Ontology highlight
ABSTRACT:
SUBMITTER: Gerami P
PROVIDER: S-EPMC5831190 | biostudies-literature | 2015 Nov
REPOSITORIES: biostudies-literature
Gerami Pedram P Yélamos Oriol O Lee Christina Y CY Obregon Roxana R Yazdan Pedram P Sholl Lauren M LM Guitart Gerta E GE Njauw Ching-Ni CN Tsao Hensin H
JAMA dermatology 20151101 11
<h4>Importance</h4>Several kindreds having germline BAP1 mutations with a propensity for uveal and cutaneous melanomas and other internal malignancies have been described in an autosomal dominant tumor predisposition syndrome. However, clinically atypical moles have not been previously recognized as a component of this syndrome, to our knowledge. We describe the first kindred to date with a germline mutation in BAP1 associated with multiple cutaneous melanomas and classic dysplastic nevus syndro ...[more]