title: High frequency of BRCA1 5382insC mutation in Russian breast cancer patients.
abstract: BRCA1 5382insC variant was repeatedly detected in Jewish breast cancer (BC) families residing in USA and Israel as well as in non-Jewish familial BC patients from Poland, Latvia, Hungary, Russia and some other European countries. However, the distribution of BRCA1 5382insC mutation in unselected BC cases vs. controls has been systematically investigated mainly in Ashkenazi Jews. Here we applied a case-control study design in order to evaluate the impact of BRCA1 5382insC allele on BC incidence in St Petersburg, Russia. High frequency of the BRCA1 5382insC allele was detected in a group of bilateral breast cancer patients (10.4%; 15/144). Randomly selected unilateral BC cases demonstrated noticeable occurrence of BRCA1 5382insC mutation as well (3.7%; 32/857), with evident excess of the carriers in the early-onset (40 years) category (6.1%; 6/99) and in patients reporting breast and/or ovarian tumours in first-degree relatives (11.3%; 11/97). Strikingly, none of 478 middle-aged controls and 344 elderly tumour-free women carried the 5382insC variant. The presented data confirm a noticeable contribution of BRCA1 5382insC mutation in BC development in Russia, that may justify an extended BRCA1 5382insC testing within this population.
authors.affiliation: Molecular Oncology Department, N.N. Petrov Institute of Oncology, Pesochny-2, St.-Petersburg 197758, Russia.
authors.forename: Anna P
authors.initials: AP
authors.lastname: Sokolenko
authors.forename: Natalia V
authors.initials: NV
authors.lastname: Mitiushkina
authors.forename: Konstantin G
authors.initials: KG
authors.lastname: Buslov
authors.forename: Elena M
authors.initials: EM
authors.lastname: Bit-Sava
authors.forename: Aglaya G
authors.initials: AG
authors.lastname: Iyevleva
authors.forename: Elena V
authors.initials: EV
authors.lastname: Chekmariova
authors.forename: Ekatherina Sh
authors.initials: ESh
authors.lastname: Kuligina
authors.forename: Yulia M
authors.initials: YM
authors.lastname: Ulibina
authors.forename: Maxim E
authors.initials: ME
authors.lastname: Rozanov
authors.forename: Evgeny N
authors.initials: EN
authors.lastname: Suspitsin
authors.forename: Dmitry E
authors.initials: DE
authors.lastname: Matsko
authors.forename: Oleg L
authors.initials: OL
authors.lastname: Chagunava
authors.forename: Dmitry Yu
authors.initials: DY
authors.lastname: Trofimov
authors.forename: Peter
authors.initials: P
authors.lastname: Devilee
authors.forename: Cees
authors.initials: C
authors.lastname: Cornelisse
authors.forename: Alexandr V
authors.initials: AV
authors.lastname: Togo
authors.forename: Vladimir F
authors.initials: VF
authors.lastname: Semiglazov
authors.forename: Evgeny N
authors.initials: EN
authors.lastname: Imyanitov
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D005787:Gene Frequency; D019398:Genes, BRCA1; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D012426:Russia