Ontology highlight
ABSTRACT:
SUBMITTER: Wadt K
PROVIDER: S-EPMC7453745 | biostudies-literature | 2012 Nov
REPOSITORIES: biostudies-literature
Wadt Karin K Choi Jiyeon J Chung Joon-Yong JY Kiilgaard Jens J Heegaard Steffen S Drzewiecki Krzysztof T KT Trent Jeffrey M JM Hewitt Stephen M SM Hayward Nicholas K NK Gerdes Anne-Marie AM Brown Kevin M KM
Pigment cell & melanoma research 20121001 6
Inactivating germ line BRCA1-associated protein-1 (BAP1) mutations have recently been reported in families with uveal or cutaneous malignant melanoma (UMM, CMM), mesothelioma, and meningioma. Although apparently predisposing to a wide range of tumors, the exact tumor spectrum associated with germ line BAP1 mutations has yet to be established. Here, we report a novel germ line BAP1 splice mutation, c.1708C>G (p.Leu570fs*40), in a multiple-case Danish UMM family with a spectrum of other tumors. Wh ...[more]