title: [Investigation of mutations of BRCA1 and BRCA2 genes in 52 breast cancer patients].
abstract: The proportion of BRCA1/2 genes varies widely among populations. We investigated 52 cases of breast cancer: 24 cases of familial breast cancer, 22--early-onset (till 40 years) and 6--bilateral cancer. The frequency of carriers of mutations among familial cancer cases was 16%, among cases of disease till 40 years--9%. 538insC BRCA1 was the most common genetic mutation among hereditary cases of breast cancer.
authors.affiliation: Research Institute of Oncology, Research Center, Russian Academy of Medical Sciences, Siberian Branch, Tomsk, Russia.
authors.forename: I V
authors.initials: IV
authors.lastname: Tereshchenko
authors.forename: V M
authors.initials: VM
authors.lastname: Béshém
authors.forename: E M
authors.initials: EM
authors.lastname: Slonimskaia
authors.forename: B A
authors.initials: BA
authors.lastname: Ponder
authors.forename: P D
authors.initials: PD
authors.lastname: Férokh
authors.forename: S A
authors.initials: SA
authors.lastname: Velichko
authors.forename: R A
authors.initials: RA
authors.lastname: Shagiakhmetova
mesh_terms: D000328:Adult; D017668:Age of Onset; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D009154:Mutation; D010375:Pedigree