Uveal Melanoma in BAP1 Tumor Predisposition Syndrome: Estimation of Risk.
Sign Up to like & getrecommendations! Published in 2020 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2020.12.005
Abstract: PURPOSE To estimate point prevalence of uveal melanoma in the patients with germline BAP1 pathogenic variant. DESIGN Cohort study with risk assessment using Bayesian analysis. METHODS The point prevalence estimate was obtained by Bayes' rule… read more here.
Keywords: melanoma; risk; germline bap1; prevalence ... See more keywords
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
Oncologist-led germline genetic testing for uveal melanoma
Sign Up to like & getrecommendations! Published in 2023 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2023.2191707
Abstract: ABSTRACT Purpose To report the genotype and phenotype of a cohort of unselected uveal melanoma (UM) patients who had germline multi-gene panel genetic testing, including the BAP1 gene, from a large multi-ethnic cancer centre. We… read more here.
Keywords: unselected patients; germline genetic; genetic testing; germline bap1 ... 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