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Genotypic and phenotypic features of BAP1 cancer syndrome: A report of 8 new families and review of cases in the literature

JAMA Dermatology Aug 14, 2017

Haugh AM, et al. – This trial elucidated 8 new families with germline mutations in BAP1 cancer syndrome. It was noted that germline mutations in both coding and noncoding regions throughout the BAP1 gene could impair protein function, causing an increased risk for various linked malignancies. Four of the 8 probands did not report any history of BAP1–associated malignancies. They were inspected for germline mutations when melanocytic BAP1–mutated atypical intradermal tumors (MBAITs) were detected on dermatologic examination. Dermatologists could detect patients with a high tendency of the BAP1 cancer syndrome through personal and family history and total–body skin examinations (TBSE) for the presence of possible MBAITs.
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