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Study Tallies PTEN-Related Cancer Risk Patterns

A team at Myriad Genetics, the Cleveland Clinic, and Case Western Reserve University explores PTEN ties to cancer risk in a JCO Precision Oncology paper. The researchers tracked down pathogenic PTEN variants in 193 of the 727,091 individuals profiled with multigene panel sequencing from the fall of 2013 to February 2022. Together with personal and family history data, the hereditary cancer risk data pointed to particularly pronounced risk of female breast cancer, endometrial cancer, thyroid cancer, and colon polyps in individuals carrying pathogenic PTEN variants, along with more tenuous ties to ovarian cancer. "Our results suggest that, irrespective of clinical diagnosis, PTEN [pathogenic variants] were associated with earlier disease onset," the authors report, noting that "our observation of little to no association between PTEN [pathogenic variants] and familial cancer, despite being sufficiently powered to see such associations, suggests that many PTEN [pathogenic variants] arise de novo, consistent with previous reports."