Abstract
Background Breast cancer (BC) is the most common cancer in women. In contrast, male BC is about 100 times less common than in women, being considered a rare disease. Male BC may be a distinctive subtype of BC and available data seems to indicate that male BC has a higher dependence on genetic variants than female BC. Nevertheless, the same prognostic and predictive markers are used to determine optimal management strategies for both male and female BC. Several studies have assessed the role of genetic polymorphisms (SNPs) in DNA repair genes in female BC susceptibility. However, data on male BC is scarce. Thus, the current study aimed to assess the role of SNPs in XRCC1, MUTYH and TP53 genes in a male cohort of BC, and, in addition, compare the male data with matched results previously genotyped in female BC patients.Methods The male BC cohort was genotyped through Real-Time PCR using TaqMan Assays for several SNPs previously analysed in Portuguese female BC patients.ResultsThe results obtained indicate significant differences in BC susceptibility between males and females for the XRCC1 rs1799782, MUTYH rs3219489 and TP53 rs1042522 and rs8064946 variants.ConclusionsIn males, XRCC1 and TP53 variants, when in heterozygosity, seem to be related with lower susceptibility for BC, contrasting with higher susceptibility for a MUTYH variant in females. These findings may help to explain the difference in incidence of BC between the two sexes.
Highlights
Female Breast cancer (BC) is the leading cancer among women worldwide
The objective of this study was to genotype XRCC1, MUTYH and TP53 SNPs in a cohort of males with BC and match the results with a previously studied cohort of female BC patients, in order to identify new variants that might be involved in the predisposition to male BC and above all to check if differences in gene variants might exist between males and females with BC
The results indicate that the heterozygous genotype for the XRCC1 rs1799782 polymorphism in female patients is related to a higher susceptibility to breast cancer than in males [odds ratios (OR) 3.627; 95% confidence intervals (CI) 1.577–8.341]
Summary
Female BC is the leading cancer among women worldwide. In the last two decades, public attention and the improvement in breast imaging platforms have had a large impact in early diagnosis and screening of breast cancer resulting inIn contrast, male BC is a rare and poorly understood disease that represents about 1% of all BC cases in the Western world. Male BC is about 100 times less common than in women, being considered a rare disease. The current study aimed to assess the role of SNPs in XRCC1, MUTYH and TP53 genes in a male cohort of BC, and, in addition, compare the male data with matched results previously genotyped in female BC patients. Conclusions In males, XRCC1 and TP53 variants, when in heterozygosity, seem to be related with lower susceptibility for BC, contrasting with higher susceptibility for a MUTYH variant in females. These findings may help to explain the difference in incidence of BC between the two sexes
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