mercredi 13 février 2013

Mutated genes in cancer (86) –RAD51C (FANCO)

RAD51C (alias FANCO)

In databases :

Ensembl ( ENSG00000108384
UniProt ( O43502
GeneCards ( RAD51C
HGNC ( 9820 or RAD51C

Gene locus:


Protein name:

RAD51 homolog C (S. cerevisiae)

Protein Size:

376 amino acids; about 42 kDa


The product of RAD51C gene is essential for the homologous recombination (HR) pathway of DNA repair. It is involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by
DNA-damaging agents.

Cancer-related alterations:

Defects in RAD51C are the cause of breast-ovarian cancer familial type 3 (BROVCA3) [for BROVCA1, see BRCA1, for BROVCA2, see BRCA2]. It is a condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate.

Defects in RAD51C are the cause of Fanconi anemia complementation group O (FANCO). See Fanconi Anemia genes.

References (open access):

RAD51C: a novel cancer susceptibility gene is linked to Fanconi anemia and breast cancer. Somyajit K, Subramanya S, Nagaraju G. Carcinogenesis. 2010 Dec;31(12):2031-8.

RAD51C germline mutations in breast and ovarian cancer patients. Akbari MR, Tonin P, Foulkes WD, Ghadirian P, Tischkowitz M, Narod SA. Breast Cancer Res. 2010;12(4):404.

Cellular redistribution of Rad51 in response to DNA damage: novel role for Rad51C. Gildemeister OS, Sage JM, Knight KL. J Biol Chem. 2009 Nov 13;284(46):31945-52.

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