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BackgroundIn 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.MethodsWe 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.ResultsWe 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.ConclusionThis SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.

Original publication




Journal article


British journal of cancer

Publication Date





2048 - 2054


Human Genetics Group, Spanish National Cancer Research Centre, C/Melchor Fernández Almagro 3, 28029 Madrid, Spain.


KConFab, OCGN, SWE-BRCA, HEBON, EMBRACE, GEMO, Breast Cancer Family Registry, CMBA, Humans, DNA-Binding Proteins, Retrospective Studies, Cohort Studies, Heterozygote, Mutation, Polymorphism, Single Nucleotide, Genes, BRCA1, Genes, BRCA2, Female