HMGI-C, HMGI-C
Home > Keywords > Proteins > Cancer gene
Cancer gene
Articles
-
HMGA2
27 October 2004 -
AKT2
2 February 2007Definition: 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 2003CHK2 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 2003ataxia-telangiectasia mutated
-
BRCA2
29 September 2003BRCA1 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 2007FKHR, 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 2003Phosphatase and tensin homolog, MMAC1
-
LRP1B
30 December 2011Pathology
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 2011Pathology
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 2011References
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#