Case report reveals high penetrance of prostate and breast cancer in a family with an ATM gene mutation, suggesting variant-specific cancer risk heterogeneity.
Introduction Germline pathogenic variants (GPVs) in the in ataxia-telangiectasia mutated ( ATM ) gene are present in approximately 0.35% of the population, and are associated with increased risks of breast, pancreatic and prostate cancer. Case We describe a family of Portuguese descent with a germline protein-truncating variant in ATM ( c.450_453del) with a striking aggregation of prostate cancer and breast cancer on both the paternal and maternal lineages. Discussion The family described here illustrates high penetrance for prostate and breast cancer and illuminates possible heterogeneity in the familial risk of prostate cancer according to the specific variant in the ATM gene.
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Murphy et al. (2026) studied this question.
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