Mutated in tumors

Articles

• JAK2
  8 November 2005

  Janus activated kinase 2

• 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 (...)

• GNAQ
  29 April 2016

  WP
  Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the GNAQ gene. Together with GNA11 (its paralogue), it functions as a Gq alpha subunit.
  Pathology
  mutated in melanocytic tumors uveal and conjunctival melanoma.
  Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis. (#26778290#)
  Open references
  Genetic profile of GNAQ-mutated blue melanocytic neoplasms (...)

• 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 (...)

• FLT3
  29 October 2003

  FMS-like tyrosine kinase 3

• KRAS
  14 April 2004

  Ki-ras, KRAS2

• 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 (...)

• MSR1
  6 October 2003

  macrophage scavenger receptor 1

• NF1
  14 April 2004

  neurofibromin

• 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 (...)

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