التفاصيل البيبلوغرافية
| العنوان: |
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). |
| المؤلفون: |
Osorio, A.1 aosorio@cnio.es, Milne, R. L.2, Pita, G.3, Peterlongo, P.4,5, Heikkinen, T.6, Simard, J.7, Chenevix-Trench, G.8, Spurdle, A. B.8, Beesley, J.8, Chen, X.8, Healey, S.9, Neuhausen, S. L.10, Ding, Y. C.10, Couch, F. J.11,12, Wang, X.11, Lindor, N.13, Manoukian, S.4, Barile, M.14, Viel, A.15, Tizzoni, L.5,16 |
| المصدر: |
British Journal of Cancer. 12/15/2009, Vol. 101 Issue 12, p2048-2054. 7p. 2 Charts. |
| مصطلحات موضوعية: |
*BREAST cancer, *DISEASE risk factors, *INTRONS, *RETROSPECTIVE studies, *GENETIC mutation, *COMPARATIVE studies, *GENETIC polymorphisms, *LONGITUDINAL method, *RESEARCH methodology, *MEDICAL cooperation, *RESEARCH, *RESEARCH funding, *DNA-binding proteins, *EVALUATION research, *BRCA genes, *GENETIC carriers |
| مستخلص: |
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. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
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