jeudi 27 décembre 2012

Mutated genes in cancer (84) – BRIP1 (FANCJ)

BRIP1 (alias FANCJ)

In databases :

Ensembl ( ENSG00000136492
UniProt ( Q9BX63
GeneCards ( FANCJ
HGNC ( 20473 or BRIP1

Gene locus:


Protein name:

BRCA1 interacting protein C-terminal helicase 1 (BRIP1) or Fanconi anemia, complementation group J (FANCJ)

Protein Size:

1249 amino acids; about 141 Da


The protein encoded by BRIP1 is DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. It acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination (see Fanconi Anemia genes). It is involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1

Cancer-related alterations:

Defects in BRIP1 are a cause of low-risk susceptibility to breast cancer.

Defects in BRIP1 are the cause of Fanconi anemia complementation group J (FANCJ) (see Fanconi Anemia genes)

References (open access):

Pathology of hereditary breast cancer. van der Groep P, van der Wall E, van Diest PJ. Cell Oncol (Dordr). 2011 Apr;34(2):71-88.

Targeting the FANCJ-BRCA1 interaction promotes a switch from recombination to poleta-dependent bypass. Xie J, Litman R, Wang S, Peng M, Guillemette S, Rooney T, Cantor SB. Oncogene. 2010 Apr 29;29(17):2499-508.

Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers. Rebbeck TR, Mitra N, Domchek SM, Wan F, Chuai S, Friebel TM, Panossian S, Spurdle A, Chenevix-Trench G; kConFab, Singer CF, Pfeiler G, Neuhausen SL, Lynch HT, Garber JE, Weitzel JN, Isaacs C, Couch F, Narod SA, Rubinstein WS, Tomlinson GE, Ganz PA, Olopade OI, Tung N, Blum JL, Greenberg R, Nathanson KL, Daly MB. Cancer Res. 2009 Jul 15;69(14):5801-10.

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