Article
Biological Mechanisms and Clinical Significance of BAP1 Mutations in Human Cancer.
Cancer discovery - 1 Aug 2020
Carbone Michele, Harbour J William, Brugarolas James, Bononi Angela, Pagano Ian, Dey Anwesha, Krausz Thomas, Pass Harvey I, Yang Haining, Gaudino Giovanni
Abstract excerpt
Among more than 200 BAP1-mutant families affected by the "BAP1 cancer syndrome," nearly all individuals inheriting a BAP1 mutant allele developed one or more malignancies during their lifetime, mostly uveal and cutaneous melanoma, mesothelioma, and clear-cell renal cell carcinoma. These cancer types are also those that, when they occur sporadically, are more likely to carry somatic biallelic BAP1 mutations....
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