P2 Clinical Utility of Universal Genetic Predisposition Testing in Cancer Patients and Impact on Patients with Gynecologic Malignancies
Gynecologic oncology(2023)
摘要
The development of certain hereditary cancers can be attenuated or eliminated with early screening or risk-reduction interventions. For patients who undergo whole exome or whole genome testing, the American College of Medical Genomics and Genetics (ACMG) recommends reporting incidentally discovered pathogenic/likely pathogenic (P/LP) variants with highly penetrant phenotypes since these mutations have important treatment, prevention, or early disease identification strategies. The National Comprehensive Cancer Network (NCCN) recommends that all patients with epithelial ovarian and endometrial cancer under age 50 undergo germline genetic testing. The primary objective of this study is to assess the clinical utility of universal hereditary predisposition testing in cancer patients by comparing it to NCCN guideline-directed testing strategies.
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