BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Disease: Malignant transformation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.030 Biomarker phenotype BEFREE BAP1 is the most frequently inactivated gene in MPM; BAP1 deficiency triggers malignant transformation via disruption of DNA repair, transcription regulation, cell metabolism, apoptosis, and ferroptosis. 31119375 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.030 GeneticVariation phenotype BEFREE We performed targeted next-generation sequencing of the tumor which revealed mutations of GNAQ and BAP1, suggesting that alterations in these two genes led to malignant transformation of the nevus of Ito. 26260725 2016
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.030 GeneticVariation phenotype BEFREE However, BAP1 and ASXL1 are mutated in distinct cancer types, consistent with independent roles in regulating epigenetic state and malignant transformation. 26437366 2015