Multigene Panel Testing Outcomes in Patients with Uveal Melanoma: Implementation of National Guidelines
Byrne, L.; Gray, I.; Ramsey, K.; McElroy, J.; Schreiner, E.; Wolfe, J.; Taylor, O. B.; Davidorf, F.; Cebulla, C. M.; Abdel-Rahman, M. H.
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This study aimed to evaluate the outcome of germline clinical genetic testing in uveal melanoma (UM) patients who met the National Comprehensive Cancer Network (NCCN) guidelines for genetic testing. A retrospective chart review was conducted on UM patients seen in The Ohio State University Cancer Genetics Clinic between 5/1/2021-9/19/2025. Seventy individuals underwent clinical genetic testing, primarily via large multi-gene panels. Ten UM patients, including two related individuals, had pathogenic or likely pathogenic (P/LP) variants in known cancer genes (BAP1, BRCA1, BRCA2, MBD4, MUTYH, POT1, XRCC2). Among unrelated individuals, the positive rate was12.9% (8/70). Excluding carrier genes, the rate was10% (7/70) Eight patients would have been missed if only tested for BAP1 per ASCO 2024 recommendations. There was no association between tumor size, stage and germline P/LP variants. In summary, NCCN guidelines are useful in the prioritization of UM patients for genetic testing. Additionally, large panel testing, rather than BAP1 single gene testing, is recommended.
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