A new study has reported that men with BRCA2 mutations have an approximately 8% lifetime risk of breast cancer. BRCA2 mutations normally result in ER+/PR+ breast cancer. Male breast cancer is often associated with BRCA2 mutations, although the risk of developing breast cancer is also higher in men with BRCA1 mutations. Current estimates of the risk of breast cancer for men with BRCA2 mutations are based on a small number of retrospective studies. The authors studied 321 families with harmful BRCA2 mutations using both retrospective and prospective analyses.
Three male first-degree relatives of family members with BRCA2 mutations developed breast cancer, suggesting a risk of breast cancer to age 80 years of 8.9%. A second analysis found 16 breast cancers among 905 first-degree male relatives. This analysis found that the breast cancer risk in men was 7.1% by age 70 and 8.4% by age 80 years. In a separate interview, lead researcher Gareth Evans said, "There is a one in 1,000 chance of developing breast cancer as a man in the general population. Men don't have to have a faulty copy of BRCA2 do get breast cancer, but the highest risk for men is if they have a faulty copy of the gene." He also remarked that it was important for men who know they have the mutation, or who are from a family with a history of carrying the gene, to be aware of the risk.