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)

Summary, in English

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. Published online 17 November 2009 (C) 2009 Cancer Research UK

• Author: A. Osorio; R. L. Milne; G. Pita; P. Peterlongo; T. Heikkinen; J. Simard; G. Chenevix-Trench; A. B. Spurdle; J. Beesley; X. Chen; S. Healey; S. L. Neuhausen; Y. C. Ding; F. J. Couch; X. Wang; N. Lindor; S. Manoukian; M. Barile; A. Viel; L. Tizzoni; C. I. Szabo; L. Foretova; M. Zikan; K. Claes; M. H. Greene; P. Mai; G. Rennert; F. Lejbkowicz; O. Barnett-Griness; I. L. Andrulis; H. Ozcelik; N. Weerasooriya; A-M Gerdes; M. Thomassen; D. G. Cruger; M. A. Caligo; E. Friedman; B. Kaufman; Y. Laitman; S. Cohen; T. Kontorovich; R. Gershoni-Baruch; E. Dagan; Helena Jernström; M. S. Askmalm; B. Arver; B. Malmer; S. M. Domchek; K. L. Nathanson; J. Brunet; T. Ramon y Cajal; D. Yannoukakos; U. Hamann; F. B. L. Hogervorst; S. Verhoef; E. B. Gomez Garcia; J. T. Wijnen; A. van den Ouweland; D. F. Easton; S. Peock; M. Cook; C. T. Oliver; D. Frost; C. Luccarini; D. G. Evans; F. Lalloo; R. Eeles; G. Pichert; J. Cook; S. Hodgson; P. J. Morrison; F. Douglas; A. K. Godwin; O. M. Sinilnikova; L. Barjhoux; D. Stoppa-Lyonnet; V. Moncoutier; S. Giraud; C. Cassini; L. Olivier-Faivre; F. Revillion; J-P Peyrat; D. Muller; J-P Fricker; H. T. Lynch; E. M. John; S. Buys; M. Daly; J. L. Hopper; M. B. Terry; A. Miron; Y. Yassin; D. Goldgar; C. F. Singer; D. Gschwantler-Kaulich; G. Pfeiler; A-C Spiess; Thomas v. O. Hansen; O. T. Johannsson; T. Kirchhoff; K. Offit; K. Kosarin; M. Piedmonte; G. C. Rodriguez; K. Wakeley; J. F. Boggess; J. Basil; P. E. Schwartz; S. V. Blank; A. E. Toland; M. Montagna; C. Casella; E. N. Imyanitov; A. Allavena; R. K. Schmutzler; B. Versmold; C. Engel; A. Meindl; N. Ditsch; N. Arnold; D. Niederacher; H. Deissler; B. Fiebig; R. Varon-Mateeva; D. Schaefer; U. G. Froster; T. Caldes; M. de la Hoya; L. McGuffog; A. C. Antoniou; H. Nevanlinna; P. Radice; J. Benitez
• Department/s: Breastcancer-genetics
• Publishing year: 2009
• Language: English
• Pages: 2048-2054
• Publication/Series: British Journal of Cancer
• Volume: 101
• Issue: 12
• Links: http://dx.doi.org/10.1038/sj.bjc.6605416
• Document type: Journal article
• Publisher: Nature Publishing Group
• Topic: Cancer and Oncology
• Keywords: breast cancer; ERCC4; BRCA1; BRCA2
• Status: Published
• ISBN/ISSN/Other: ISSN: 1532-1827