Cancer gene

Articles

• ETV6
  3 June 2004

  TEL (translocation ets leukemia)

• PALB2
  23 February 2007

  Definition: PALB2 was identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and predispose to childhood malignancies.
  PALB2 co-localizes with BRCA2 (MIM.600185) in nuclear foci, promotes its localization and stability in nuclear structures, and enables its recombinational repair and checkpoint functions. PALB2 is a nuclear binding partner of BRCA2.
  Pathology
  Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and (...)

• EMS1
  31 January 2007

  cortactin,

• 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 (...)

• 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 (...)

• 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 (...)

• REL
  9 January 2007

  c-rel

• NCOA1
  4 February 2007

  NUCLEAR RECEPTOR COACTIVATOR 1; STEROID RECEPTOR COACTIVATOR 1; SRC1
  Pathology
  t(2;2)(q35;p23) creating a PAX3/NCOA1 fusion gene (PAX3 at 2q35 and NCOA1 at 2p23) in alveolar rhabdomyosarcoma (#15313887#) - NCOA1-PAX3 fusion gene by t(2;2)(q35;p23) (PAX3 at 2q35 and NCOA1 at 2p23) (#15313887#)
  Genetic alterations of SRC1 are rare in prostate cancer. The nuclear protein accumulation of SRC1 seems to be mildly increased in androgen ablation resistant prostate cancers (#16894533#) (...)

• AKT2
  2 February 2007

  Definition: AKT2 (MIM.164731) is the isoform of AKT 1 and is enriched in insulin-responsive tissues and has been implicated in the metabolic actions of the hormone.
  Pathology
  An activating mutation of AKT2 and human hypoglycemia. (#21979934#)
  AKT2 mutations and/or amplification in tumors ovarian carcinomas (#16839745#, #16721043#) pancreatic carcinomas (#14735903#) mammary carcinomas (#12032855#) embryonal rhabdomyosarcoma (#16790082#)
  See also
  AKTs
  References
  An activating (...)

• 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 (...)

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