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Concurrent germline and somatic pathogenic BAP1 variants in a patient with metastatic bladder cancer

ABSTRACT: Germline pathogenic variants in the BRCA1-associated protein-1 (BAP1) gene cause the BAP1-tumor predisposition syndrome (BAP1-TPDS). BAP1-TPDS is associated with an increased risk of uveal and cutaneous melanoma, mesothelioma, renal cell carcinoma, and several other cancer subtypes. Here, we report a novel germline nonsense BAP1 variant (c.850G>T, p.Glu284Ter) in a patient with bladder cancer and a strong family history of malignancy. A concurrently identified somatic frameshift BAP1 variant and the predicted deleterious effects of the germline BAP1 variant provide strong evidence of pathogenicity in this case. With the addition of bladder cancer to the tumor types reported with germline BAP1 mutations, our understanding of BAP1-TPDS continues to evolve and may affect future screening and surveillance guidelines.

PROVIDER: EGAS00001004055 | EGA |

REPOSITORIES: EGA

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