Cancer gene

Articles

• NBS1
  19 August 2004

  Pathology
  germline mutations in the Nijmegen breakage syndrome (NBS)
  increased cancer risk of heterozygotes with NBS1 germline mutations (#15185344#)
  See also
  FANC/BRCA1/BRCA2/ATM/NBS1 signaling pathway
  References
  Kobayashi J, Antoccia A, Tauchi H, Matsuura S, Komatsu K. NBS1 and its functional role in the DNA damage response. DNA Repair (Amst). 2004 Aug-Sep;3(8-9):855-61. PMID: (...)

• 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 (...)

• 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 (...)

• ATM
  28 October 2003

  ataxia-telangiectasia mutated

• MDM2
  29 October 2003

  mouse double minute 2 homolog, p53 binding protein, HDM2

• FUS
  14 October 2003

  TLS, translocated in liposarcoma

• ATF1
  14 October 2003

  ATF-1

• 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), (...)

• EWSR1
  15 November 2003

  EWS

• STK11
  29 October 2003

  XEEK1, LKB1
  Definition: STK11 (LKB1) is a serine-threonine protein kinase mutated in patients with an autosomal dominantly inherited cancer syndrome predisposing to multiple benign and malignant tumours, termed Peutz-Jeghers syndrome.
  LKB1 has been implicated as a regulator of multiple biological processes and signaling pathways, including the control of cell-cycle arrest, p53-mediated apoptosis, Wnt signaling, transforming growth factor (TGF)-beta signaling, ras-induced cell (...)

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