Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.

JAMA network open(2023)

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摘要
In this case series of 161 patients with mesothelioma, 16% had confirmed germline P/LP variants. Given the implications of a hereditary cancer syndrome diagnosis for preventive care and familial counseling, clinical approaches for addressing incidental P/LP germline variants in tumor-only NGS are needed. Tumor-only sequencing should not replace dedicated germline testing. Universal germline testing is likely needed for patients with mesothelioma.
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关键词
mesothelioma,germline variants,genomic profiling,tumor-only
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