Germline BAP1 mutations induce a Warburg effect
Sign Up to like & getrecommendations! Published in 2017 at "Cell Death and Differentiation"
DOI: 10.1038/cdd.2017.95
Abstract: Carriers of heterozygous germline BAP1 mutations (BAP1+/−) develop cancer. We studied plasma from 16 BAP1+/− individuals from 2 families carrying different germline BAP1 mutations and 30 BAP1 wild-type (BAP1WT) controls from these same families. Plasma… read more here.
Keywords: warburg effect; bap1; germline bap1; bap1 mutations ... See more keywords
BAP1 is a novel regulator of HIF-1α.
Sign Up to like & getrecommendations! Published in 2023 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2217840120
Abstract: BAP1 is a powerful tumor suppressor gene characterized by haplo insufficiency. Individuals carrying germline BAP1 mutations often develop mesothelioma, an aggressive malignancy of the serosal layers covering the lungs, pericardium, and abdominal cavity. Intriguingly, mesotheliomas… read more here.
Keywords: bap1 mutations; bap1; hif; germline bap1 ... See more keywords
Familial and Somatic BAP1 Mutations Inactivate ASXL1/2-Mediated Allosteric Regulation of BAP1 Deubiquitinase by Targeting Multiple Independent Domains.
Sign Up to like & getrecommendations! Published in 2018 at "Cancer research"
DOI: 10.1158/0008-5472.can-17-2876
Abstract: Deleterious mutations of the ubiquitin carboxy-terminal hydrolase BAP1 found in cancers are predicted to encode inactive truncated proteins, suggesting that loss of enzyme function is a primary tumorigenic mechanism. However, many tumors exhibit missense mutations… read more here.
Keywords: mutations inactivate; bap1; bap1 asxl2; bap1 mutations ... See more keywords
Abstract 5519: BAP1 modulates gene-environment interaction in carcinogenesis
Sign Up to like & getrecommendations! Published in 2018 at "Cancer Research"
DOI: 10.1158/1538-7445.am2018-5519
Abstract: We discovered that heterozygous germline BAP1 mutations (BAP1+/-) cause a novel cancer syndrome that we named “The BAP1 cancer syndrome” characterized by development of malignant mesothelioma (MM), uveal and cutaneous melanoma, and other cancers. We… read more here.
Keywords: bap1; bap1 mutations; ca2; bap1 modulates ... See more keywords
Biological Mechanisms and Clinical Significance of BAP1 Mutations in Human Cancer.
Sign Up to like & getrecommendations! Published in 2020 at "Cancer discovery"
DOI: 10.1158/2159-8290.cd-19-1220
Abstract: 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… read more here.
Keywords: bap1; cancer; mechanisms clinical; bap1 mutations ... See more keywords
Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma
Sign Up to like & getrecommendations! Published in 2018 at "BMC Cancer"
DOI: 10.1186/s12885-018-5079-x
Abstract: BackgroundGermline mutations in BAP1 have been associated with BAP1-Tumor Predisposition Syndrome (BAP1-TPDS), a predisposition to multiple tumors within a family that includes uveal melanoma (UM), cutaneous melanoma, malignant mesothelioma and renal cell carcinoma. Alternatively, somatic… read more here.
Keywords: bap1; risk metastasis; bap1 mutations; metastasis ... See more keywords
Determining the prevalence of germline BAP1 mutations in malignant mesothelioma (MM).
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2017.35.15_suppl.e13118
Abstract: e13118Background: Somatic BAP1 mutations are very common in MM tumors (Bueno et al. Nat Genet 2016, Bott et al. Nature Genet 2011) and germline BAP1 mutations have also been shown to segregate in numerous families… read more here.
Keywords: germline bap1; bap1; bap1 mutations; prevalence germline ... See more keywords