(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 in Cancer.

Patrick G. Pilié, MD, 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 3500 variants in sequencing. Across 6 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 9 protein-truncating deleterious mutations. In checkpoint kinase 2 and homeobox protein Hox-B13, likely pathogenic missense variants were identified. Overall, 10.8% 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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  1. Pilié PG, Johnson AM, Hanson KL, et al. Germline genetic variants in men with prostate cancer and one or more additional cancers. Cancer. 28 June 2017. doi: 10.1002/cncr.30817