title: [Search for frequently encountered mutations in genes predisposing to breast cancer].
abstract: DNA of oncological patients, including Ashkenazi Jews and Slavs, living in St. Petersburg was collected, and the resultant collection was screened for three common mutations of genes BRCA1 and BRCA2 by means of heteroduplex analysis. The mutation 5382insC in exon 20 of the BRCA1 gene was found in four unrelated patients, including three Slavs and one Ashkenazi Jew, with a positive family history of breast cancer. The mutations 185delAG and 6174delT in the BRCA1 and BRCA2 genes, respectively, which are typical of Ashkenazi Jewish patients with breast cancer, were not found in the patients of either ethnicity living in St. Petersburg, although the 6174delT mutation was found in the control group of Ashkenazi Jews. A new 12-nucleotide duplication g.71741ins12nt found in intron 20 of the BRCA1 gene was described. The high frequency of the 5382insC mutation in the BRCA1 gene in patients with familial breast cancer in both St. Petersburg and Moscow indicates that Russian families with the history of breast cancer should be primarily tested for this mutation.
authors.affiliation: Research Institute of Experimental Medicine, Russian Academy of Medical Sciences, St. Petersburg, 197376 Russia.
authors.forename: M Iu
authors.initials: MIu
authors.lastname: Mandel'shtam
authors.forename: V I
authors.initials: VI
authors.lastname: Golubkov
authors.forename: E P
authors.initials: EP
authors.lastname: Lamber
authors.forename: I M
authors.initials: IM
authors.lastname: Shapiro
authors.forename: T V
authors.initials: TV
authors.lastname: Brezhneva
authors.forename: V F
authors.initials: VF
authors.lastname: Semiglazov
authors.forename: B M
authors.initials: BM
authors.lastname: Lipovetskiĭ
authors.forename: K P
authors.initials: KP
authors.lastname: Hanson
authors.forename: V S
authors.initials: VS
authors.lastname: Gaĭtskhoki
mesh_terms: D024682:BRCA2 Protein / Q000235:genetics*; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D019398:Genes, BRCA1; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D024682:BRCA2 Protein; D017931:DNA Primers
vernacular_title: Poisk chasto vstrechaiushchikhsia mutatsiĭ v genakh predraspolozhennosti k raku molochnoĭ zhelezy.