IndraLab

Statements

BAP1 activates Syndrome. 9 / 9
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"Furthermore, BAP1 germline mutations cause a tumor predisposition syndrome inherited in an autosomal dominant pattern, which confers a higher risk for developing a spectrum of benign and malignant tumors , including pancreatic cancer ."
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"Familial cancer predisposition syndrome caused by germline mutations in BAP1 is inherited in an autosomal dominant pattern."
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"The presence of multiple BAP1-negative melanocytic neoplasms is a hallmark of familial cancer susceptibility syndrome caused by germline mutations in BAP1."
30801340
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"Screening of genealogies from affected families led to the discovery of an inherited cancer syndrome caused by BAP1 germline mutations [68,69]."
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"Pathogenic germline variants in the BRCA1-associated protein 1 (BAP1) gene cause a dominantly inherited tumor predisposition syndrome, BAP1-TPDS, in which MM is the second most common associated cancer."
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"A rare familial syndrome at risk for ccRCC is caused by germline mutations in BAP1 ."
33144689
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"BIMTs can occur as a sporadic lesion or, less commonly, in the setting of an autosomal dominant cancer susceptibility syndrome caused by a BAP1 germline inactivating mutation."
34857909
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"Melanoma predisposition syndromes caused by pathogenic variants in POT1 and BAP1 are more recently described, and both are associated with Spitzoid tumors."
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"Altogether, these results define a clinical syndrome caused by rare germline missense BAP1 variants that alter chromatin remodeling through abnormal histone ubiquitination and lead to transcriptional dysregulation of developmental genes."
35051358