The limited data on cancer phenotypes in men with germline BRCA1 and BRCA2 pathogenic variants (PVs) has hampered the development of evidence-based recommendations for early cancer detection and risk reduction in this population.
Now, the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has published the findings of a retrospective cohort study of 6,902 men, including 3,651 BRCA1 and 3,251 BRCA2 PV carriers, recruited from cancer genetics clinics in 33 countries
Among participants, 1,634 cancers were diagnosed in 1,376 men (19.9%), the majority (67%) being BRCA2 PV carriers.
The probability of being affected by any cancer was higher in BRCA2 vs BRCA1 PV carriers (odds ratio (OR) 3.23; 95% CI 2.81-3.70; P<.001>
A higher frequency of breast (OR 5.47; 95% CI 4.06-7.37; P<.001 and prostate ci p=".008)" cancers was associated with a higher probability of being brca2 pv carrier.>
Among cancers other than breast and prostate, pancreatic cancer was associated with a higher probability (OR 3.00; 95% CI 1.55-5.81; P=.001) and colorectal cancer with a lower probability (OR 0.47; 95% CI 0.29-0.78; P=.003) of being a BRCA2 PV carrier.
These data may inform future recommendations for surveillance of BRCA1/2-associated cancers.