Cancer gene

Articles

• CABLES1
  5 June 2007

  CDK5 and ABL enzyme substrate 1

• MAP3K5
  28 June 2004

  ASK1

• FOXO3A
  7 October 2005

  FKHRL1, AF6q21

• BCL2
  29 October 2003

  MIM.151430 HGNC:990 WP PO
  Definition: BCL2 is a proto-oncogene located at 18q21 that promotes B-cell survival via inhibition of apoptosis and confers chemotherapy resistance. BCL2 encodes 25 kDa protein, mainly localized to inner mitochondrial membrane; also endoplasmic reticulum and nuclear envelope.
  Pathology
  IGH/BCL2 reaerangement by t(14;18)(q32;q21) in follicular B-cell lymphoma (70-80% of cases) (14q32 and 18q21). BCL2 deregulation is most commonly associated with the t(14;18), (...)

• MGEA5
  13 January

  |WKP|
  Definition: Bifunctional protein NCOAT is a protein that in humans is encoded by the MGEA5 gene.
  Pathology
  Consistent t(1;10) with rearrangements of TGFBR3 and MGEA5 in : myxoinflammatory fibroblastic sarcoma (#21717526#) hemosiderotic fibrolipomatous tumor (#21717526#) PHAT pleomorphic hyalinizing angiectatic tumor
  Open References
  Consistent t(1;10) with rearrangements of TGFBR3 and MGEA5 in both myxoinflammatory fibroblastic sarcoma and hemosiderotic fibrolipomatous (...)

• FOXL2
  18 June 2008

  Definition: FOXL2 encodes a forkhead transcription factor. The protein FOXL2 contains a fork-head DNA-binding domain and may play a role in ovarian development and function.
  Mutations in FOXL2 are a cause of blepharophimosis syndrome (BPES) and premature ovarian failure type 3 (MIM.608996).
  Functions
  FOXL2 represses the transcription of aromatase, cholesterol side-chain cleavage enzyme P450scc and cyclin D2 in granulosa cells.
  FoxL2 plays a key role in activin induction of the FSHbeta (...)

• 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 (...)

• CIC
  30 January 2008

  Protein capicua homolog CIC
  Definition: 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 recurrent chromosomal translocation t(4;19)(q35;q13).
  Molecular biology
  CIC-DUX4 fusion gene between DUX4 at 4q35 (MIM.606009) and CIC at 19q35 by t(4;19)(q35;q13) (#16717057#) in Ewing-like sarcoma
  CIC-rearranged undifferentiated round-cell sarcoma with exclusive spindled (...)

• 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 (...)

• TFPT
  26 June 2007

  TCF3 fusion partner

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