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BAP1 activates Mesothelioma. 18 / 18
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"Interestingly, it has been shown that germline mutations in Bap1 can induce epigenetic deregulation of the Rb protein in mice, facilitating the development of malignant mesothelioma [72]."
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"On the other hand, the occasionally described heterozygous deletions of these genes cannot be completely excluded in our series, because NGS procedure and mode of data analysis were not sensitive to moderate CNV (copy number variation), the detection of which was not the aim of this panel.Germline mutations in BAP1 are known to underlie sometimes melanomas, renal cell carcinomas, malignant mesotheliomas, and some other cancers [31]."
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"In addition, a mutation in the BRCA1-associated protein-1 (BAP1) gene is implicated in UM metastasis, and is also known to promote the development of cutaneous melanoma, basal cell carcinoma, malignan[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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"Inactivation of one BAP1 allele causes a higher incidence of peritoneal mesotheliomas than wild-type littermates, in mice exposed to asbestos fibers."
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"The authors demonstrated a possible role of the polycomb repressive complex 2 (PRC2) in Bap1-mediated mesothelioma."
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"BAP1 syndrome increases the risk of aggressive RCC, cutaneous melanocytic lesions, basal cell carcinoma, mesothelioma (frequently in the abdomen) and uveal melanoma [151,152,153]."
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"BAP1 PGVs accelerate mesothelioma tumorigenesis after asbestos exposure in preclinical models and may be partly predicted by clinical criteria."
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"BAP1 syndrome increases the risk of aggressive RCC, cutaneous melanocytic lesions, basal cell carcinoma, mesothelioma (often in the abdomen), and uveal melanoma [97]."
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"The data show that the top 2 mutant genes in both groups are BAP1 and NF2, which is consistent with the conclusion that the inactivation of BAP1 with loss of NF2 or CDKN2A promotes the development of malignant mesothelioma in approximately 20% of mice with double conditional knockout (CKO), as already reported in the previous literature."
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"BAP1 germline mutations underlie a rare, autosomal dominant tumour predisposition syndrome that is most commonly associated with (in order of decreasing frequency) atypical Spitz tumours, uveal melano[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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"Germline mutations in BAP1 increase susceptibility to low amounts of asbestos and could increase the risk of developing mesothelioma among carriers of this mutation, with an exposure dose considered harmless for the general population."
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"In summary, neither BAP1 nor CDKN2A inactivation contributed to mesothelioma, at least in one of these three patients.We considered whether the 2 BARD1 mutations and the BARD1 deletion described above might be causally linked to mesothelioma because of their high in silico pathogenicity prediction scores, their low frequency in the human population, the early onset of these mesotheliomas and the unusually significant prolonged survival of these three patients."
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"BRCA1 Associated Protein-1（BAP1）, identified as an epithelioid mesothelioma marker linked to a better prognosis, is believed to enhance the susceptibility of mesothelioma cells to the ferroptosis init[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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"Malignant pleural mesothelioma (MPM) is caused by genetic abnormalities and gene mutations in BAP1, CDKN2A, epigenetic regulators (KDM4A, LSD1) and signaling proteins (GRP78, STAT3)."
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"Germline mutations in BAP1 greatly enhanced the sensitivity of mice to develop mesothelioma when exposed to asbestos 50."
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"Napolitano et al. (2016) found that germline BAP1 heterozygosity increased mesothelioma incidence by way of the peritoneal inflammatory response when exposed to low-dose asbestos fibers."
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"Currently, the available human data leans toward the notion that germline mutations (BAP1 and others) may induce mesothelioma independent of asbestos exposure (Attanoos et al., 2018)."
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"In this regard, mesothelioma is considered a malignancy that cannot be cured surgically; however, there are a few cases of patients from families with malignant mesothelioma caused by germline BAP1 or other tumor suppressor mutations who, because of screening and a high degree of suspicion, underwent surgery at a very early stage, and most of them are alive and apparently tumor-free 10 years postsurgical resection (2 of them at 18 years and 21 years, respectively, postsurgery)."
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