Cancer gene

Articles

• TFE3
  1 December 2003

  TFE3, a member of the helix-loop-helix family of transcription factors, binds to the mu-E3 motif of the immunoglobulin heavy-chain enhancer and is expressed in many cell types.
  Pathology
  TFE3-ASPL gene fusion by t(X;17)(p11;q25) in
  juvenile renal cell carcinoma
  alveolar soft part sarcoma (#12769020#)
  Fusion SFPQ/TFE3 gene in papillary renal cell carcinoma (#9393982#)
  A distinctive subset of PEComas harbors TFE3 gene fusions (#20871214#)
  Perivascular Epithelioid Cell Tumor With (...)

• NKX3A
  31 January 2007

  NKX3-1
  Definition: The homeodomain-containing transcription factor NKX3A is a putative prostate tumor suppressor that is expressed in a largely prostate-specific and androgen-regulated manner.
  NKX3.1 is a prostatic tumor suppressor gene located on chromosome 8p.
  Although most studies have shown that staining for NKX3.1 protein is positive in the majority of primary prostatic adenocarcinomas, it has been shown to be downregulated in many high-grade prostate cancers, and completely lost in (...)

• TP53
  30 September 2003

  P53, p53
  Definition: p53 is a nuclear phospho-protein which, in response to DNA damage, slows progression through the cell cycle and initiates apoptosis if damage is severe. The tumor suppressor gene TP53 is altered in the majority of cancers.
  p53 is required for the G1/S checkpoint and is a main component of the G2/M checkpoint. The p53 protein causes cell-cycle arrest and apoptosis. It acts mainly through p21 to cause cell-cycle arrest.
  It causes apoptosis by inducing the transcription (...)

• CD44
  17 June 2003

  Definition: CD44 is a well characterized cellular adhesion molecule involved in several human malignancies. It is encoded by a gene located at 11p12-13.
  Functions
  CD44 binds hyaluronan. Mucin-like glycoproteins, such as heparan sulfate, serve as ligands for the leukocyte adhesion molecule called CD44. These glycoproteins are found in the extracellular matrix and on cell surfaces.
  CD44 is expressed by lymphoid cells, and is involved in the extravasation of lymphoid cells, it does not (...)

• CEBPA
  31 May 2004

  C/EBPalpha, CCAAT/enhancer-binding protein-alpha

• PIK3CA
  9 September 2004

  Definition: PI3K subunit p110alpha (PIK3CA) is a subunit of PI3Ks. The phosphatidylinositol 3-kinases (PI3Ks) are known regulators of cellular growth and proliferation.
  Phosphoinositide-3-kinase catalytic alpha polypeptide (PIK3CA) encodes the p110α subunit of the mitogenic signaling protein phosphoinositide 3-kinase (PI3K).
  PIK3CA mutations in the helical binding domain and the catalytic subunit of the protein have been associated with tumorigenesis and treatment resistance in various (...)

• MDM2
  29 October 2003

  mouse double minute 2 homolog, p53 binding protein, HDM2

• NEAT1
  20 August

  Microphthalmia-associated transcription factor (MiT) family translocation renal cell carcinoma harbors variable gene fusions involving either TFE3 or TFEB genes.
  Multiple 5’ fusion partners for TFE3 have been reported, including ASPSCR1, CLTC, DVL2, LUC7L3, KHSRP, PRCC, PARP14, NONO, SFPQ1, MED15, RBM10, KAT6A and NEAT1. Each of these fusion genes activates TFE3 transcription which can be detected by immunostaining.
  Open references
  NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas, new (...)

• WWOX
  27 February 2007

  Common fragile site gene WWOX encodes a candidate tumor suppressor WW domain-containing oxidoreductase.
  Alteration of this gene, along with dramatic downregulation of WWOX protein, is shown in the majority of invasive cancer cells.
  Ectopic WWOX exhibits proapoptotic and tumor inhibitory functions in vitro and in vivo, probably interacting with growth regulatory proteins p53, p73 and others.
  Hyaluronidases regulate WWOX expression, increase cancer invasiveness and seem to be involved in (...)

• 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 (...)

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