title: BRCA1 and TP53 Gene-Mutations: Family Predisposition and Radioecological Risk of Developing Breast Cancer.
abstract: Frequencies of polymorphisms of genes BRCA1 and TP53 in breast cancer (BC) patients with a BC family history and radiation history were assessed and compared in the Semey region of Kazakhstan. The study included 60 women directly irradiated by the activities of the Semipalatinsk test site with a calculated effective equivalent dose of 500 mSv and their first generation descendants (group BC+Her+Exp); 65 women with family BC and absence of radiological history - the effective equivalent dose due to anthropogenic sources not exceeding 50 mSv (group BC+Her-Exp). The comparison group consisted of 65 women patients with breast cancer without family and radiological history (BC-Her-Exp). The control group comprised 60 women without breast cancer and without family and radiological history (nonBC). We carried out the genotyping of the polymorphisms c.2311T>C, c.4308T>C and 5382insC of the BRCA1 gene and rs1042522 of the TP53 gene. The frequency of the polymorphism c.2311T>C was significantly higher in patients of the group BC+Her+Exp than in healthy women, and of the polymorphism 5382insC in BC+Her+Exp compared to all other groups. The frequency of the rs1042522 polymorphism of TP53 was significantly higher in all groups of patients with breast cancer compared with the control group. Differences between groups of women with breast cancer were significant only in BC+Her+Exp vs. BC+Her-Exp. Combinations of polymorphisms of the genes BRCA1 and TP53 predominated in women with a family and radiological history.
authors.affiliation: State Medical University of Semey, Semey, Republic of Kazakhstan E-mail : baxa_doc@mail.ru.
authors.forename: Bakytbek
authors.initials: B
authors.lastname: Apsalikov
authors.forename: Zukhra
authors.initials: Z
authors.lastname: Manambaeva
authors.forename: Erlan
authors.initials: E
authors.lastname: Ospanov
authors.forename: Meruyert
authors.initials: M
authors.lastname: Massabayeva
authors.forename: Kuantkan
authors.initials: K
authors.lastname: Zhabagin
authors.forename: Zhanar
authors.initials: Z
authors.lastname: Zhagiparova
authors.forename: Vladymir
authors.initials: V
authors.lastname: Maximov
authors.forename: Elena
authors.initials: E
authors.lastname: Voropaeva
authors.forename: Kazbek
authors.initials: K
authors.lastname: Apsalikov
authors.forename: Tatiana
authors.initials: T
authors.lastname: Belikhina
authors.forename: Ramil
authors.initials: R
authors.lastname: Abdrahmanov
authors.forename: Elena
authors.initials: E
authors.lastname: Cherepkova
authors.forename: Sayat
authors.initials: S
authors.lastname: Tanatarov
authors.forename: Adilzhan
authors.initials: A
authors.lastname: Massadykov
authors.forename: Naylia
authors.initials: N
authors.lastname: Urazalina
mesh_terms: D000328:Adult; D000368:Aged; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007623:Kazakhstan; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D012306:Risk; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D019313:BRCA1 Protein; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53