Mutated in tumors

Articles

• AIM2
  31 August 2007

  AIM2 encodes a deduced 344-amino acid protein that contains a conserved sequence domain of approximately 200 amino acids shared with interferon-inducible genes as IFI16 (MIM.147586) and MNDA (MIM.159553) as well as a tyrosine kinase phosphorylation site.
  Northern blot analysis revealed expression of a 2-kb AIM2 transcript in spleen, small intestine, and peripheral blood leukocytes as well as a slightly larger transcript in testis. Overexpression of AIM2 reversed the tumorigenic phenotype (...)

• FBXW7
  31 January 2008

  cdc4, archipelago, F-Box and WD40 domain protein 7, hCDC4, homolog of drosophila Archipelago

• JAK2
  8 November 2005

  Janus activated kinase 2

• MSR1
  6 October 2003

  macrophage scavenger receptor 1

• CDH1
  20 December 2007

  E-cadherin, cadherin-1, uvomorulin, epithelial cadherin WP HGNC PO
  Definition: Tumor suppressor gene CDH1 is at 16q22.1 Calcium-dependent transmembrane epithelial protein that promotes intercellular adhesion.
  Cadherin-1 (cadherin-E) is a specific calcium ion-dependent cell adhesion molecule. E-cadherin is simultaneously a major cell-adhesion molecule, a tumour suppressor protein, a determinant of cell polarity and a partner to the potent catenin signalling molecules.
  Its loss is (...)

• PALB2
  23 February 2007

  Definition: PALB2 was identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and predispose to childhood malignancies.
  PALB2 co-localizes with BRCA2 (MIM.600185) in nuclear foci, promotes its localization and stability in nuclear structures, and enables its recombinational repair and checkpoint functions. PALB2 is a nuclear binding partner of BRCA2.
  Pathology
  Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and (...)

• 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 (...)

• 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 (...)

• BAX
  22 April 2008

  Bcl-2–associated X protein

• PPP2R1B
  20 June 2005

  PPA2

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