Ontology highlight
ABSTRACT:
SUBMITTER: Carbone M
PROVIDER: S-EPMC8006752 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Carbone Michele M Harbour J William JW Brugarolas James J Bononi Angela A Pagano Ian I Dey Anwesha A Krausz Thomas T Pass Harvey I HI Yang Haining H Gaudino Giovanni G
Cancer discovery 20200720 8
Among more than 200 <i>BAP1</i>-mutant families affected by the "BAP1 cancer syndrome," nearly all individuals inheriting a <i>BAP1</i> 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 <i>BAP1</i> mutations. Mechanistic studies revealed that the tumor suppressor function of B ...[more]