<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.3 20210610//EN" "JATS-journalpublishing1-3.dtd">
<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">medgen</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская генетика</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Genetics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7998</issn><publisher><publisher-name>Publishing House «Genius Media» LLC</publisher-name></publisher></journal-meta><article-meta><article-id custom-type="elpub" pub-id-type="custom">medgen-305</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>ORIGINAL RESEARCH</subject></subj-group></article-categories><title-group><article-title>Молекулярно-гистологическая характеристика опухолей молочной железы у женщин из кыргызской популяции - вклад генов TP53, XRCC1 и MDM2</article-title><trans-title-group xml:lang="en"><trans-title>Molecular histological characteristics of breast tumors for women from the Kyrgyz population - the contribution of the genes TP53, XRCC1 and MDM2</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Исакова</surname><given-names>Ж. Т.</given-names></name><name name-style="western" xml:lang="en"><surname>Isakova</surname><given-names>Zh. T.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Кипень</surname><given-names>В. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Kipen</surname><given-names>V. N.</given-names></name></name-alternatives><email xlink:type="simple">slavakipen@rambler.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Семетей</surname><given-names>Кызы Айгул</given-names></name><name name-style="western" xml:lang="en"><surname>Semetei</surname><given-names>Kyzy Aigul</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Талайбекова</surname><given-names>Э. Т.</given-names></name><name name-style="western" xml:lang="en"><surname>Talaibekova</surname><given-names>E. T.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Макимбетов</surname><given-names>Э. К.</given-names></name><name name-style="western" xml:lang="en"><surname>Makimbetov</surname><given-names>E. K.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Алдашева</surname><given-names>Н. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Aldasheva</surname><given-names>N. M.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-4"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>НИИ Молекулярной биологии и медицины</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Institute of Molecular Biology and Medicine</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ГУ «Научно-практический центр Государственного комитета судебных экспертиз Республики Беларусь»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Scientific and Practical Centre of the State Committee of Forensic Expertises</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>Кыргызско-Российский Славянский университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Kyrgyz-Russian Slavic University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>НИИ Молекулярной биологии и медицины; Кыргызско-Российский Славянский университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Institute of Molecular Biology and Medicine; Kyrgyz-Russian Slavic University</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2017</year></pub-date><pub-date pub-type="epub"><day>20</day><month>02</month><year>2018</year></pub-date><volume>16</volume><issue>6</issue><fpage>36</fpage><lpage>42</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Исакова Ж.Т., Кипень В.Н., Семетей К.А., Талайбекова Э.Т., Макимбетов Э.К., Алдашева Н.М., 2018</copyright-statement><copyright-year>2018</copyright-year><copyright-holder xml:lang="ru">Исакова Ж.Т., Кипень В.Н., Семетей К.А., Талайбекова Э.Т., Макимбетов Э.К., Алдашева Н.М.</copyright-holder><copyright-holder xml:lang="en">Isakova Z.T., Kipen V.N., Semetei K.A., Talaibekova E.T., Makimbetov E.K., Aldasheva N.M.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.medgen-journal.ru/jour/article/view/305">https://www.medgen-journal.ru/jour/article/view/305</self-uri><abstract><p>В исследовании приняли участие 100 женщин кыргызской этнической группы с морфологически верифицированным диагнозом рак молочной железы (РМЖ), получившие стационарное лечение в Национальном онкологическом центре Бишкека (Кыргызская Республика) в период 2013-2015 гг. Средний возраст пациентов с РМЖ составил 47,6 ± 10,0 лет (возрастной интервал - 23,5-74,1 года). Генотипирование однонуклеотидных полиморфизмов (ОНП) p.Q399R ( XRCC1 ), p.R194W ( XRCC1 ), p.P72R ( TP53 ) и c.309T&gt;G ( MDM2 ) осуществлялось методом ПЦР-ПДРФ. При сравнении результатов анализа генотипирования и клинико-морфологической характеристики опухолевого узла в исследуемых подгруппах использовали точный критерий Фишера. Для сравнения количественных данных после проверки на гомоскедастичность и нормальность распределения использовали метод дисперсионного анализа ANOVA. Показано, что для ОНП p.P72R ( TP53 ) и p.R194W ( XRCC1 ) имеется статистически значимая ассоциация с возрастом верификации диагноза РМЖ. У 78,0% (71/91) пациентов с генотипами CG/GG по ОНП p.P72R ( TP53 ) диагноз был поставлен до 55 лет, у 55,6% (5/9) пациентов с генотипом CC - после 55 лет (p = 0,041). Для полиморфизма p.R194W ( XRCC1 ) была показана статистически значимая ассоциация с возрастом верификации диагноза РМЖ: для пациентов с генотипом CC рассчитанные значения составили 46,12 ± 10,21 года, у пациентов с генотипами TT/CT - 50,98 ± 8,70 года, р = 0,024. В то же время, многофакторный дисперсионный анализ не выявил зависимости между возрастом верификации диагноза РМЖ и данными генотипирования по ОНП p.Q399R ( XRCC1 ), p.R194W ( XRCC1 ), p.P72R ( TP53 ) и c.309T&gt;G ( MDM2 ). Также не выявлено статистически значимых различий между результатами генотипирования и гистологическим типом опухоли, значениями TNM-классификации и степенью дифференцировки опухоли.</p></abstract><trans-abstract xml:lang="en"><p>The study included 100 women of the Kyrgyz ethnic group with the morphologically verified diagnosis of breast cancer (BC) from National cancer center of Bishkek (Kyrgyz Republic) in the period 2013-2015 years. The average age of patients with breast cancer was 47,6 ± 10,0 years (age interval is 23,5-74,1 years). Genotyping of single-nucleotide polymorphisms (SNPs) p.Q399R ( XRCC1 ), p.R194W ( XRCC1 ), p.P72R ( TP53 ) and c.309T&gt;G ( MDM2 ) was performed using PCR-RFLP. Comparison of results of the analysis of genotyping and morphological characteristics of a tumor node in the examined subgroups used the Fisher’s exact test. For comparison of quantitative data after checking for homoscedasticity and the normality of distribution using the method of variance analysis ANOVA. Statistical data processing was performed using Microsoft Excel (Microsoft Corporation, USA) and SPSS v.20.0 (IBM, USA). For SNPs p.P72R ( TP53 ) and p.R194W ( XRCC1 ) there are a statistically significant association with age verification of diagnosis of breast cancer. For 78,0% (71/91) of the patients with genotype CG/GG for SNP p.P72R ( TP53 ) was diagnosed to 55 years, for 55,6% (5/9) of the patients with genotype CC was diagnosed after 55 years, p = 0,041. For the polymorphism p.R194W ( XRCC1 ) were shown statistically significant association with age verification of diagnosis of breast cancer: for patients with genotype CC of the calculated value made up of 46,12 ± 10,21 years, for patients with genotypes TT/CT - of 50,98 ± 8,70, p = 0,024. At the same time, multivariate analysis of variance no showed relationship between age verification of breast cancer diagnosis and genotyping data at the SNPs p.Q399R ( XRCC1 ), p.R194W ( XRCC1 ), p.P72R ( TP53 ) and c.309T&gt;G ( MDM2 ). Also revealed no statistically significant differences between the results of genotyping and histological type of the tumor, the values of the TNM-classification and the degree of differentiation of the tumor.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>рак молочной железы</kwd><kwd>ген</kwd><kwd>XRCC1</kwd><kwd>TP53</kwd><kwd>MDM2</kwd><kwd>ПЦР-ПДРФ</kwd><kwd>полиморфизм</kwd><kwd>кыргызская популяция</kwd><kwd>breast cancer</kwd><kwd>gene</kwd><kwd>XRCC1</kwd><kwd>TP53</kwd><kwd>MDM2</kwd><kwd>PCR-RFLP</kwd><kwd>polymorphism</kwd><kwd>kyrgyz population</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Dizdaroglu M. Oxidatively induced DNA damage and its repair in cancer. Mutation Research - Reviews. 2015 Jan-Mar;763:212-45.</mixed-citation><mixed-citation xml:lang="en">Dizdaroglu M. Oxidatively induced DNA damage and its repair in cancer. Mutation Research - Reviews. 2015 Jan-Mar;763:212-45.</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Panda PK, Mukhopadhyay S, Das DN,et al. Mechanism of autophagic regulation in carcinogenesis and cancer therapeutics. Semin Cell Dev Biol. 2015 Mar;39:43-55.</mixed-citation><mixed-citation xml:lang="en">Panda PK, Mukhopadhyay S, Das DN,et al. Mechanism of autophagic regulation in carcinogenesis and cancer therapeutics. Semin Cell Dev Biol. 2015 Mar;39:43-55.</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Roberts MR, Shields PG, Ambrosone CB, et al. Single-nucleotide polymorphisms in DNA repair genes and association with breast cancer risk in the web study. Carcinogenesis. 2011 Aug;32(8):1223-30.</mixed-citation><mixed-citation xml:lang="en">Roberts MR, Shields PG, Ambrosone CB, et al. Single-nucleotide polymorphisms in DNA repair genes and association with breast cancer risk in the web study. Carcinogenesis. 2011 Aug;32(8):1223-30.</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Travis RC, Reeves GK, Green J, et al. Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study. Lancet. 2010 Jun 19;375(9732):2143-51.</mixed-citation><mixed-citation xml:lang="en">Travis RC, Reeves GK, Green J, et al. Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study. Lancet. 2010 Jun 19;375(9732):2143-51.</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Абдылдаев ДК. Клиническое руководство по клиническому обследованию молочной железы для медицинских специалистов первичного уровня здравоохранения, принятого Экспертным советом по оценке качества клинических руководств/протоколов. Утверждено Приказом МЗ КО 34348 от 6 сентября 2010 г., Бишкек, 2010.</mixed-citation><mixed-citation xml:lang="en">Абдылдаев ДК. Клиническое руководство по клиническому обследованию молочной железы для медицинских специалистов первичного уровня здравоохранения, принятого Экспертным советом по оценке качества клинических руководств/протоколов. Утверждено Приказом МЗ КО 34348 от 6 сентября 2010 г., Бишкек, 2010.</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Sanjari Moghaddam A, Nazarzadeh M, Bidel Z, et al. XRCC1 Gene Polymorphisms and Breast Cancer Risk: A Systematic Review and Meta- Analysis Study. Asian Pac J Cancer Prev. 2016;17 Spec No.:323-30.</mixed-citation><mixed-citation xml:lang="en">Sanjari Moghaddam A, Nazarzadeh M, Bidel Z, et al. XRCC1 Gene Polymorphisms and Breast Cancer Risk: A Systematic Review and Meta- Analysis Study. Asian Pac J Cancer Prev. 2016;17 Spec No.:323-30.</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Исакова ЖТ, Талайбекова ЭТ, Макиева КБ, и др. Ассоциация полиморфных маркеров Arg399Gln гена XRCC1, Arg72Pro гена TP53 и T309G гена MDM2 с раком молочной железы у женщин кыргызской популяции. Российский онкологический журнал. 2016. Т. 21. № 3. С. 131-135.</mixed-citation><mixed-citation xml:lang="en">Исакова ЖТ, Талайбекова ЭТ, Макиева КБ, и др. Ассоциация полиморфных маркеров Arg399Gln гена XRCC1, Arg72Pro гена TP53 и T309G гена MDM2 с раком молочной железы у женщин кыргызской популяции. Российский онкологический журнал. 2016. Т. 21. № 3. С. 131-135.</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">Demokan S, Demir D, Suoglu Y, et al. Polymorphisms of the XRCC1 DNA repair gene in head and neck cancer. Pathol Oncol Res. 2005;11(1):22-5.</mixed-citation><mixed-citation xml:lang="en">Demokan S, Demir D, Suoglu Y, et al. Polymorphisms of the XRCC1 DNA repair gene in head and neck cancer. Pathol Oncol Res. 2005;11(1):22-5.</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">Upton GJG, Fisher’s exact test //Journal of the Royal Statistical Society. Series A (Statistics in Society). 1992. P. 395-402;</mixed-citation><mixed-citation xml:lang="en">Upton GJG, Fisher’s exact test //Journal of the Royal Statistical Society. Series A (Statistics in Society). 1992. P. 395-402;</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">Roberts MR, Shields PG, Ambrosone CB, et al. Single-nucleotide polymorphisms in DNA repair genes and association with breast cancer risk in the web study. Carcinogenesis. 2011. P.1223-1230;</mixed-citation><mixed-citation xml:lang="en">Roberts MR, Shields PG, Ambrosone CB, et al. Single-nucleotide polymorphisms in DNA repair genes and association with breast cancer risk in the web study. Carcinogenesis. 2011. P.1223-1230;</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">Sangrajrang S, Schmezer P, Burkholder I, et al. The XRCC3 Thr241Met polymorphism and breast cancer risk: a case-control study in a Thai population. Biomarkers. 2007. P.523-532;</mixed-citation><mixed-citation xml:lang="en">Sangrajrang S, Schmezer P, Burkholder I, et al. The XRCC3 Thr241Met polymorphism and breast cancer risk: a case-control study in a Thai population. Biomarkers. 2007. P.523-532;</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">Cherdyntseva NV, Denisov EV, Litviakov NV, et al. Crosstalk between the FGFR2 and TP53 genes in breast cancer: data from an association study and epistatic interaction analysis. DNA Cell Biol. 2012. P.306-316;</mixed-citation><mixed-citation xml:lang="en">Cherdyntseva NV, Denisov EV, Litviakov NV, et al. Crosstalk between the FGFR2 and TP53 genes in breast cancer: data from an association study and epistatic interaction analysis. DNA Cell Biol. 2012. P.306-316;</mixed-citation></citation-alternatives></ref><ref id="cit13"><label>13</label><citation-alternatives><mixed-citation xml:lang="ru">Yoshimoto N, Nishiyama T, Toyama T, et al. Genetic and environmental predictors, endogenous hormones and growth factors, and risk of estrogen receptor-positive breast cancer in Japanese women. Cancer Sci. 2011. P.2065-2072;</mixed-citation><mixed-citation xml:lang="en">Yoshimoto N, Nishiyama T, Toyama T, et al. Genetic and environmental predictors, endogenous hormones and growth factors, and risk of estrogen receptor-positive breast cancer in Japanese women. Cancer Sci. 2011. P.2065-2072;</mixed-citation></citation-alternatives></ref><ref id="cit14"><label>14</label><citation-alternatives><mixed-citation xml:lang="ru">Denisov EV, Cherdyntseva NV, Litvyakov NV, et al. TP53 mutations and Arg72Pro polymorphism in breast cancers. Cancer Genet Cytogenet. 2009 Jul 15;192(2):93-5.</mixed-citation><mixed-citation xml:lang="en">Denisov EV, Cherdyntseva NV, Litvyakov NV, et al. TP53 mutations and Arg72Pro polymorphism in breast cancers. Cancer Genet Cytogenet. 2009 Jul 15;192(2):93-5.</mixed-citation></citation-alternatives></ref><ref id="cit15"><label>15</label><citation-alternatives><mixed-citation xml:lang="ru">Кипень ВН, Снытков ЕВ, Мельнов СБ. Молекулярно-гистологическая характеристика опухолей молочной железы - вклад генов HMMR и TP53. Молодежь в науке - 2014. Приложение к журналу «Весці Нацыянальнай акадэміі навук Беларусі». 2014. с.43-46.</mixed-citation><mixed-citation xml:lang="en">Кипень ВН, Снытков ЕВ, Мельнов СБ. Молекулярно-гистологическая характеристика опухолей молочной железы - вклад генов HMMR и TP53. Молодежь в науке - 2014. Приложение к журналу «Весці Нацыянальнай акадэміі навук Беларусі». 2014. с.43-46.</mixed-citation></citation-alternatives></ref><ref id="cit16"><label>16</label><citation-alternatives><mixed-citation xml:lang="ru">Stuckey AR, Onstad MA. Hereditary breast cancer: an update on risk assessment and genetic testing in 2015. Am J Obstet Gynecol. 2015 Aug;213(2):161-5.</mixed-citation><mixed-citation xml:lang="en">Stuckey AR, Onstad MA. Hereditary breast cancer: an update on risk assessment and genetic testing in 2015. Am J Obstet Gynecol. 2015 Aug;213(2):161-5.</mixed-citation></citation-alternatives></ref><ref id="cit17"><label>17</label><citation-alternatives><mixed-citation xml:lang="ru">International Statistical Classification of Diseases and Related Health Problems 10th Revision. Edition 2010. 1v - 3 v.</mixed-citation><mixed-citation xml:lang="en">International Statistical Classification of Diseases and Related Health Problems 10th Revision. Edition 2010. 1v - 3 v.</mixed-citation></citation-alternatives></ref><ref id="cit18"><label>18</label><citation-alternatives><mixed-citation xml:lang="ru">Tao Z, Shi A, Lu C, et al. Breast Cancer: Epidemiology and Etiology. Cell Biochem Biophys. 2015 Jun;72(2):333-8.</mixed-citation><mixed-citation xml:lang="en">Tao Z, Shi A, Lu C, et al. Breast Cancer: Epidemiology and Etiology. Cell Biochem Biophys. 2015 Jun;72(2):333-8.</mixed-citation></citation-alternatives></ref><ref id="cit19"><label>19</label><citation-alternatives><mixed-citation xml:lang="ru">Tommiska J, Eerola H, Heinonen M, et al. Breast cancer patients with p53 Pro72 homozygous genotype have a poorer survival. Clin Cancer Res. 2005 Jul 15;11(14):5098-103.</mixed-citation><mixed-citation xml:lang="en">Tommiska J, Eerola H, Heinonen M, et al. Breast cancer patients with p53 Pro72 homozygous genotype have a poorer survival. Clin Cancer Res. 2005 Jul 15;11(14):5098-103.</mixed-citation></citation-alternatives></ref><ref id="cit20"><label>20</label><citation-alternatives><mixed-citation xml:lang="ru">Romanowicz-Makowska H, Smolarz B, Zadrozny M, et al. Single nucleotide polymorphisms in the homologous recombination repair genes and breast cancer risk in Polish women. Tohoku J Exp Med. 2011;224(3):201-8.</mixed-citation><mixed-citation xml:lang="en">Romanowicz-Makowska H, Smolarz B, Zadrozny M, et al. Single nucleotide polymorphisms in the homologous recombination repair genes and breast cancer risk in Polish women. Tohoku J Exp Med. 2011;224(3):201-8.</mixed-citation></citation-alternatives></ref></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
