BAP1

BAP1

A gene on chromosome 3p21.31-p21.2 that encodes a tumour-suppressing enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A and HCFC1. BAP1 forms the catalytic component of the PR-DUB complex, which specifically mediates deubiquitination of histone H2A monoubiquitinated at “Lys-119”. BAP1 is also a less preferred gene symbol for what is now designated as MAGI1, see there.
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These include highly penetrant genes such as VHL, MET, BAP1, and FLCN where individuals develop RCC at young ages, and have a family history suggestive of an inherited etiology.
Effects on survival of BAP1 and PBRM1 mutations in sporadic clear-cell renal-cell carcinoma: A retrospective analysis with independent validation.
BAP1 immunohistochemistry and p16 FISH to separate benign from malignant mesothelial proliferations.
Genes Tested AtP ALK APC ATM BAP1 BRCA2 BRIP1 BUB1B CDC73 CDH1 CEP57 CHEK2 CYLD DDB2 DICER1 ERCC3 ERCC4 ERCC5 EXT1 EXT2 FANCD2 FANCE FANCF FANCG FANCI GATA2 GPC3 HNF1A HOXB13 HRAS MLH1 MHS2 MSH6 MUTYH NBN PHOX2B PMS1 PMS2 PPM1D PRF1 RAD51D RBI RECQL4 RET RHBDF2 SDHC SDHD SLX4 SMAD4 SMARCA4 TP53 TSC1 TSC2 VHL WT1 BARD1 BLM BMPR1A BRCA1 CDK4 CDKN1C CDKN2A CEBPA DI53L2 EGFR EPCAM ERCC2 EZH2 FANCA FANCB FANCC FANCL FANCM FH FLCN KIT MAX MEN1 MET NF1 NF2 NSD1 PALB2 PRKAR1A PTCH1 PTEN RAD51C RUN XI SBDS SDHAF2 SDHB SMARCB1 STK11 5UFU TMEM127 WRN XPA XPC This chart shows all 98 cancer susceptible genes included in this new test.
In one sample, the team detected a mutation in the BAP1 gene along with telltale physical features (such as the shape of the tumor cells) of rhabdoid meningioma.
Biopharmaceutical company Epizyme (NasdaqGS:EPZM) said on Tuesday that the US Food and Drug Administration has filed its Investigational New Drug (IND) application for tazemetostat for the treatment of adults with mesothelioma characterized by BAP1 loss-of-function.
Familial uveal melanoma: Recently, an autosomal dominant hereditary cancer syndrome has been described in some patients with germline BAP1 mutation.
Klebe, "Challenges and controversies in the diagnosis of malignant mesothelioma--part 2: malignant mesothelioma subtypes, pleural synovial sarcoma, molecular and prognostic aspects of mesothelioma, BAP1, aquaporin-1 and microRNA," Journal of Clinical Pathology, vol.
Germline BAP1 mutations predispose to malignant mesothelioma.
This analysis identified eight new breast cancer risk genes (ATR, BAP1, CHEK1, GEN1, KANK4, OBSL1, RAD51B, and TP53BP1), some of which are now included on clinically available cancer risk panels (C.
BAP2: A manufacturing line similar to BAP1, but with realistic real-world processing times: the times are offset by a minimum (a task cannot be executed in less time), and the distributions are truncated (a task has a finite duration).