title: High incidence of mutations in BRCA1 and BRCA2 genes in ovarian cancer.
abstract: The incidence of mutations in the BRCA1 and BRCA2 genes in the studied sampling of 74 patients with ovarian cancer was 19%. The incidence of mutations in the Russian sampling of patients, formed without consideration for the family history, is one of the highest in European countries. Retrospective analysis showed that 9% patients carrying mutation had no family history of ovarian or breast cancer. The majority of mutations (86%) were detected in BRCA1 gene, where 5382insC mutation predominated (58%). These data suggest the possibility and advisability of screening for mutations in the BRCA1/2 genes in patients with ovarian cancer, particularly because this population includes patients without family history of ovarian and/or breast cancer.
authors.affiliation: Medical Genetic Research Center, Russian Academy of Medical Sciences, Moscow.
authors.forename: T Yu
authors.initials: TY
authors.lastname: Smirnova
authors.forename: N I
authors.initials: NI
authors.lastname: Pospekhova
authors.forename: L N
authors.initials: LN
authors.lastname: Lyubchenko
authors.forename: S A
authors.initials: SA
authors.lastname: Tjulandin
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: D005192:Family Health; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D015994:Incidence; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*; D012189:Retrospective Studies; D012426:Russia / Q000453:epidemiology