Mutation analysis of in male breast cancer cases: a population-based study in Central Italy
Abstract
Breast cancer (BC) in men is rare compared with BC in women, but its incidence is increasing along with attention toward this uncommon disease. Although with some differences, male and female BC share similar genetic predisposition factors, including , , and mutations. As other functionally related DNA repair genes, such as and , is considered a moderate-penetrance BC susceptibility gene. At present, the role of on BC susceptibility in men is unknown. In this study, we aimed to assess whether variants may contribute to male BC (MBC) risk, by screening 97 MBC cases, all negative for , , and mutations, selected from a population-based series of 126 MBCs from Central Italy. A total of five germ-line sequence alterations, three coding, and two non-coding variants, were detected in our series. The two non-coding variants IVS4-28G > A and 3′UTR 4049C > T were classified as neutral by analysis. Of the three coding variants, one was a silent variant (E879E) and two resulted in amino acid substitution (R264W and P919S) showing a putative pathogenic role by analysis. However, further analysis of tumor-associated loss of heterozygosity and the frequency of variant alleles, tested in 203 male population controls, suggested a neutral effect for both of these variants. Overall, our results indicate that variants may not play a relevant role in MBC predisposition.
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