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Germline variants incidentally detected via tumor-only genomic profiling of patients with mesothelioma

Dr. Michael Drazer
Dr. Michael Drazer

Patients with mesothelioma often have next-generation sequencing (NGS) of their tumor performed. Tumor-only NGS may incidentally identify germline pathogenic or likely pathogenic (P/LP) variants despite not being designed for this purpose. It is unknown how frequently patients with mesothelioma have germline P/LP variants incidentally detected via tumor-only NGS. In a case series of 161 unrelated patients with mesothelioma at The University of Chicago Medicine, 16% carried a P/LP variant associated with hereditary cancer syndromes. The authors conclude that these findings suggest that mesothelioma patients may benefit from universal germline testing.

Original publicationjamanetwork.com
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