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BRCA1 and TP53 Gene-Mutations: Family Predisposition and Radioecological Risk of Developing Breast Cancer |
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| รหัสดีโอไอ | |
| Creator | 1. Bakytbek Apsalikov 2. Zukhra Manambaeva; Erlan Ospanov; Meruyert Massabayeva; Kuantkan Zhabagin; Zhanar Zhagiparova; Vladymir Maximov; Elena Voropaeva; Kazbek Apsalikov; Tatiana Belikhina; Ramil Abdrahmanov; Elena Cherepkova, Sayat Tanatarov, Adilzhan Massa |
| Title | BRCA1 and TP53 Gene-Mutations: Family Predisposition and Radioecological Risk of Developing Breast Cancer |
| Publisher | APJCP |
| Publication Year | 2559 |
| Journal Title | Asian Pacific Journal of Cancer Prevention |
| Journal Vol. | 17 |
| Journal No. | 8 |
| Page no. | 4059-4062 |
| Keyword | Breast cancer ; TP53 ; BRCA1 ; polymorphism ; radiation factor ; the Semipalatinsk test site |
| Abstract | Frequencies of polymorphisms of genes BRCA1 and __53 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 rst 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 __53 gene. The frequency of the polymorphism c.2311T>C was signi cantly 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 __53 was signi cantly higher in all groups of patients with breast cancer compared with the control group. Differences between groups of women with breast cancer were signi cant 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. |
