate the role of a SNP in intron I of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers. METHODS: We have genotyped rs744154 in 9408 BRCA1 and 5632 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and assessed its association with breast cancer risk using a retrospective weighted cohort approach. RESULTS: We found no evidence of association with breast cancer risk for BRCA1 (per-allele HR: 0.98, 95% CI: 0.93-1.04, P = 0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P = 0.5) mutation carriers. CONCLUSION: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out. British Journal of Cancer (2009) 101, 2048-2054. doi: 10.1038/sj.bjc.6605416 www.bjcancer.com Published online 17 November 2009 (C) 2009 Cancer Research UK


Publication metadata

Author(s): Osorio A, Milne RL, Pita G, Peterlongo P, Heikkinen T, Simard J, Chenevix-Trench G, Spurdle AB, Beesley J, Chen X, Healey S, Neuhausen SL, Ding YC, Couch FJ, Wang X, Lindor N, Manoukian S, Barile M, Viel A, Tizzoni L, Szabo CI, Foretova L, Zikan M, Claes K, Greene MH, Mai P, Rennert G, Lejbkowicz F, Barnett-Griness O, Andrulis IL, Ozcelik H, Weerasooriya N, Gerdes AM, Thomassen M, Cruger DG, Caligo MA, Friedman E, Kaufman B, Laitman Y, Cohen S, Kontorovich T, Gershoni-Baruch R, Dagan E, Jernstrom H, Askmalm MS, Arver B, Malmer B, Domchek SM, Nathanson KL, Brunet J, Cajal TRY, Yannoukakos D, Hamann U, Hogervorst FBL, Verhoef S, Garcia EBG, Wijnen JT, van den Ouweland A, Easton DF, Peock S, Cook M, Oliver CT, Frost D, Luccarini C, Evans DG, Lalloo F, Eeles R, Pichert G, Cook J, Hodgson S, Morrison PJ, Douglas F, Godwin AK, Sinilnikova OM, Barjhoux L, Stoppa-Lyonnet D, Moncoutier V, Giraud S, Cassini C, Olivier-Faivre L, Revillion F, Peyrat JP, Muller D, Fricker JP, Lynch HT, John EM, Buys S, Daly M, Hopper JL, Terry MB, Miron A, Yassin Y, Goldgar D, Singer CF, Gschwantler-Kaulich D, Pfeiler G, Spiess AC, Hansen TV, Johannsson OT, Kirchhoff T, Offit K, Kosarin K, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J, Schwartz PE, Blank SV, Toland AE, Montagna M, Casella C, Imyanitov EN, Allavena A, Schmutzler RK, Versmold B, Engel C, Meindl A, Ditsch N, Arnold N, Niederacher D, Deissler H, Fiebig B, Varon-Mateeva R, Schaefer D, Froster UG, Caldes T, de la Hoya M, McGuffog L, Antoniou AC, Nevanlinna H, Radice P, Benitez J, KConFab, OCGN, SWE-BRCA, HEBON, EMBRACE, GEMO, Breast Cancer Family Registry, CIMBA

Publication type: Article

Publication status: Published

Journal: British Journal of Cancer

Year: 2009

Volume: 101

Issue: 12

Pages: 2048-2054

ISSN (print): 0007-0920

ISSN (electronic): 1532-1827

Publisher: Nature Publishing Group

URL: .htp://dx.doi.org/10.1038/sj.bjc.6605416

DOI: 10.1038/sj.bjc.6605416


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Funding

Funder referenceFunder name
Canadian Institutes of Health Research
10118Cancer Research UK
CA122340NCI NIH HHS
CA128978NCI NIH HHS
CA74415NCI NIH HHS
C1287/A10118Cancer Research UK
C1287/A8874Cancer Research UK
C5047/A8385Cancer Research UK
C8197/A10123Cancer Research UK
CA 27469NCI NIH HHS
CA 37517NCI NIH HHS
CA116167NCI NIH HHS
N02CP11019NCI NIH HHS
N02-CP-11019-50NCI NIH HHS
N02CP65504NCI NIH HHS
R01 CA128978NCI NIH HHS
NIH0014262027Intramural NIH HHS
RFA-CA-06-503NCI NIH HHS
P50 CA116201NCI NIH HHS
P50CA116201NCI NIH HHS
R01 CA074415NCI NIH HHS
R01 CA116167NCI NIH HHS
R01 CA122340NCI NIH HHS
U01 CA069417NCI NIH HHS
U01 CA116167NCI NIH HHS
U01 CA69398NCI NIH HHS
U01 CA69417NCI NIH HHS
U01 CA69446NCI NIH HHS
U01 CA69631NCI NIH HHS
U10 CA037517NCI NIH HHS
U01 CA069398NCI NIH HHS
U01 CA069446NCI NIH HHS
U01 CA069467NCI NIH HHS
U01 CA069631NCI NIH HHS
U01 CA069638NCI NIH HHS
U01 CA69467NCI NIH HHS
U01 CA69638NCI NIH HHS
U10 CA027469NCI NIH HHS

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