Kazan medical journalKazan medical journal0368-48142587-9359Eco-Vector2126610.17816/KMJ2020-342Research ArticleAnalysis of BRCA1 and BRCA2 genes mutations in breast cancer patients in an experimentSaрtarovaL MSaptarovaLiliana@yandex.ruCoginaE NSaptarovaLiliana@yandex.ruKhasanshinaL MSaptarovaLiliana@yandex.ruGalimovSh NSaptarovaLiliana@yandex.ruhttps://orcid.org/0000-0002-5871-5151Bashkir State Medical UniversityRepublican Clinical Dispensary of Oncology1306202010133423460303202013052020Copyright © 2020, Saрtarova L.M., Cogina E.N., Khasanshina L.M., Galimov S.N.2020<p><strong>Aim.</strong> To assess the presence of mutations based on the analysis of the prevalence of polymorphisms in the BRCA1 and BRCA2 genes in patients admitted to the Republican clinical Oncology dispensary of the Ministry of Health of the Republic of Bashkortostan with breast cancer.</p>
<p><strong>Methods.</strong> 137 patients with breast cancer aged 25 to 80 years underwent molecular genetic testing to detect BRCA1 and BRCA2 mutations by using allele-specific real-time polymerase chain reaction. Venous blood from 105 healthy donors was used as a control group.</p>
<p><strong>Results.</strong> The study of genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers revealed mutations in the genes BRCA1 185delAG, 4153delA, 5382insC, T300G and BRCA2-6174 del T, which help identify genetic susceptibility to breast cancer (NSCLC). The most common form of genetic variation in patients with breast cancer was 5382insC mutation in BRCA1 gene, which was 14.59% of the total number of examined patients and 90% of the total number of positive results. BRCA1 and BRCA2 genes mutations lead to producing truncated protein, which cannot properly perform its functions and ensure DNA cell stability.</p>
<p><strong>Conclusion.</strong> Considering high breast cancer risk in BRCA1 and BRCA2 genes mutations carriers, our results show the advisability of including screening for 5382insC, 4153delA and T300G mutations in the BRCA1 gene to the screening programs for determining the risk of breast cancer.</p>breast cancerdiagnosismutationsBRCA1 and BRCA2 genesрак молочной железыдиагностикамутациигены BRCA1 и BRCA2[Ahmad A. Pathways to breast cancer recurrence. ISRN Oncol. 2013; 2013: 1–16. DOI: 10.4236/ jct.2017.83025 847.][Vodolazhskiy D.I., Kutilin D.S., Mogushkova K.A., Kit O.I. Transcriptional profile of cancer-testicular antigens in patients with breast cancer. Medical Immunology (Russia). 2018; 20 (3): 383–390. (In Russ.) DOI: 10.15789/1563-0625-2018-3-383-390.][Lazerov A.F., Zadontseva N.S., Gofman A.A. Hereditary breast cancer. Rossiyskiy onkologicheskiy zhurnal. 2014; 19 (2): 40–46. (In Russ.)][Zlokachestvennye novoobrazovaniya v Rossii v 2017 godu (zabolevaemost' i smertnost'). (Malignant neoplasms in Russia in 2017 (morbidity and mortality).) Ed. by Kaprin A.D., Starinsky V.V., Petrova G.V. М.: Moscow Federal state budgetary institution “NMIC of radiology”. 2018; 10–25. (In Russ.)][Healthcare in Russia 2019. Statistical Digest. Ed. by The Russian Federal State Statistics Service (Rosstat). Moscow. 2019; 170. http://gks.ru/folder/210/document/13218 (access date: 18.02.2020). (In Russ.)][Gulyan I.S., Chernysheva N.Y., Stenkova A.M et al. Breast cancer: risk-associated mutations of the BRCA1 gene for screening primorye residents. Tikhookeanskiy meditsinskiy zhurnal. 2018; (1): 44–47. (In Russ.) DOI: 10.17238/PmJ1609-1175.2018.1.44-47.][Boichuk S.V., Ramazanov B.R. DNA repair system defects — role in oncogenesis and cancer therapy. Kazan medical journal. 2014; 95 (3): 307–314. (In Russ.) DOI: 10.17816/KMJ1503.][Imyanitov E.N. The biology of tumor growth. Prakticheskaya onkologiya. 2017; 18 (4): 307–315. (In Russ.) DOI: 10.31917/1804307.][Imyanitov E.N. Biology of breast cancer. Prakticheskaya onkologiya. 2017; 18 (3): 221–231. (In Russ.) DOI: 10.31917/1803221.][Timerbulatov V.M., Egorova N.N. Itogi deyatel'nosti Otdeleniya meditsinskikh nauk AN RB za 2014 god. (Results of the Department of medical Sciences of the Academy of Sciences of Republic of Bashkortostan for 2014.) Ufa: Academy of Sciences of Republic of Bashkortostan, Gilem. 2015; 4–30. (In Russ.)][Kechin A.A., Boyarskikh U.A., Ermolenko N.A. et al. Method for determining nucleotide sequences of exons of the BRCA1 and BRCA2 genes. Patent for invention №2612894. Issued at 13.03.2017. (In Russ.)][BRCA oncogenetics. Instructions for use. DNA-technology. 2017; 2–11. http://dna-technology.ru/files/images/broshura/BRCA.pdf (access date: 18.02.2020). (In Russ.)]