Male and female breast cancer: the two faces of the same genetic susceptibility coin

• Published in: Breast cancer research and treatment Vol. 188; no. 1; pp. 295 - 305
• Main Authors: Silva, Susana Nunes, Gomes, Bruno Costa, André, Saudade, Félix, Ana, Rodrigues, António Sebastião, Rueff, José
• Format: Journal Article
• Language: English
• Published: New York Springer US 01-07-2021; Springer; Springer Nature B.V
• Subjects: Breast cancer; Breast Neoplasms; Breast Neoplasms, Male - genetics; Cancer research; Case-Control Studies; Cohort Studies; Disease susceptibility; DNA Glycosylases - genetics; DNA repair; Epidemiology; Female; Females; Gene polymorphism; Genetic aspects; Genetic diversity; Genetic Predisposition to Disease; Genetic research; Genotype; Health aspects; Heterozygosity; Humans; Male; Males; Medicine; Medicine & Public Health; Mens health; Oncology; p53 Protein; Polymorphism, Single Nucleotide; Rare diseases; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Strategic planning (Business); Susceptibility; Tumor proteins; Tumor Suppressor Protein p53 - genetics; Women; X-ray Repair Cross Complementing Protein 1 - genetics; XRCC1 protein; Male Breast Cancer; Genetic variants in male and female breast cancer; DNA repair genes; XRCC1; TP53; MUTYH
• ISSN: 0167-6806; 1573-7217
• DOI: 10.1007/s10549-021-06159-x

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.
Results
The results obtained indicate significant differences in BC susceptibility between males and females for the
XRCC1
rs1799782,
MUTYH
rs3219489 and
TP53
rs1042522 and rs8064946 variants.
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.