Mutated in tumors

Articles

• BAP1
  15 March 2012

  BRCA1-associated protein-1 (ubiquitin carboxy-terminal hydrolase) hucep-6, KIAA0272, UCHL2
  Images
  CDKN2A FISH and BAP1 IHC in malignant mesothelioma
  https://twitter.com/PathologyTweet/status/813386502914838528
  Peritoneal malignant mesothelioma with loss of BAP-1
  https://twitter.com/sam_albadri/status/862788854708883457
  Pathology
  Germline mutations in BAP1
  in melanocytic tumors
  Germline mutations in BAP1 cause a familial tumor syndrome characterized by high penetrance for (...)

• MSH6
  29 September 2003

  mismatch repair gene WKP
  Definition : MSH6 or mutS homolog 6 is a gene that codes for DNA mismatch repair protein Msh6 in the budding yeast Saccharomyces cerevisiae. It is the homologue of the human "G/T binding protein," (GTBP) also called p160 or hMSH6 (human MSH6). The MSH6 protein is a member of the Mutator S (MutS) family of proteins that are involved in DNA damage repair.
  Defects in hMSH6 are associated with atypical hereditary nonpolyposis colorectal cancer not fulfilling the (...)

• KRAS
  14 April 2004

  Ki-ras, KRAS2

• MSR1
  6 October 2003

  macrophage scavenger receptor 1

• DDR2
  20 December 2012

  WKP
  Definition: Discoidin domain receptor family, member 2, also known as DDR2 or CD167b (cluster of differentiation 167b), is a human gene coding for a receptor tyrosine kinases (RTK).
  This gene encodes a member of a novel subclass of RTKs and contains a distinct extracellular region encompassing a factor VIII-like domain.
  Alternative splicing in the 5’ UTR results in multiple transcript variants encoding the same protein.
  Pathology
  Mutations in the DDR2 kinase gene in pulmonary (...)

• BAX
  22 April 2008

  Bcl-2–associated X protein

• VHL
  23 September 2003

  The protein encoded by the VHL gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity.
  This complex is involved in the ubiquitination and degradation of a hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen.
  RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript (...)

• GNAS
  29 September 2003

  GNAS1, NESP55, NESP-55, neuroendocrine secretory protein-55

• PDGFRA
  12 December 2003

  platelet-derived growth factor receptor (PDGFR) alpha, PDGFR-alpha

• KIT
  12 December 2003

  c-kit; CD117
  Definition: The proto-oncogene c-kit / CC117 is a receptor tyrosine kinase recognized to initiate essential signal transduction pathways that transmit biological signals for cellular proliferation, differentiation, and metastasis. Aberrant expression or mutation of c-kit has been shown to be involved in the pathogenesis of many cancers. See also CD117 IHCDB
  Expression in cells
  c-KIT positive spermatogonia
  Expression in tumors (Exemples)
  chromophobe renal cell (...)

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