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Germline Mutations Up in Men With Prostate CA, One Other CA

However, most of these men do not meet current clinical criteria for germline testing

genetic helix

THURSDAY, July 6, 2017 (HealthDay News) -- Germline deleterious mutations are enriched among men with prostate cancer and at least one additional primary cancer, according to a study published online June 28 in Cancer.

Patrick G. Pilié, M.D., from the University of Texas MD Anderson Cancer Center in Houston, and colleagues described the prevalence of pathogenic germline variants in cancer-predisposing genes in 102 men with prostate cancer and at least one additional primary cancer. Germline DNA was sequenced using a multigene panel. A clinical genetic counselor independently reviewed cancer family history and clinicopathologic data to assess whether the patient met established criteria for testing for a hereditary cancer syndrome.

The researchers identified about 3,500 variants in sequencing. Across six genes (BRCA2, ataxia telangiectasia mutated, mutL homolog 1, BRCA1 interacting protein C-terminal helicase 1, partner and localizer of BRCA2, and fibroblast growth factor receptor 3), they identified nine protein-truncating deleterious mutations. In checkpoint kinase 2 and homeobox protein Hox-B13, likely pathogenic missense variants were identified. Overall, 10.8 percent of the patients were found to have pathogenic or likely pathogenic mutations in cancer-predisposing genes. Sixty-four percent of these men did not meet current clinical criteria for germline testing.

"Men with prostate cancer and at least one additional primary cancer are enriched for harboring a germline deleterious mutation in a cancer-predisposing gene that may impact cancer prognosis and treatment, but the majority do not meet current criteria for clinical genetic testing," the authors write.

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