THE FREQUENCY OF POLYMORPHISMS OF THE GENE 5382insC BRCA1 IN PATIENTS WITH FAMILIAL BREAST CANCERS ARE EXPOSED TO IONIZING RADIATION AS A RESULT OF SEMIPALATINSK NUCLEAR TEST SITE AND THEIR DESCENDANTS
Genetic changes play an important role among the risk factors for breast cancer, but their mechanisms of and contribution to the development of the disease is not finalized.
Purpose of the study: determining the frequency of the BRCA1 gene polymorphism 5382insC in patients with familial breast cancers in the region radiological trouble Semipalatinsk nuclear test site in the first and second generations of irradiated.
Materials and methods: The study included 250 women aged 40 to 79 years, Kazakh nationality, including 190 breast cancer patients, distributed in groups. The first group included 60 patients with a family history, exposed to direct radiation and their descendants. The second group included 65 patients with a family history without radiological, in the third - 65 patients without a family history and radiological. Patients and women in the control group were assigned depending on the availability of direct irradiation (the first group) and age (older and younger than 50 years old) - in the other. Studied the frequency of BRCA1 gene polymorphism 5382insC. For statistical analysis of the frequency difference using one-sided Fisher's exact test. The boundary significance level to disprove the null hypothesis accepted p <0,05.
Results: The frequency of the studied polymorphism was higher in the total group of breast cancer patients with a family history of radioecological and where it was 20%, whereas in the absence of radiological history - 7.7%, family history and radiological - 6.2%, while in the control group - 3.3% (p = 0.038, p = 0.019, p = 0.004, respectively). The allocation to the directly irradiated and children, and by age, statistically significant differences were not obtained.
Conclusions:
There are differences in the frequency of the BRCA1 gene polymorphism 5382insC in women with breast cancer in indigenous population of East Kazakhstan, due to the presence of family history and radiological.
Registered significant excess frequency of this polymorphism in patients with the presence of family and radiological history of the control group and female patients with breast cancer with a family history without radiological and without family and radiological history, indicating that the leading role of the radiation factor in the accumulation of 5382insC BRCA1 gene mutations in the population.
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Апсаликов Б.А. Частота полиморфизма 5382insC гена BRCA1 у больных семейным раком молочной железы, подвергавшихся действию ионизирующего излучения в результате деятельности семипалатинского испытательного ядерного полигона и их потомков / / Наука и Здравоохранение. 2016. №3. С. 58-66. Аpsalykov B.А. The frequency of polymorphisms of the gene 5382insC BRCA1 in patients with familial breast cancers are exposed to ionizing radiation as a result of Semipalatinsk nuclear test site and their descendants. Nauka i Zdravookhranenie [Science & Healthcare]. 2016, 3, pp. 58-66. Апсаликов Б.А. Семей сынақ ядролық полигоннің иондауші саулелендіру әсерінің нәтижесінде отбасылық сүт безі обырымен ауратын науқастарда және олардың ұрпақтарында BRCA1 5382insC геннің полиморфизм жиілігі / / Ғылым және Денсаулық сақтау. 2016. №3. Б. 58-66.Related publications:
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