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Title: 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).
Authors: Osorio A,  Milne RL,  Pita G,  Peterlongo P,  Heikkinen T,  Simard J,  Chenevix-Trench G,  Spurdle AB,  Beesley J,  Chen X,  Healey S,  KConFab,  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,  OCGN,  Gerdes AM,  Thomassen M,  Cruger DG,  Caligo MA,  Friedman E,  Kaufman B,  Laitman Y,  Cohen S,  Kontorovich T,  Gershoni-Baruch R,  Dagan E,  Jernström H,  Askmalm MS,  Arver B,  Malmer B,  SWE-BRCA,  Domchek SM,  Nathanson KL,  Brunet J,  Ramón Y Cajal T,  Yannoukakos D,  Hamann U,  HEBON,  Hogervorst FB,  Verhoef S,  Gómez García EB,  Wijnen JT,  van den Ouweland A,  EMBRACE,  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,  GEMO,  Sinilnikova OM,  Barjhoux L,  Stoppa-Lyonnet D,  Moncoutier V,  Giraud S,  Cassini C,  Olivier-Faivre L,  Révillion 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,  Breast Cancer Family Registry,  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,  Benítez J,  CMBA
Journal: Br J Cancer
Date: 2009 Dec 15
Branches: CGB, MEB
PubMed ID: 19920816
PMC ID: PMC2795432
Abstract: BACKGROUND: In this study we aimed to evaluate the role of a SNP in intron 1 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.