Mutated in tumors

Articles

• 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 (...)

• BAX
  22 April 2008

  Bcl-2–associated X protein

• HRAS
  14 April 2004

  Pathology
  Ras genes are the most common targets for somatic gain-of-function mutations in human cancer. Many of these mutant alleles encode proteins with aberrant biochemical and functional properties.
  somatic mutations in:
  colorectal adenocarcinoma
  bladder carcinoma
  thyroid follicular carcinoma
  Spit nevus / Spitzoid tumors
  malignant ectomesenchymoma (#26872011#)
  Germline mutations that affect components of the Ras-Raf-mitogen-activated and extracellular-signal regulated (...)

• NF1
  14 April 2004

  neurofibromin

• KRAS
  14 April 2004

  Ki-ras, KRAS2

• JAK2
  8 November 2005

  Janus activated kinase 2

• 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 (...)

• FLT3
  29 October 2003

  FMS-like tyrosine kinase 3

• 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 (...)

• PDGFRA
  12 December 2003

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

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