BRoCA.

Quick, is it a pathogenic mutation in BRCA1 or BRCA2 that portends highest risk of breast and prostate cancer for males? Textbook answer is BRCA2, but how much do we know about these mutations in men, really? The international CIMBA effort has crowdsourced outcomes for over 6900 men with pathogenic BRCA1 and BRCA2 mutations. To date, 20% of men have developed cancer, over two-thirds of which were in men with BRCA2 mutations. Both breast and prostate cancers occurred more frequently with BRCA2 mutations (46% and 6% of cancers, respectively) than with BRCA1 (13% and 22%). While those rates are nothing to scoff at, it’s important to note that leaves 40% of their cancers occurring outside the breast or prostate, primarily in the skin and colon. TBL: Men with BRCA1/2 mutations have exceedingly high rates of all kinds of cancers that likely merit especially vigilant education and screening interventions. | Silvestri, JAMA Oncol 2020

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