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• W2161956488 abstract "Several components of the Fanconi anaemia (FA) family of proteins allow the formation of the DNA repair complex foci formed by proteins such as BRCA1/2 and RAD51. Because the genes that participate in the DNA repair pathway have been described as low-penetrance breast cancer susceptibility genes, we postulated that variants in FA genes could also be associated with sporadic breast cancer risk. We studied seven SNPs in FANCA , FANCL and FANCD2 in a total of 897 consecutive and non-related sporadic breast cancer cases and 1033 unaffected controls from the Spanish population. We observed a statistically significant association with sporadic breast cancer for the variant rs2272125 (L1366L) located on FANCD2 (OR per allele = 1.35; 95% C.I. 1.09–1.67; P = 0.005). Both haplotype and diplotype analyses confirmed this association, where one haplotype and pooled diplotypes carrying it were associated with more than 4-fold risk ( P = 0.007 and P = 0.006, respectively). Screening for potential causal variants in FANCD2 was performed, detecting one in the putative promoter region, which is located in a phylogenetically conserved motif with consensus binding sites for some transcriptional factors, suggesting a functional implication. Our data indicate that a relationship between FANCD2 and sporadic breast cancer risk may exist." @default.
• W2161956488 created "2016-06-24" @default.
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• W2161956488 date "2006-04-05" @default.
• W2161956488 modified "2023-10-15" @default.
• W2161956488 title "FANCD2 associated with sporadic breast cancer risk" @default.
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• W2161956488 doi "https://doi.org/10.1093/carcin/bgl062" @default.
• W2161956488 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16679306" @default.
• W2161956488 hasPublicationYear "2006" @default.
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