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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 10/11/2006
Symbol BRCA1
Location 17q21.31
Name hereditary breast/ovarian cancer
Corresponding gene BRCA1
related resource Breastcancer
Other symbol(s) BCCR5
Main clinical features
  • predisposition to breast cancer and ovarian cancer, as well as prostate cancer
  • familial occurence, early onset, bilateral or multifocal tumors, male breast cancer are evocative of a cancer-predisposing mutation
  • risk of prostate cancer
  • Genetic determination autosomal dominant
    Prevalence cancer-predisposing BRCA1 mutation : between 1/500 and 1/1000.
    Related entries BRCA2, TSG17B, (OMIM : 114480)
    Function/system disorder endocrinology
    Type susceptibility factor
    Gene product
    Name breast cancer type 1 susceptibility protein
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function more than 300 different germline mutations, over 90p100 producing a premature stop codon and approximatively 60p100 unique to an individual family, with a significant proportion of large deletions and duplications resulting from Alu-mediated recombination
    Remark(s) multifactorial disorder caused by both non-genetic and genetic factors; founder mutations are observed in some ethnic groups.
    Genotype/Phenotype correlations
  • the risk of developping cancer is variable within families with the same mutation
  • In high-risk families, women who test negative for the familial BRCA1/BRCA2 mutation have an increased risk of breast cancer consistent with genetic modifiers
  • In light of this, such women should still be considered for continued surveillance