title: Spectrum of mutations in BRCA1 gene in hereditary forms of breast and ovarian cancer in Russian families.
abstract: The 5382insC mutation predominated (94%) in the spectrum of detected mutations of BRCA1 gene. High incidence of this mutation in familial breast cancer detected for the first time attested to origination of 5382insC mutation from the European part of Russia. The percentage of families with mutations in BRCA1 gene and familial predisposition to ovarian cancer was significantly higher than in hereditary predisposition to breast cancer (p<0.007). These data suggest that clinical manifestation of the mutation depends on genotypical factors other than the position of this mutation in BRCA1 gene. The results prompt screening for hereditary predisposition to these diseases.
authors.affiliation: Medical Genetics Research Center, Russian Academy of Medical Sciences, Moscow.
authors.forename: A N
authors.initials: AN
authors.lastname: Loginova
authors.forename: N I
authors.initials: NI
authors.lastname: Pospekhova
authors.forename: L N
authors.initials: LN
authors.lastname: Lyubchenko
authors.forename: A V
authors.initials: AV
authors.lastname: Budilov
authors.forename: V M
authors.initials: VM
authors.lastname: Zakhar'ev
authors.forename: R F
authors.initials: RF
authors.lastname: Gar'kavtseva
authors.forename: E K
authors.initials: EK
authors.lastname: Ginter
authors.forename: A V
authors.initials: AV
authors.lastname: Karpukhin
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D005192:Family Health; D005260:Female; D019398:Genes, BRCA1; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*
chemical_list: D019313:BRCA1 Protein