zdorПроблемы здоровья и экологииHealth and Ecology Issues2220-09672708-6011Gomel State Medical University10.51523/2708-6011.2015-12-4-8zdor-1622Research ArticleКЛИНИЧЕСКАЯ МЕДИЦИНАCLINICAL MEDICINEВКЛАД ПОЛИМОРФНЫХ ВАРИАНТОВ P.P72R (TP53) И P.V353A (HMMR) В ГЕНЕЗ СПОРАДИЧЕСКИХ СЛУЧАЕВ РАКА МОЛОЧНОЙ ЖЕЛЕЗЫTHE CONTRIBUTION OF POLYMORPHIC VARIANTS P.P72R (TP53) AND P.V353A (HMMR) IN THE GENESIS OF SPORADIC BREAST CANCERКипеньВ. Н.KipenV. N.noemail@neicon.ruМельновС. Б.MelnovS. B.noemail@neicon.ruСмоляковаР. М.SmolyakovaR. M.noemail@neicon.ruМеждународный государственный экологический университет имени А. Д. СахароваInternational Sakharov Environmental UniversityРеспубликанский научно-практический центр онкологии и медицинской радиологии имени Н. Н. АлександроваScientific Research Institute of Oncology and Medical Radiology named after N. N. Alexandrov201528122015044046Copyright © Кипень В.Н., Мельнов С.Б., Смолякова Р.М., 20152015Кипень В.Н., Мельнов С.Б., Смолякова Р.М.Kipen V.N., Melnov S.B., Smolyakova R.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.gsmu.by/jour/article/view/1622

Цель: изучить вклад полиморфных вариантов p.P72R ( TP53 ) и p.V353A ( HMMR ) в генез спорадических форм рака молочной железы у пациентов из Республики Беларусь. Материалы и методы. В исследование были включены 169 пациентов со спорадической формой РМЖ, молекулярно-генетический анализ проводили с помощью ПДРФ-анализа и ПААГ-электрофореза. Результаты. Проведен анализ полиморфных вариантов p.72R ( TP53 , rs1042522) и p.V353A ( HMMR , rs299290) у пациентов с раком молочной железы из Республики Беларусь. Определены частоты распространенности генотипов и аллелей в группе пациентов с РМЖ и в группе сравнения, а также проведено сравнение полученных результатов с данными ESP Cohort Populations. Проанализирована связь результатов генотипирования с клинико-морфологическими характеристиками опухоли. Установлены статистически значимые различия (p = 0,029) между частотой распространенности генотипа CС ( TP53, p.R72P) и уровнем экспрессии Her-2/neu в группе пациентов с РМЖ. Генотип CT ( HMMR, p.V353A) ассоциирован с эстроген-отрицительными опухолями молочной железы (p = 0,016). Заключение . Полиморфные варианты p.72R ( TP53 , rs1042522) и p.V353A ( HMMR , rs299290) не оказывают существенного модифицирующего влияния на риск развития спорадических случаев рака молочной железы, но в то же время имеет место связь между наличием определенного генотипа и клинико-морфологическими характеристиками опухоли.

Aim: to study the contribution of TP53 and HMMR genes to the genesis of sporadic forms of breast cancer in patients from Belarus. Material and methods. The study included 169 patients with sporadic breast cancer, molecular genetic analysis was performed by RFLP analysis and PAGE electrophoresis. Results. The polymorphic variants p.72R ( TP53 , rs1042522) and p.V353A ( HMMR , rs299290) in patients with breast cancer from Belarus were analyzed. The frequencies of genotypes and alleles prevalence in patients with breast cancer (and in the comparison group) and compared the results with the data by ESP Cohort Populations. The relation of the results of genotyping to the clinical and morphological characteristics of the tumor was analyzed. The study revealed statistically significant differences (p = 0.029) between the frequency of the prevalence of the genotype CC ( TP53 , p.R72P) and the level of expression of the Her-2/neu in the patients with breast cancer. The genotype CT ( HMMR , p.V353A) is associated with estrogen-negative breast tumors (p = 0.016). Conclusion. The polymorphic variants p.72R ( TP53 , rs1042522) and p.V353A ( HMMR , rs299290) have no significant modifying effect on the risk of sporadic breast cancer, but at the same time, there is a link between the presence of a particular genotype and the clinical morphological characteristics of the tumor.

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The authors declare that there are no conflicts of interest present.