Inactivated in tumors

Articles

• MLH1
  29 September 2003

  mismatch repair gene
  MLH is homologous to the E. coli MutL gene and is involved in DNA mismatch repair. Mutations in the MLH1 gene result in hereditary nonpolyposis colorectal cancer-2 (HNPCC2) (MIM.609310).
  Pathology
  Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer predisposition syndrome caused by inherited germ line mutations in DNA mismatch repair genes, predominantly MSH2 and MLH1.
  MLH1 loss of expression (...)

• CTNNB1
  11 July 2003

  CTNNB1, cadherin-associated protein, beta-catenin PO WP
  Definition: Protein encoded by CTNNB1 gene, coordinates cell–cell adhesion and gene transcription.
  Function
  Part of Wnt signalling pathway, highly conserved pathway with critical role in embryologic development (Dev Cell 2009;17:9), carcinogenesis and epithelial-to-mesenchymal transition.
  Upon Wnt activation, β-catenin is translocated from membrane (where it interacts with E-cadherin) to cytoplasm and nucleus, where it (...)

• CDKN2A
  12 December 2003

  p16 protein, P16, INK4, INK4A, CYCLIN-DEPENDENT KINASE INHIBITOR 2A, CDKN2A
  Definition: p16 is an inhibitor of cyclin-dependent kinases. p16INK4 gene encodes a specific inhibitor of cyclin-dependent kinase 4 (CDK4). p16INK4a binds to cyclin D-CDK4 and promotes the inhibitory effects of RB.
  Since the CDK4/cyclin D complex propels a cell to go through the G1 check point of the cell cycle, a critical phase of cell division, alteration of the p16INK4 gene could lead a cell to uncontrolled (...)

• STK11
  29 October 2003

  XEEK1, LKB1
  Definition: STK11 (LKB1) is a serine-threonine protein kinase mutated in patients with an autosomal dominantly inherited cancer syndrome predisposing to multiple benign and malignant tumours, termed Peutz-Jeghers syndrome.
  LKB1 has been implicated as a regulator of multiple biological processes and signaling pathways, including the control of cell-cycle arrest, p53-mediated apoptosis, Wnt signaling, transforming growth factor (TGF)-beta signaling, ras-induced cell (...)

• BRCA1
  29 September 2003

  Wikipedia
  Definition: BRCA1 is a tumor suppressor that functions in controlling cell growth and maintaining genomic stability. The breast and ovarian cancer susceptibility gene BRCA1 encodes a zinc-finger protein of unknown function.
  BRCA1 is a tumour suppressor that has important roles in the protection against genomic instability.
  Cells lacking BRCA1 are hypersensitive to many DNA-damaging agents such as ultraviolet light and ionizing radiation, and show defects in both S- and (...)

• 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 (...)

• AKT1
  24 November 2004

  Proteine kinase B, PKB, PKB-alpha, Proteine kinase B-alpha

• PTEN
  25 July 2003

  Phosphatase and tensin homolog, MMAC1

• FLCN
  27 November 2004

  folliculin, FLCL

• PRDM2
  19 March 2006

  RIZ1

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