Year: 2020
Type: article
Study design: Case Report
Abstract: BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is an inherited cancer syndrome arising from pathogenic germline variations in BAP1. Affected individuals have increased risk for uveal melanoma, cutaneous melanoma, renal cell carcinoma, and malignant mesothelioma as well as characteristic benign cutaneous lesions (BAP1-inactivated nevi), basal cell carcinomas (BCCs), and other malignancies.1-3 The full phenotypic neoplastic spectrum is still being investigated. We present the case of a 15-year-old girl with uveal melanoma leading to a diagnosis of BAP1-TPDS.
Source: JAAD Case Reports
Authors: Kelly Z. Young, Sara L. Fossum, Lori Lowe, Tobias Else, Leslie A. Fecher, Hakan Demirci, Kelly B. Cha
Institutions: University of Michigan, Michigan Medicine
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $600
OpenAlex ID: W3018419097