Next-generation sequencing has revolutionized precision oncology, with paired somatic and germline DNA variant analysis becoming more powerful and more widely accessible for clinical applications. The field of clinical cancer genetics previously relied primarily on a patient’s personal and family medical history to delineate specific hereditary cancer syndromes that are associated with deleterious variants in specific genes. Tumor sequencing technology is currently used frequently in oncology with the goal of identifying deleterious gene variants that are actionable or druggable, resulting in the rapid proliferation of targeted anticancer therapies. Through this approach, a significant portion of patients have been incidentally found to have pathogenic or likely pathogenic germline mutations, and a previous study1 found that patients with advanced cancers across tumor types are enriched for hereditary pathogenic variants in cancer-related genes. Of importance, many of these patients do not meet current clinical criteria for germline testing. Thus, mutations in genes that are potentially associated with a patient’s cancer treatment and care, as well as cancer risk and prevention for the patient’s family members, are going undiscovered.
Pilié PG, Cooney KA. Broadening the View of Germline Mutations in Kidney Cancer. JAMA Oncol. 2018;4(9):1235–1236. doi:10.1001/jamaoncol.2018.2015
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