title: [Prevalence of mutations BRCA1 5382insC, and CHEK2 1100delC in the population of Siberian region].
abstract: Frequencies of the 538insC mutation in the BRCA1 gene and the 1100delC mutation in the CHEK2 gene were compared in the group of breast cancer patients and the large-scale sample, consisting of 7920 DNA specimens from healthy residents of the city of Novosibirsk. Higher frequencies of these mutations in the patient group compared to the control sample (1.95 versus 0.25% for BRCA1 5382insC, and 1.78 versus 0.40% for CHEK2 1100delC) were observed, pointing to their association with susceptibility to breast cancer (OR = = 7.86, 95% CI 3.51-17.30 and OR =4.46, 95% C1 2.04-9.49, respectively).
authors.forename: O B
authors.initials: OB
authors.lastname: Chasovnikova
authors.forename: D V
authors.initials: DV
authors.lastname: Mitrofanov
authors.forename: M S
authors.initials: MS
authors.lastname: Anisimenko
authors.forename: M I
authors.initials: MI
authors.lastname: Voevoda
authors.forename: S P
authors.initials: SP
authors.lastname: Kovalenko
authors.forename: V V
authors.initials: VV
authors.lastname: Liakhovich
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D064447:Checkpoint Kinase 2; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D059645:Mutation Rate; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012307:Risk Factors; D012800:Siberia
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases