Medical Student Research Forum Posters

Cutaneous melanoma results from the malignant transformation of melanocytes in skin and accounts for 75% of deaths related to skin cancer. Between 5 to 12% of melanoma cases can be attributed to hereditary melanoma, melanoma caused by inherited germline mutations in melanoma predisposition genes. Although several inherited melanoma predisposition syndromes have been identified, a subset of melanoma families lack pathogenic mutations in known highly penetrant predisposition genes, including CDKN2A, CDK4, and BAP1. Here we report the case of a woman with a history of melanoma and multiple primary tumors with one pathogenic germline mutation in BUB1B