Article
Two unique BAP1 pathogenic variants identified in the same family by panel cascade testing.
Familial cancer - 1 Jul 2023
Byrne Lindsey, Ingalls Cana, Ansari Aliya, Porteus Cassie, Donenberg Talia R, Sussman Daniel A, Cebulla Colleen M, Abdel-Rahman Mohamed H
Abstract excerpt
Germline pathogenic variants in the tumor suppressor gene BAP1 are associated with the hereditary tumor predisposition syndrome with susceptibility to uveal melanoma, mesothelioma, cutaneous melanoma, renal cell carcinoma, and other cancers. Germline BAP1 pathogenic variants are rare in the non-cancer general population with an estimated carrier frequency of 1:19,898 but more common in cancer patients with a...
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