Cancer gene

Articles

• 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 (...)

• MLH1
  29 September 2003

  mismatch repair gene
  MLH is homologous to the E. coli MutL gene and is involved in DNA mismatch repair. Mutations in the MLH1 gene result in hereditary nonpolyposis colorectal cancer-2 (HNPCC2) (MIM.609310).
  Pathology
  Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer predisposition syndrome caused by inherited germ line mutations in DNA mismatch repair genes, predominantly MSH2 and MLH1.
  MLH1 loss of expression (...)

• 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 (...)

• MADH4
  8 December 2003

  Smad4, SMAD4 (SMA- and MAD-related protein 4), DPC4 (Deleted in Pancreatic Carcinoma 4)
  Definition: The tumor suppressor gene Smad4 (MADH4, DPC4) at chromosome 18q21.1 belongs to the Smad family, which mediates the TGFbeta signaling pathway suppressing epithelial cell growth. (MIM. 600993)
  SMAD4 (MADH4) encodes a component of the TGF-alpha growth-inhibitory signal transduction pathway. The tumor suppressor function of SMAD4 lies in its capacity to mediate the effects of transforming (...)

• PTEN
  25 July 2003

  Phosphatase and tensin homolog, MMAC1

• BCOR
  1 January 2011

  BCL6 corepressor; FLJ20285, KIAA1575
  The BCOR-CCNB3 fusion gene, resulting from a chromosome X paracentric inversion, was described in translocation-negative ’Ewing-like’ sarcomas arising in bone and soft tissue.
  Pathology
  BCOR-CCNB3 gene fusion in Ewing-like sarcoma . (#22387997#)
  CCNB3 immunohistochemistry is a powerful diagnostic marker for this subgroup of sarcoma and that overexpression of BCOR-CCNB3 or of truncated CCNB3 activates S phase in NIH3T3 cells.
  The intrachromosomal (...)

• AKT1
  24 November 2004

  Proteine kinase B, PKB, PKB-alpha, Proteine kinase B-alpha

• KRAS
  14 April 2004

  Ki-ras, KRAS2

• CXCR7
  17 May 2007

  RDC1, chemokine CXC motif receptor 7
  Pathology
  HMGA2/CXCR7 fusion gene in lipomas CXCR7 at 2q37 HMGA2 at 12q14
  CXCL12-CXCR7 axis contributes to the invasive phenotype of pancreatic cancer.
  (#27542220#)
  See also
  CXCRs (chemokine CXC motif receptors)
  References
  Broberg K, Zhang M, Strombeck B, Isaksson M, Nilsson M, Mertens F, Mandahl N, Panagopoulos I. Fusion of RDC1 with HMGA2 in lipomas as the result of chromosome aberrations involving 2q35-37 and 12q13-15. Int J Oncol. 2002 (...)

• ELF4
  17 May 2007

  ETSs superfamily
  Pathology
  ELF4 is fused to ERG in acute myeloid leukemia with a t(X;21)(q25-26;q22) (#16303180#)
  References
  Moore SD, Offor O, Ferry JA, Amrein PC, Morton CC, Dal Cin P. ELF4 is fused to ERG in a case of acute myeloid leukemia with a t(X;21)(q25-26;q22). Leuk Res. 2006 Aug;30(8):1037-42. PMID: #16303180#

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