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FLASH GENE
Symbol BARD1 contributors: mct - updated : 01-02-2013
HGNC name BRCA1 associated RING domain 1
HGNC id 952
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral germinal mutation      
in breast and breast-ovarian cancers
tumoral   deletion    
homozygous deletion, in basal breast cancer
tumoral germinal mutation     loss of function
in patients with primary ovarian, fallopian tube, or peritoneal cancers
Susceptibility
  • to breast cancer
  • to neuroblastoma
  • Variant & Polymorphism SNP , other
  • Val/Met 507 increasing the risk of breast cancer
  • Cys557Ser confers a slightly increased risk of breast cancer in women
  • rs6435862, rs3768716 significantly associated with high-risk neuroblastoma
  • Candidate gene
  • identification of BARD1 deletion could have clinical applications including screening for hereditary forms of breast cancer
  • Marker
    Therapy target
    ANIMAL & CELL MODELS