Ricerc@Sapienza

The possibility that the use of hormonal contraceptives may increase the risk of breast cancer has been raised since many years. In the past this hypothesis has been dismissed on the basis that available data were generally derived from “old” studies in which relatively high hormone doses had been used. The recent publication of two studies that analysed data from women receiving low-dose hormonal contraception and showed a statistically significant increase in breast cancer contradicts this reassuring belief.

Inherited mutations in BRCA1, and, mainly, BRCA2 genes are associated with increased risk of male breast cancer (MBC). Mutations in PALB2 and CHEK2 genes may also increase MBC risk. Overall, these genes are functionally linked to DNA repair pathways, highlighting the central role of genome maintenance in MBC genetic predisposition. MUTYH is a DNA repair gene whose biallelic germline variants cause MUTYH-associated polyposis (MAP) syndrome.