Cancer gene

Articles

• HMGA2
  27 October 2004

  HMGI-C, HMGI-C

• 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 (...)

• 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 (...)

• ATM
  28 October 2003

  ataxia-telangiectasia mutated

• BRCA2
  29 September 2003

  BRCA1 and BRCA2 contribute to homologous recombination and DNA repair, to embryonic proliferation, to transcriptional regulation and, for BRCA1, to ubiquitination.
  Pathology
  germline mutationso of BRCA2 in
  high risks of breast and ovarian cancer
  Fanconi syncrome (Fanconi anemia - FA)
  somatic mutations of BRCA2 in
  medulloblastoma
  References
  Rudkin TM, Foulkes WD. BRCA2: breaks, mistakes and failed separations. Trends Mol Med. 2005 Apr;11(4):145-8. PMID: #15823750# (...)

• 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 (...)

• PTEN
  25 July 2003

  Phosphatase and tensin homolog, MMAC1

• LRP1B
  30 December 2011

  Pathology
  LRP1B missense and nonsense somatic mutations are frequently found in melanoma.
  References
  Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. Nikolaev SI, Rimoldi D, Iseli C, Valsesia A, Robyr D, Gehrig C, Harshman K, Guipponi M, Bukach O, Zoete V, Michielin O, Muehlethaler K, Speiser D, Beckmann JS, Xenarios I, Halazonetis TD, Jongeneel CV, Stevenson BJ, Antonarakis SE. Nat Genet. 2011 Dec 25. PMID: (...)

• MAP2K2
  30 December 2011

  Pathology
  Recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. (#22197931#) Melanoma revealed the presence of recurring somatic MAP2K1 and MAP2K2 mutations, which occurred at an overall frequency of 8%. Furthermore, missense and nonsense somatic mutations were frequently found in three candidate melanoma genes, FAT4, LRP1B and DSC1.
  See also
  MAP3Ks
  References
  Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. Nikolaev SI, Rimoldi D, Iseli (...)

• PLZF
  30 December 2011

  References
  Acute promyelocytic leukemia associated with the PLZF-RARA fusion gene: two additional cases with clinical and laboratorial peculiar presentations. Rohr SS, Pelloso LA, Borgo A, De Nadai LC, Yamamoto M, Rego EM, de Lourdes L F Chauffaille M. Med Oncol. 2011 Dec 29. PMID: #22205181#

0 | 10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | ... | 140