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)

A Osorio; RL Milne; G Pita; P Peterlongo; T Heikkinen; J Simard; G Chenevix-Trench; AB Spurdle; J Beesley; X Chen; S Healey; SL Neuhausen; YC Ding; FJ Couch; X Wang; N Lindor; S Manoukian; M Barile; A Viel; L Tizzoni; CI Szabo; L Foretova; M Zikan; K Claes; MH Greene; P Mai; G Rennert; F Lejbkowicz; O Barnett-Griness; IL Andrulis; H Ozcelik; N Weerasooriya; AM Gerdes; M Thomassen; DG Cruger; MA Caligo; E Friedman; B Kaufman; Y Laitman; S Cohen; T Kontorovich; R Gershoni-Baruch; E Dagan; H Jernström; MS Askmalm; B Arver; B Malmer; SM Domchek; KL Nathanson; J Brunet; T Ramón Y Cajal; D Yannoukakos; U Hamann; FBL Hogervorst; S Verhoef; EBG Garcíla; JT Wijnen; A Van Den Ouweland; DF Easton; S Peock; M Cook; CT Oliver; D Frost; C Luccarini; DG Evans; F Lalloo; R Eeles; G Pichert; J Cook; S Hodgson; PJ Morrison; F Douglas; AK Godwin; OM Sinilnikova; L Barjhoux; D Stoppa-Lyonnet; V Moncoutier; S Giraud; C Cassini; L Olivier-Faivre; F Révillion; JP Peyrat; D Muller; JP Fricker; HT Lynch; EM John; S Buys; M Daly; JL Hopper; MB Terry; A Miron; Y Yassin; D Goldgar; CF Singer; D Gschwantler-Kaulich; G Pfeiler; AC Spiess; TVO Hansen; OT Johannsson; T Kirchhoff

Journal article

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)

A Osorio, RL Milne, G Pita, P Peterlongo, T Heikkinen, J Simard, G Chenevix-Trench, AB Spurdle, J Beesley, X Chen, S Healey, SL Neuhausen, YC Ding, FJ Couch, X Wang, N Lindor, S Manoukian, M Barile, A Viel, L Tizzoni Show all

British Journal of Cancer | SPRINGERNATURE | Published : 2009

DOI: 10.1038/sj.bjc.6605416

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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, P0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.8..

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