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FANCC Gene Amplification

MedGen UID:
1374604
•Concept ID:
C4329947
•
Cell or Molecular Dysfunction
Synonyms: FA3 Gene Amplification; FAC Gene Amplification; FACC Gene Amplification; Fanconi Anemia Complementation Group C Gene Amplification; Fanconi Anemia, Complementation Group C Gene Amplification

Definition

A molecular genetic abnormality indicating the presence of multiple copies of the FANCC gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFANCC Gene Amplification

Recent clinical studies

Etiology

Functional analysis of Fanconi anemia mutations in China.
Li N, Ding L, Li B, Wang J, D'Andrea AD, Chen J
Exp Hematol 2018 Oct;66:32-41.e8. Epub 2018 Jul 19 doi: 10.1016/j.exphem.2018.07.003. PMID: 30031030
Fanconi anemia gene editing by the CRISPR/Cas9 system.
Osborn MJ, Gabriel R, Webber BR, DeFeo AP, McElroy AN, Jarjour J, Starker CG, Wagner JE, Joung JK, Voytas DF, von Kalle C, Schmidt M, Blazar BR, Tolar J
Hum Gene Ther 2015 Feb;26(2):114-26. doi: 10.1089/hum.2014.111. PMID: 25545896Free PMC Article
A case report of Fanconi anemia diagnosed by genetic testing followed by prenatal diagnosis.
Lee HJ, Park S, Kang HJ, Jun JK, Lee JA, Lee DS, Park SS, Seong MW
Ann Lab Med 2012 Sep;32(5):380-4. Epub 2012 Aug 13 doi: 10.3343/alm.2012.32.5.380. PMID: 22950077Free PMC Article
Hypermethylation of the FANCC and FANCL promoter regions in sporadic acute leukaemia.
Hess CJ, Ameziane N, Schuurhuis GJ, Errami A, Denkers F, Kaspers GJ, Cloos J, Joenje H, Reinhardt D, Ossenkoppele GJ, Zwaan CM, Waisfisz Q
Cell Oncol 2008;30(4):299-306. doi: 10.3233/clo-2008-0426. PMID: 18607065Free PMC Article
Functional analysis of patient-derived mutations in the Fanconi anemia gene, FANCG/XRCC9.
Nakanishi K, Moran A, Hays T, Kuang Y, Fox E, Garneau D, Montes de Oca R, Grompe M, D'Andrea AD
Exp Hematol 2001 Jul;29(7):842-9. doi: 10.1016/s0301-472x(01)00663-4. PMID: 11438206

Diagnosis

Functional analysis of Fanconi anemia mutations in China.
Li N, Ding L, Li B, Wang J, D'Andrea AD, Chen J
Exp Hematol 2018 Oct;66:32-41.e8. Epub 2018 Jul 19 doi: 10.1016/j.exphem.2018.07.003. PMID: 30031030
A case report of Fanconi anemia diagnosed by genetic testing followed by prenatal diagnosis.
Lee HJ, Park S, Kang HJ, Jun JK, Lee JA, Lee DS, Park SS, Seong MW
Ann Lab Med 2012 Sep;32(5):380-4. Epub 2012 Aug 13 doi: 10.3343/alm.2012.32.5.380. PMID: 22950077Free PMC Article
Hypermethylation of the FANCC and FANCL promoter regions in sporadic acute leukaemia.
Hess CJ, Ameziane N, Schuurhuis GJ, Errami A, Denkers F, Kaspers GJ, Cloos J, Joenje H, Reinhardt D, Ossenkoppele GJ, Zwaan CM, Waisfisz Q
Cell Oncol 2008;30(4):299-306. doi: 10.3233/clo-2008-0426. PMID: 18607065Free PMC Article
Functional analysis of patient-derived mutations in the Fanconi anemia gene, FANCG/XRCC9.
Nakanishi K, Moran A, Hays T, Kuang Y, Fox E, Garneau D, Montes de Oca R, Grompe M, D'Andrea AD
Exp Hematol 2001 Jul;29(7):842-9. doi: 10.1016/s0301-472x(01)00663-4. PMID: 11438206
A functionally active retrovirus vector for gene therapy in Fanconi anemia group C.
Walsh CE, Grompe M, Vanin E, Buchwald M, Young NS, Nienhuis AW, Liu JM
Blood 1994 Jul 15;84(2):453-9. PMID: 7517716

Therapy

Hypermethylation of the FANCC and FANCL promoter regions in sporadic acute leukaemia.
Hess CJ, Ameziane N, Schuurhuis GJ, Errami A, Denkers F, Kaspers GJ, Cloos J, Joenje H, Reinhardt D, Ossenkoppele GJ, Zwaan CM, Waisfisz Q
Cell Oncol 2008;30(4):299-306. doi: 10.3233/clo-2008-0426. PMID: 18607065Free PMC Article

Prognosis

Fanconi anemia gene editing by the CRISPR/Cas9 system.
Osborn MJ, Gabriel R, Webber BR, DeFeo AP, McElroy AN, Jarjour J, Starker CG, Wagner JE, Joung JK, Voytas DF, von Kalle C, Schmidt M, Blazar BR, Tolar J
Hum Gene Ther 2015 Feb;26(2):114-26. doi: 10.1089/hum.2014.111. PMID: 25545896Free PMC Article

Clinical prediction guides

Fanconi anemia gene editing by the CRISPR/Cas9 system.
Osborn MJ, Gabriel R, Webber BR, DeFeo AP, McElroy AN, Jarjour J, Starker CG, Wagner JE, Joung JK, Voytas DF, von Kalle C, Schmidt M, Blazar BR, Tolar J
Hum Gene Ther 2015 Feb;26(2):114-26. doi: 10.1089/hum.2014.111. PMID: 25545896Free PMC Article

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