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BRCA1/2 variants in males

Male carriers of BRCA 1/2 pathologic variants (PV) are increased risk of developing cancer.

Males represent half of BRCA 1/2 PV carries, but most people are unaware of their carrier status, associated cancer risks, and management recommendations.

The population prevalence of BRCA1/ 2 PV carriers is roughly one into 50 depending on specific ancestries.

BRCA 1/2 PV are associated with an increased risk of breast, pancreatic, and prostate cancer among men.

BRCA1 PV is estimated to confirm a 3.8 fold increased risk of prostate cancer and an absolute lifetime risk of 15 to 45%.

BRCA 2 PV is estimated to 4.7 to 8.6 fold increased risk of prostate cancer and absolute lifetime risk of 60%.

A substantial enrichment for BRCA1/2 PV’s compared to localized prostate cancer indicates a contribution to prostate tumorigenesis and metastatic potential.

Males who carry BRCA 1/2 PVs are at particularly high risk for aggressive prostate cancer.

Carries of BRCA1 PV have a 1.9 folding increase& risk of pancreatic cancer compared to the general population, with a lifetime risk of pancreatic cancer of 3%.

Carriers of BRCA2 PV have a 3 to 7.8 fold increase risk of developing pancreatic cancer, and a lifetime risk of up to 7%.

The excess of pancreatic cancer in carriers of BRCA1/2 PV’s increases significantly after 50 years of age.

The lifetime incidence of breast cancer is low in males at one in 833, the risk can be as high as 7 to 9% in male carriers of BRCA2 PV.

Male BRCA1 carriers have an estimated lifetime risk of up to 1.2% developing breast cancer.

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