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FLASH GENE
Symbol BRIP1 contributors: mct - updated : 02-02-2014
HGNC name BRCA1 interacting protein C-terminal helicase 1
HGNC id 20473
ASSOCIATED DISORDERS
corresponding disease(s) FANCJ
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral somatic mutation      
in breast carcinoma (sporadic or not)
tumoral germinal mutation      
affecting the helicase domain activity identified in early onset breast cancer
constitutional       loss of function
BRIP1-deficient cells display increased sister chromatid exchange and sensitivity to replication stress
tumoral germinal mutation     loss of function
in patients with primary ovarian, fallopian tube, or peritoneal cancers
Susceptibility
  • moderate-risk alleles for breast cancer
  • to ovarian cancer
  • Variant & Polymorphism SNP
  • c.2040_2041insTT, in the BRIP1 (FANCJ) gene confers an increase in ovarian cancer risk
  • Candidate gene
  • unregulated function of BRIP1 could be associated with cancer and/or chemoresistance
  • Marker
    Therapy target
    ANIMAL & CELL MODELS