Article
A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancers.
PloS one - 1 Jan 2013
Aoude Lauren G, Wadt Karin, Bojesen Anders, Crüger Dorthe, Borg Ake, Trent Jeffrey M, Brown Kevin M, Gerdes Anne-Marie, Jönsson Göran, Hayward Nicholas K
Abstract excerpt
Truncating germline mutations in the tumor suppressor gene BRCA-1 associated protein-1 (BAP1) have been reported in families predisposed to developing a wide range of different cancer types including uveal melanoma and cutaneous melanoma. There has also been an association between amelanotic tumor development and germline BAP1 mutation suggesting a possible phenotypic characteristic of BAP1 mutation carriers....
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