Cancer gene

Articles

• ETV6
  3 June 2004

  TEL (translocation ets leukemia)

• CDK5RAP2
  3 April 2005

  Pathology
  germline mutations in primary autosomal recessive microcephaly type 3 (MIM.604804)
  CDK5RAP2/PDGFRA fusion gene by ins(9;4)(q33;q12q25) in chronic eosinophilic leukemia (#16845659#)
  References
  Walz C, Curtis C, Schnittger S, Schultheis B, Metzgeroth G, Schoch C, Lengfelder E, Erben P, Muller MC, Haferlach T, Hochhaus A, Hehlmann R, Cross NC, Reiter A. Transient response to imatinib in a chronic eosinophilic leukemia associated with ins(9;4)(q33;q12q25) and a CDK5RAP2-PDGFRA (...)

• 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 (...)

• EWSR1
  15 November 2003

  EWS

• MDM2
  29 October 2003

  mouse double minute 2 homolog, p53 binding protein, HDM2

• PAX8
  5 July 2004

  PO
  Definition: PAX8 is a paired-box gene important in embryogenesis of the thyroid, Müllerian tract, and renal/upper urinary tracts.
  Images
  FNA of extraovarian primary peritoneal carcinoma metastatic to supraclavicular lymphnode ER+ PAX8+ https://twitter.com/pathologyfinder/status/768395560562876416
  Function
  Pax8 is a transcription factor associated with the embryonic development of the thyroid gland, kidney, and the Müllerian system and plays a role in the tumorigenesis of these (...)

• CHEK2
  26 September 2003

  CHK2 is an important multifunctional player in the DNA-damage response signalling pathway. Parallel studies of the human CHEK2 gene have also highlighted its role as a candidate multiorgan tumour susceptibility gene rather than a highly penetrant predisposition gene for Li-Fraumeni syndrome.
  The cell cycle checkpoint kinase CHEK2 is a protein kinase activated in response to DNA damage, is involved in cell cycle arrest. CHEK2 is the upstream regulator of p53 in the DNA-damage-signaling (...)

• CEBPA
  31 May 2004

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

• CRTC1
  8 May 2005

  TORC1, mucoepidermoid carcinoma-translocated 1, CRTC1; MECT1
  Pathology
  MAML2-CRTC1 gene fusion by t(11;19)(q21;p13) in
  mucoepidermoid carcinoma
  benign Warthin tumor
  cutaneous clear cell hidradenoma (#15729701#)
  The CRTC1-MAML2 translocation is identified in a large proportion of mucoepidermoid carcinomas (MEC) of the salivary gland and is an emerging favorable prognosticator.
  CRTC1-MAML2 translocation is highly specific for MEC and imparts a better prognosis. However, it is (...)

• DUX4
  30 January 2008

  Molecular biology
  CIC-DUX4 gen fusion in Ewing-like sarcoma
  Ewing-like sarcomas with t(4;19)(q35;q13)
  Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation.
  fusion gene between DUX4 at 4q35 (MIM.606009) and CIC at 19q35 by t(4;19)(q35;q13) (#16717057#)
  CIC, a human homolog of Drosophila capicua which encodes a high mobility group box transcription factor, is fused to a double homeodomain gene DUX4 as a result of a (...)

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