Cut it out.

Over interpreting genetic risk of breast cancer, that is. High-risk germline mutations in genes like BRCA confer >11x the risk of developing breast cancer, where there is a well-defined role for prophylactic surgical measures. But should we turn to the knife with “moderate" risk mutations, such as ATM or CHEK2? Enter this review article that helps put a lot of this in perspective, particularly the table summarizing relative risks (RR) conferred by 22 of the most well-known offenders. Other thanBRCA1/2, PALB2, CDH1 and TP53, none are associated with a RR of breast cancer that surpasses 3. In other words, less than the risk associated with atypical ductal or lobular hyperplasia. TBL: If you are uncertain of the clinical meaning of a germline mutation in a patient with breast cancer, it almost certainly means prophylactic mastectomy isn’t called for. Weiss, JAMA Surg 2018


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