Cancer gene

Articles

• ALK
  19 June 2003

  Locus: 2p23. AGCOH OMIM
  Cytogenetics
  t(2;17)(p23;q23)
  Pathology
  ALK rearrangements - ALK fusion
  Chromosomal rearrangements involving the anaplastic lymphoma kinase gene (ALK) at 2p23 result in fusion with various partner genes leading to aberrant production of oncogenic protein products in multiple tumor types.
  In tumorigenesis, the ALK gene at 2p23 is known to be fused to NPM, TPM3, TPM4, TFG, ATIC, CLTC, MSN, and ALO17.
  ALK-ATIC by inv(2)(p23q35) in IMF (#12939746#) (...)

• FHIT
  5 March 2006

  Pathology
  The constitutional translocation t(3;8)(p14.2;q24.1) fuses FHIT at 3p14 with the patched-related gene TRC8 at 8q24.1 (#9689122#) with formation of the TRC8/FHIT fusion gene). It predisposes to
  hereditary renal clear cell carcinoma (#17539022#)
  hereditary renal clear cell carcinoma and non-medullary thyroid cancer (#470981#, #12522559#, #17539022#)
  TRC8 hereditary kidney cancer gene suppresses growth and functions with VHL in a common pathway (#12032852#)
  References (...)

• KIT
  12 December 2003

  c-kit; CD117
  Definition: The proto-oncogene c-kit / CC117 is a receptor tyrosine kinase recognized to initiate essential signal transduction pathways that transmit biological signals for cellular proliferation, differentiation, and metastasis. Aberrant expression or mutation of c-kit has been shown to be involved in the pathogenesis of many cancers. See also CD117 IHCDB
  Expression in cells
  c-KIT positive spermatogonia
  Expression in tumors (Exemples)
  chromophobe renal cell (...)

• PDGFRA
  12 December 2003

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

• 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 (...)

• NOTCH1
  11 June 2003

  Notch1

• FOXO1
  2 February 2007

  FKHR, FOXOA1
  Pathology
  PAX3-FOXO1 or PAX7-FOXO1 fusion genes in alveolar rhabdomyosarcoma
  Alveolar rhabdomyosarcoma (ARMS) is an aggressive neoplasm with unique t(2;13)(q35;q14) or t(1;13)(p36;q14) chromosomal translocations, resulting in PAX3/FOXO1 and PAX7/FOXO1 fusion genes, in approximately 80% of cases.
  These translocations and their gene fusions have not been identified in other neoplasms, making their identification an attractive target for applying ancillary diagnostic (...)

• 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 (...)

• DDIT3
  3 June 2004

  CHOP

• MLL
  19 April 2004

  TRX1, humona homolog of drosophila trithorax
  The MLL gene is homologous to Drosophila trithorax and is likewise involved in embryo pattern formation. The MLL gene encodes a DNA-binding protein that methylates histone H3 lysine 4 (H3K4), and positively regulates gene expression including multiple Hox genes.
  Pathology
  MLL-associated leukemias Translocations that involve the mixed lineage leukaemia (MLL) gene identify a unique group of acute leukaemias, and often predict a poor prognosis. (...)

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