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Six SNPs have been detected in the DNA repair genes RAD51C and RAD51D, not previously characterized. The novel variant E233G in RAD51D is more highly represented in high-risk, site-specific, familial breast cancer cases that are not associated with the BRCA1/2 genes, with a frequency of 5.74% (n = 174) compared to a control population (n = 567) and another subset of breast cancer patients (n = 765) with a prevalence of around 2% only (comparison to controls, OR = 2.6, 95% CI 1.12-6.03; p < 0.021). We found that the immunohistochemical profile detected in available tumors from these patients differs slightly from those described in non-BRCA1/2 tumors. Finally, the structural prediction of the putative functional consequence of this change indicates that it can diminish protein stability and structure. This suggests a role for E233G as a low-penetrance susceptibility gene in the specific subgroup of high-risk familial breast cancer cases that are not related to BRCA1/2.

Original publication




Journal article


Int J Cancer

Publication Date





845 - 849


Age of Onset, Amino Acid Substitution, Breast Neoplasms, DNA-Binding Proteins, Female, Gene Frequency, Genes, BRCA1, Genes, BRCA2, Humans, Middle Aged, Mutation, Mutation, Missense, Ovarian Neoplasms, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Reference Values