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<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">surgonco</journal-id><journal-title-group><journal-title xml:lang="ru">Креативная хирургия и онкология</journal-title><trans-title-group xml:lang="en"><trans-title>Creative surgery and oncology</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2076-3093</issn><issn pub-type="epub">2307-0501</issn><publisher><publisher-name>Башкирский государственный медицинский университет</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.24060/2076-3093-2020-10-4-330-338</article-id><article-id custom-type="elpub" pub-id-type="custom">surgonco-537</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>ОБЗОР ЛИТЕРАТУРЫ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>REVIEWS</subject></subj-group></article-categories><title-group><article-title>Роль генетических мутаций в профилактике злокачественных новообразований у здорового населения (обзор литературы)</article-title><trans-title-group xml:lang="en"><trans-title>The Role of Genetic Mutations in the Prevention of Malignant Tumours in a Healthy Population (A Review)</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-8867-504X</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Липатов</surname><given-names>О. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Lipatov</surname><given-names>O. N.</given-names></name></name-alternatives><bio xml:lang="ru"/><bio xml:lang="en"/><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-0773-1239</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Ахметгареева</surname><given-names>К. Т.</given-names></name><name name-style="western" xml:lang="en"><surname>Akhmetgareeva</surname><given-names>K. T.</given-names></name></name-alternatives><bio xml:lang="ru"/><bio xml:lang="en"/><xref ref-type="aff" rid="aff-2"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Республиканский клинический онкологический диспансер</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Republican Clinical Oncological Dispensary</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Республиканский клинический онкологический диспансер;&#13;
Башкирский государственный медицинский университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Republican Clinical Oncological Dispensary;&#13;
Bashkir State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2020</year></pub-date><pub-date pub-type="epub"><day>30</day><month>12</month><year>2020</year></pub-date><volume>10</volume><issue>4</issue><fpage>330</fpage><lpage>338</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Липатов О.Н., Ахметгареева К.Т., 2020</copyright-statement><copyright-year>2020</copyright-year><copyright-holder xml:lang="ru">Липатов О.Н., Ахметгареева К.Т.</copyright-holder><copyright-holder xml:lang="en">Lipatov O.N., Akhmetgareeva K.T.</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.surgonco.ru/jour/article/view/537">https://www.surgonco.ru/jour/article/view/537</self-uri><abstract/><trans-abstract xml:lang="en"/><kwd-group xml:lang="ru"><kwd>злокачественные новообразования</kwd><kwd>профилактика</kwd><kwd>генетическая предрасположенность к болезни</kwd><kwd>генетическое тестирование</kwd><kwd>мутагенности тесты</kwd><kwd>гены EGFR</kwd><kwd>гены BRCA1</kwd><kwd>гены BRCA 2</kwd><kwd>гены TP53</kwd><kwd>гены RET</kwd><kwd>микросателлитная нестабильность</kwd></kwd-group><kwd-group xml:lang="en"><kwd>malignant neoplasms</kwd><kwd>prevention</kwd><kwd>genetic susceptibility to disease</kwd><kwd>genetic testing</kwd><kwd>mutagenicity tests</kwd><kwd>EGFR genes</kwd><kwd>BRCA1 genes</kwd><kwd>BRCA 2 genes</kwd><kwd>TP53 genes</kwd><kwd>RET genes</kwd><kwd>microsatellite instability</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">Каприн А.Д., Старинский В.В., Шахзадова А.О. Cостояние онкологической помощи населению России в 2019 году. М.: МНИОИ им. Герцена — филиал ФГБУ «НМИЦ радиологии» Минздрава России, 2020.</mixed-citation><mixed-citation xml:lang="en">Kaprin A.D., Starinsky V.V., Shakhzadova A.O. State of cancer care for population in Russia in 2019. Moscow: National Medical Research Radiological Centre of the Ministry of Health of the Russian Federation, 2020 (In Russ.).</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Sokolenko A.P., Imyanitov E.N. Molecular diagnostics in clinical oncology. Front Mol Biosci. 2018;5:76. DOI: 10.3389/fmolb.2018.00076</mixed-citation><mixed-citation xml:lang="en">Sokolenko A.P., Imyanitov E.N. Molecular diagnostics in clinical oncology. Front Mol Biosci. 2018;5:76. DOI: 10.3389/fmolb.2018.00076</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Cancer: Fact Sheet No 297. WHO [cited 2015 March 20]. Available from: http://www.who.int/mediacentre/factsheets/fs297/en/</mixed-citation><mixed-citation xml:lang="en">Cancer: Fact Sheet No 297. WHO [cited 2015 March 20]. Available from: http://www.who.int/mediacentre/factsheets/fs297/en/</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Lichtenstein P., Holm N.V., Verksalo P.K., Iliadou A., Kaprio J., Koskenvuo M., et al. Environmental and heritable factors in the causation of cancer-analyses of cohort of twins from Sweden, Denmark, and Finland. N Engl J Med. 2000;343(2):78–85.</mixed-citation><mixed-citation xml:lang="en">Lichtenstein P., Holm N.V., Verksalo P.K., Iliadou A., Kaprio J., Koskenvuo M., et al. Environmental and heritable factors in the causation of cancer-analyses of cohort of twins from Sweden, Denmark, and Finland. N Engl J Med. 2000;343(2):78–85.</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Sultanbaev A., Nasretdinov A., Sultanbaeva N., Minniakhmetov I., Menshikov K., Musin S. 12P EGFR gene mutations landscape at lung cancer in a multinational region located in the southeast of the European part of Russia. Ann Oncol. 2020;31(Suppl. 5):S1220–1. DOI: 10.1016/j.annonc.2020.08.2171</mixed-citation><mixed-citation xml:lang="en">Sultanbaev A., Nasretdinov A., Sultanbaeva N., Minniakhmetov I., Menshikov K., Musin S. 12P EGFR gene mutations landscape at lung cancer in a multinational region located in the southeast of the European part of Russia. Ann Oncol. 2020;31(Suppl. 5):S1220–1. DOI: 10.1016/j.annonc.2020.08.2171</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Sultanbaev A., Nasretdinov A., Menshikov K., Sultanbaeva N., Musin Sh. Spectrum of mutations of epidermal growth factor genes in patients with lung cancer in the Republic of Bashkortostan. In: 46th Annual Meeting of Korean Cancer Association &amp; 6th International Cancer Conference. Seoul, 2020. P. 188.</mixed-citation><mixed-citation xml:lang="en">Sultanbaev A., Nasretdinov A., Menshikov K., Sultanbaeva N., Musin Sh. Spectrum of mutations of epidermal growth factor genes in patients with lung cancer in the Republic of Bashkortostan. In: 46th Annual Meeting of Korean Cancer Association &amp; 6th International Cancer Conference. Seoul, 2020. P. 188.</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Hemminki K., Dong C., Vaittinen P. Cancer risks to spouses and offspring in the family-cancer database. Genet Epidemiol. 2001;20(2): 247–57. DOI: 10.1002/1098-2272(200102)20:2&lt;247::AIDGEPI7&gt;3.0.CO;2-U</mixed-citation><mixed-citation xml:lang="en">Hemminki K., Dong C., Vaittinen P. Cancer risks to spouses and offspring in the family-cancer database. Genet Epidemiol. 2001;20(2): 247–57. DOI: 10.1002/1098-2272(200102)20:2&lt;247::AIDGEPI7&gt;3.0.CO;2-U</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">Yamamoto H., Higasa K., Sakaguchi M., Shien K., Soh J., Ichimura K., et al. Novel germline mutation in the transmembrane domain of HER2 in familial lung adenocarcinomas. J Natl Can Inst. 2014;106(1):djt3382014. DOI: 10.1093/jnci/djt338</mixed-citation><mixed-citation xml:lang="en">Yamamoto H., Higasa K., Sakaguchi M., Shien K., Soh J., Ichimura K., et al. Novel germline mutation in the transmembrane domain of HER2 in familial lung adenocarcinomas. J Natl Can Inst. 2014;106(1):djt3382014. DOI: 10.1093/jnci/djt338</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">Bell D.W., Gore I., Okimoto R.A., GodinHeymann N., Sordella R., Mulloy R., et al. Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR. Nat Genet. 2005;37(12):1315–6. DOI: 10.1038/ng1671</mixed-citation><mixed-citation xml:lang="en">Bell D.W., Gore I., Okimoto R.A., GodinHeymann N., Sordella R., Mulloy R., et al. Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR. Nat Genet. 2005;37(12):1315–6. DOI: 10.1038/ng1671</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">Oxnard G.R., Miller V.A., Robson M.E., Azzoli C.G., Pao W., Ladanyi M., et al. Screening for germline EGFR T790M mutations through lung cancer genotyping. J Thorac Oncol. 2012;7(6):1049–52. DOI: 10.1097/JTO.0b013e318250ed9d</mixed-citation><mixed-citation xml:lang="en">Oxnard G.R., Miller V.A., Robson M.E., Azzoli C.G., Pao W., Ladanyi M., et al. Screening for germline EGFR T790M mutations through lung cancer genotyping. J Thorac Oncol. 2012;7(6):1049–52. DOI: 10.1097/JTO.0b013e318250ed9d</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">Имянитов Е.Н. Роль молекулярно-генетической диагностики в практической онкологии. Практическая онкология. 2019;20(4):261–73. DOI: 10.31917/2004261</mixed-citation><mixed-citation xml:lang="en">Imyanitov E.N. The role of molecular genetic diagnosis in clinical oncology. Practical oncology. 2019;20(4):261–73 (In Russ.). DOI: 10.31917/2004261</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">Султанбаев А.В, Насретдинов А.Ф., Гордиев М.Г., Пушкарев А.В., Мусин Ш.И., Султанбаева Н.И. и др. Персонифицированный подход в ранней диагностике и профилактике злокачественных новообразований. Тезисы. VI Петербургский международный онкологический форум «Белые ночи 2020». Санкт-Петербург, 2020. 111 с.</mixed-citation><mixed-citation xml:lang="en">Sultanbaev A.V., Nasretdinov A.F., Gordiev M.G., Pushkarev A.V., Musin Sh.I., Sultanbaeva N.I., et al. Personalized approach to early diagnosis and prevention of malignant neoplasms. Abstracts. VI St. Petersburg International Oncology Forum “White Nights 2020”. Saint Petersburg; 2020. 111 p. (In Russ.).</mixed-citation></citation-alternatives></ref><ref id="cit13"><label>13</label><citation-alternatives><mixed-citation xml:lang="ru">Gonzalez-Angulo A.M., Timms K.M., Liu S., Chen H., Litton J.K., Potter J., et al. Incidence and outcome of BRCA mutations in unselected patients with triple receptor-negative breast cancer. Clin Cancer Res. 2011;17(5):1082–9. DOI: 10.1158/1078-0432.CCR-10-2560</mixed-citation><mixed-citation xml:lang="en">Gonzalez-Angulo A.M., Timms K.M., Liu S., Chen H., Litton J.K., Potter J., et al. Incidence and outcome of BRCA mutations in unselected patients with triple receptor-negative breast cancer. Clin Cancer Res. 2011;17(5):1082–9. DOI: 10.1158/1078-0432.CCR-10-2560</mixed-citation></citation-alternatives></ref><ref id="cit14"><label>14</label><citation-alternatives><mixed-citation xml:lang="ru">Насретдинов А.Ф., Султанбаева Н.И., Мусин Ш.И., Пушкарев А.В., Меньшиков К.В., Пушкарев В.А. и др. Уровень опухоль-инфильтрирующих лимфоцитов и PD- статус как возможные прогностические маркеры выживаемости и эффективности терапии при трижды негативном раке молочной железы. Опухоли женской репродуктивной системы. 2020;16(1):65–70. DOI: 10.17650/1994-4098-2020-16-1-65-70</mixed-citation><mixed-citation xml:lang="en">Nasretdinov A.F., Sultanbaeva N.I., Musin S.I., Pushkarev A.V., Menshikov K.V., Pushkarev V.A., et al. Level of tumor-infiltrating lymphocytes and PD status as potential prognostic markers of survival and therapy effectiveness in triple-negative breast cancer. Tumors of female reproductive system. 2020;16(1):65–70 (In Russ.). DOI: 10.17650/1994-4098-2020-16-1-65-70</mixed-citation></citation-alternatives></ref><ref id="cit15"><label>15</label><citation-alternatives><mixed-citation xml:lang="ru">Prat J., Ribé A., Gallardo A. Hereditary ovarian cancer. Hum Pathol. 2005;36(8):861–70. DOI: 10.1016/j.humpath.2005.06.006</mixed-citation><mixed-citation xml:lang="en">Prat J., Ribé A., Gallardo A. Hereditary ovarian cancer. Hum Pathol. 2005;36(8):861–70. DOI: 10.1016/j.humpath.2005.06.006</mixed-citation></citation-alternatives></ref><ref id="cit16"><label>16</label><citation-alternatives><mixed-citation xml:lang="ru">Мусин Ш.И., Султанбаева Н.И., Насредтинов А.Ф., Пушкарев А.В., Пушкарев В.А., Меньшиков К.В. и др. Определение высокопенетрантных мутаций у больных раком молочной железы. Norwegian Journal of development of the International Science. 2020;(42-2):56–9.</mixed-citation><mixed-citation xml:lang="en">Musin S.H., Sultanbaeva N., Nasretdinov A., Pushkarev A., Pushkarev V., Menshikov K., et al. Determination of high penetrant mutations in breast cancer patients. Norweg J Develop Int Sci. 2020; (42-2):56–9 (In Russ.).</mixed-citation></citation-alternatives></ref><ref id="cit17"><label>17</label><citation-alternatives><mixed-citation xml:lang="ru">Липатов О.Н., Султанбаева Н.И., Меньшиков К.В., Султанбаев А.В. Опыт определения мутаций в гене PIK3CA у больных раком молочной железы в Республике Башкортостан. Злокачественные oпухоли. 2020;10(3 Suppl. 1). DOI: 10.18027/2224-5057</mixed-citation><mixed-citation xml:lang="en">Lipatov O.N., Sultanbaeva N.I., Menshikov K.V., Sultanbaev A.V. Experience in detecting PIK3CA mutations in patients with breast cancer in the Republic of Bashkortostan. Malignant tumors. 2020;10(3 Suppl. 1) (In Russ.). DOI: 10.18027/2224-5057</mixed-citation></citation-alternatives></ref><ref id="cit18"><label>18</label><citation-alternatives><mixed-citation xml:lang="ru">Antoniou A.C., Casadei S., Heikkinen T., Barrowdale D., Pylkäs K., Roberts J., et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371(6):497–506. DOI: 10.1056/NEJMoa1400382</mixed-citation><mixed-citation xml:lang="en">Antoniou A.C., Casadei S., Heikkinen T., Barrowdale D., Pylkäs K., Roberts J., et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371(6):497–506. DOI: 10.1056/NEJMoa1400382</mixed-citation></citation-alternatives></ref><ref id="cit19"><label>19</label><citation-alternatives><mixed-citation xml:lang="ru">Султанбаев А.В., Меньшиков К.В., Султанбаева Н.И., Мусин Ш.И., Минниахметов И.Р. Организация скрининга рака предстательной железы и носителей герминативных мутаций в генах BRCA1/2. Материалы XV международного конгресса Российского общества онкоурологов. М., 2020. С. 52.</mixed-citation><mixed-citation xml:lang="en">Sultanbaev A.V., Menshikov K.V., Sultanbaeva N.I., Musin S.I., Minniakhmetov I.R. Management of screening of prostate cancer and carriers with mutations of the BRCA1/2 genes. Proceedings of the XV international Congress of the Russian Society of Urologic oncologists. Moscow; 2020. P. 52 (In Russ.).</mixed-citation></citation-alternatives></ref><ref id="cit20"><label>20</label><citation-alternatives><mixed-citation xml:lang="ru">Sultanbaev A., Nasretdinov A., Sultanbaeva N., Menshikov K., Musin S., Izmailov A., et al. Hereditary prostate cancer screening. Eur Urol Open Sci. 2020;21(Suppl 3):S155. DOI: 10.1016/S2666-1683(20)36212-1</mixed-citation><mixed-citation xml:lang="en">Sultanbaev A., Nasretdinov A., Sultanbaeva N., Menshikov K., Musin S., Izmailov A., et al. Hereditary prostate cancer screening. Eur Urol Open Sci. 2020;21(Suppl 3):S155. DOI: 10.1016/S2666-1683(20)36212-1</mixed-citation></citation-alternatives></ref><ref id="cit21"><label>21</label><citation-alternatives><mixed-citation xml:lang="ru">Sultanbaev A., Menshikov K., Sultanbaeva N., Nasretdinov A., Minniakhmetov I., Musin S., et al. Organization of screening for prostate cancer in carriers of germinal mutations in the BRCA1 / 2 genes. Eur Urol Open Sci. 2020;21(Suppl 3):S59. DOI: 10.1016/S2666-1683(20)36064-X</mixed-citation><mixed-citation xml:lang="en">Sultanbaev A., Menshikov K., Sultanbaeva N., Nasretdinov A., Minniakhmetov I., Musin S., et al. Organization of screening for prostate cancer in carriers of germinal mutations in the BRCA1 / 2 genes. Eur Urol Open Sci. 2020;21(Suppl 3):S59. DOI: 10.1016/S2666-1683(20)36064-X</mixed-citation></citation-alternatives></ref><ref id="cit22"><label>22</label><citation-alternatives><mixed-citation xml:lang="ru">Axilbund J.E., Wiley E.A. Genetic testing by cancer site: pancreas. Cancer J. 2012;18(4):350–4. DOI: 10.1097/PPO.0b013e3182624694</mixed-citation><mixed-citation xml:lang="en">Axilbund J.E., Wiley E.A. Genetic testing by cancer site: pancreas. Cancer J. 2012;18(4):350–4. DOI: 10.1097/PPO.0b013e3182624694</mixed-citation></citation-alternatives></ref><ref id="cit23"><label>23</label><citation-alternatives><mixed-citation xml:lang="ru">Samadder N.J., Baffy N., Giridhar K.V., Couch F.J., Riegert-Johnson D. Hereditary cancer syndromes-a primer on diagnosis and management, Part 2: gastrointestinal cancer syndromes. Mayo Clin Proc. 2019;94(6):1099–116. DOI: 10.1016/j.mayocp.2019.01.042</mixed-citation><mixed-citation xml:lang="en">Samadder N.J., Baffy N., Giridhar K.V., Couch F.J., Riegert-Johnson D. Hereditary cancer syndromes-a primer on diagnosis and management, Part 2: gastrointestinal cancer syndromes. Mayo Clin Proc. 2019;94(6):1099–116. DOI: 10.1016/j.mayocp.2019.01.042</mixed-citation></citation-alternatives></ref><ref id="cit24"><label>24</label><citation-alternatives><mixed-citation xml:lang="ru">Carrera S., Sancho A., Azkona E., Azkuna J., Lopez- Vivanco G. Hereditary pancreatic cancer: related syndromes and clinical perspective. Hered Cancer Clin Pract. 2017;15:9. DOI: 10.1186/s13053-017-0069-6</mixed-citation><mixed-citation xml:lang="en">Carrera S., Sancho A., Azkona E., Azkuna J., Lopez-Vivanco G. Hereditary pancreatic cancer: related syndromes and clinical perspective. Hered Cancer Clin Pract. 2017;15:9. DOI: 10.1186/s13053-017-0069-6</mixed-citation></citation-alternatives></ref><ref id="cit25"><label>25</label><citation-alternatives><mixed-citation xml:lang="ru">ten Broeke S.W., Brohet R.M., Tops C.M., van der Klift H.M., Velthuizen M.E., Bernstein I., et al. Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. J Clin Oncol. 2015;33(4):319–25. DOI: 10.1200/JCO.2014.57.8088</mixed-citation><mixed-citation xml:lang="en">ten Broeke S.W., Brohet R.M., Tops C.M., van der Klift H.M., Velthuizen M.E., Bernstein I., et al. Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. J Clin Oncol. 2015;33(4):319–25. DOI: 10.1200/JCO.2014.57.8088</mixed-citation></citation-alternatives></ref><ref id="cit26"><label>26</label><citation-alternatives><mixed-citation xml:lang="ru">Waller A., Findeis S., Lee M.J. Familial adenomatous polyposis. J Pediatr Genet. 2016;5(2):78–83. DOI: 10.1055/s-0036-1579760</mixed-citation><mixed-citation xml:lang="en">Waller A., Findeis S., Lee M.J. Familial adenomatous polyposis. J Pediatr Genet. 2016;5(2):78–83. DOI: 10.1055/s-0036-1579760</mixed-citation></citation-alternatives></ref><ref id="cit27"><label>27</label><citation-alternatives><mixed-citation xml:lang="ru">Talseth-Palmer B.A. The genetic basis of colonic adenomatous polyposis syndromes. Hered Cancer Clin Pract. 2017;15(1):5. DOI: 10.1186/s13053-017-0065-x</mixed-citation><mixed-citation xml:lang="en">Talseth-Palmer B.A. The genetic basis of colonic adenomatous polyposis syndromes. Hered Cancer Clin Pract. 2017;15(1):5. DOI: 10.1186/s13053-017-0065-x</mixed-citation></citation-alternatives></ref><ref id="cit28"><label>28</label><citation-alternatives><mixed-citation xml:lang="ru">Jelsig A.M., Qvist N., Brusgaard K., Nielsen C.B., Hansen T.P., Ousager L.B. Hamartomatous polyposis syndromes: a review. Orphanet J Rare Dis. 2014;9:101. DOI: 10.1186/1750-1172-9-101</mixed-citation><mixed-citation xml:lang="en">28 Jelsig A.M., Qvist N., Brusgaard K., Nielsen C.B., Hansen T.P., Ousager L.B. Hamartomatous polyposis syndromes: a review. Orphanet J Rare Dis. 2014;9:101. DOI: 10.1186/1750-1172-9-101</mixed-citation></citation-alternatives></ref><ref id="cit29"><label>29</label><citation-alternatives><mixed-citation xml:lang="ru">Tavusbay C., Acar T., Kar H., Atahan K., Kamer E. The patients with Peutz-Jeghers syndrome have a high risk of developing cancer. Turk J Surg. 2018;34(2):162–4. DOI: 10.5152/turkjsurg.2017.3241</mixed-citation><mixed-citation xml:lang="en">Tavusbay C., Acar T., Kar H., Atahan K., Kamer E. The patients with Peutz-Jeghers syndrome have a high risk of developing cancer. Turk J Surg. 2018;34(2):162–4. DOI: 10.5152/turkjsurg.2017.3241</mixed-citation></citation-alternatives></ref><ref id="cit30"><label>30</label><citation-alternatives><mixed-citation xml:lang="ru">Valdez J.M., Nichols K.E., Kesserwan C. Li-Fraumeni syndrome: a paradigm for the understanding of hereditary cancer predisposition. Br J Haematol. 2017;176(4):539–52. DOI: 10.1111/bjh.14461</mixed-citation><mixed-citation xml:lang="en">Valdez J.M., Nichols K.E., Kesserwan C. Li-Fraumeni syndrome: a paradigm for the understanding of hereditary cancer predisposition. Br J Haematol. 2017;176(4):539–52. DOI: 10.1111/bjh.14461</mixed-citation></citation-alternatives></ref><ref id="cit31"><label>31</label><citation-alternatives><mixed-citation xml:lang="ru">Correa H. Li-Fraumeni Syndrome. J Pediatr Genet. 2016;5(2):84–8. DOI: 10.1055/s-0036-1579759</mixed-citation><mixed-citation xml:lang="en">Correa H. Li-Fraumeni Syndrome. J Pediatr Genet. 2016;5(2):84–8. DOI: 10.1055/s-0036-1579759</mixed-citation></citation-alternatives></ref><ref id="cit32"><label>32</label><citation-alternatives><mixed-citation xml:lang="ru">McBride K.A., Ballinger M.L., Killick E., Kirk J., Tattersall M.H., Eeles R.A., et al. Li-Fraumeni syndrome: cancer risk assessment and clinical management. Nat Rev Clin Oncol. 2014;11(5):260–71. DOI: 10.1038/nrclinonc.2014.41</mixed-citation><mixed-citation xml:lang="en">McBride K.A., Ballinger M.L., Killick E., Kirk J., Tattersall M.H., Eeles R.A., et al. Li-Fraumeni syndrome: cancer risk assessment and clinical management. Nat Rev Clin Oncol. 2014;11(5):260–71. DOI: 10.1038/nrclinonc.2014.41</mixed-citation></citation-alternatives></ref><ref id="cit33"><label>33</label><citation-alternatives><mixed-citation xml:lang="ru">Bougeard G., Renaux-Petel M., Flaman J.M., Charbonnier C., Fermey P., Belotti M., et al. Revisiting Li- Fraumeni syndrome from TP53 mutation carriers. J Clin Oncol. 2015;33(21):2345–52. DOI: 10.1200/JCO.2014.59.5728</mixed-citation><mixed-citation xml:lang="en">Bougeard G., Renaux-Petel M., Flaman J.M., Charbonnier C., Fermey P., Belotti M., et al. Revisiting Li-Fraumeni syndrome from TP53 mutation carriers. J Clin Oncol. 2015;33(21):2345–52. DOI: 10.1200/JCO.2014.59.5728</mixed-citation></citation-alternatives></ref><ref id="cit34"><label>34</label><citation-alternatives><mixed-citation xml:lang="ru">Mai P.L., Best A.F., Peters J.A., DeCastro R.M., Khincha P.P., Loud J.T., et al. Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. Cancer. 2016;122(23):3673–81. DOI: 10.1002/cncr.30248</mixed-citation><mixed-citation xml:lang="en">Mai P.L., Best A.F., Peters J.A., DeCastro R.M., Khincha P.P., Loud J.T., et al. Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. Cancer. 2016;122(23):3673–81. DOI: 10.1002/cncr.30248</mixed-citation></citation-alternatives></ref><ref id="cit35"><label>35</label><citation-alternatives><mixed-citation xml:lang="ru">Fortuno C., James P., Spurdle A.B. Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome. Hum Mutat. 2018;39(12):1764–73. DOI: 10.1002/humu.23656</mixed-citation><mixed-citation xml:lang="en">Fortuno C., James P., Spurdle A.B. Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome. Hum Mutat. 2018;39(12):1764–73. DOI: 10.1002/humu.23656</mixed-citation></citation-alternatives></ref><ref id="cit36"><label>36</label><citation-alternatives><mixed-citation xml:lang="ru">Zhang K., Zhou J., Zhu X., Luo M., Xu C., Yu J., et al. Germline mutations of PALB2 gene in a sequential series of Chinese patients with breast cancer. Breast Cancer Res Treat. 2017;166(3):865–73. DOI: 10.1007/s10549-017-4425-z</mixed-citation><mixed-citation xml:lang="en">Zhang K., Zhou J., Zhu X., Luo M., Xu C., Yu J., et al. Germline mutations of PALB2 gene in a sequential series of Chinese patients with breast cancer. Breast Cancer Res Treat. 2017;166(3):865–73. DOI: 10.1007/s10549-017-4425-z</mixed-citation></citation-alternatives></ref><ref id="cit37"><label>37</label><citation-alternatives><mixed-citation xml:lang="ru">Norton J.A., Krampitz G., Jensen R.T. Multiple endocrine neoplasia: genetics and clinical management. Surg Oncol Clin N Am. 2015; 24(4): 795–832. DOI: 10.1016/j.soc.2015.06.008</mixed-citation><mixed-citation xml:lang="en">Norton J.A., Krampitz G., Jensen R.T. Multiple endocrine neoplasia: genetics and clinical management. Surg Oncol Clin N Am. 2015; 24(4): 795–832. DOI: 10.1016/j.soc.2015.06.008</mixed-citation></citation-alternatives></ref><ref id="cit38"><label>38</label><citation-alternatives><mixed-citation xml:lang="ru">Goudet P., Dalac A., Le Bras M., Cardot-Bauters C., Niccoli P., Lévy-Bohbot N., et al. MEN1 disease occurring before 21 years old: a 160-patient cohort study from the Groupe d’étude des Tumeurs Endocrines. J Clin Endocrinol Metab. 2015;100(4):1568–77. DOI: 10.1210/jc.2014-3659</mixed-citation><mixed-citation xml:lang="en">Goudet P., Dalac A., Le Bras M., Cardot-Bauters C., Niccoli P., Lévy-Bohbot N., et al. MEN1 disease occurring before 21 years old: a 160-patient cohort study from the Groupe d’étude des Tumeurs Endocrines. J Clin Endocrinol Metab. 2015;100(4):1568–77. DOI: 10.1210/jc.2014-3659</mixed-citation></citation-alternatives></ref><ref id="cit39"><label>39</label><citation-alternatives><mixed-citation xml:lang="ru">Norton J.A., Kinz P.L. Multiple endocrine neoplasias. In: DeVita V.T., Lawrence T.S., Rosenberg S.A. (editors). Cancer: Principles and Practice of Oncology. LWW; 2015. P. 1227–34.</mixed-citation><mixed-citation xml:lang="en">Norton J.A., Kinz P.L. Multiple endocrine neoplasias. In: DeVita V.T., Lawrence T.S., Rosenberg S.A. (editors). Cancer: Principles and Practice of Oncology. LWW; 2015. P. 1227–34.</mixed-citation></citation-alternatives></ref><ref id="cit40"><label>40</label><citation-alternatives><mixed-citation xml:lang="ru">Eng C. Multiple endocrine neoplasia type 2. 1999 Sep 27 [updated 2019 Aug 15]. In: Adam M.P., Ardinger H.H., Pagon R.A., Wallace S.E., Bean L.J.H., Stephens K., et al. (editors). GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993–2020. PMID: 20301434</mixed-citation><mixed-citation xml:lang="en">Eng C. Multiple endocrine neoplasia type 2. 1999 Sep 27 [updated 2019 Aug 15]. In: Adam M.P., Ardinger H.H., Pagon R.A., Wallace S.E., Bean L.J.H., Stephens K., et al. (editors). GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993–2020. PMID: 20301434</mixed-citation></citation-alternatives></ref><ref id="cit41"><label>41</label><citation-alternatives><mixed-citation xml:lang="ru">Tomuschat C., Puri P. RET gene is a major risk factor for Hirschsprung’s disease: a meta-analysis. Pediatr Surg Int. 2015;31:701–10. DOI: 10.1007/s00383-015-3731-y</mixed-citation><mixed-citation xml:lang="en">Tomuschat C., Puri P. RET gene is a major risk factor for Hirschsprung’s disease: a meta-analysis. Pediatr Surg Int. 2015;31:701–10. DOI: 10.1007/s00383-015-3731-y</mixed-citation></citation-alternatives></ref><ref id="cit42"><label>42</label><citation-alternatives><mixed-citation xml:lang="ru">Rajagopala S.V., Vashee S., Oldfield L.M., Suzuki Y., Venter J.C., Telenti A., et al. The human microbiome and cancer. Cancer Prev Res (Phila). 2017;10(4):226–34. DOI: 10.1158/1940-6207.CAPR-16-0249</mixed-citation><mixed-citation xml:lang="en">Rajagopala S.V., Vashee S., Oldfield L.M., Suzuki Y., Venter J.C., Telenti A., et al. The human microbiome and cancer. Cancer Prev Res (Phila). 2017;10(4):226–34. DOI: 10.1158/1940-6207.CAPR-16-0249</mixed-citation></citation-alternatives></ref><ref id="cit43"><label>43</label><citation-alternatives><mixed-citation xml:lang="ru">Garrett W.S. Cancer and the microbiota. Science. 2015;348:80–6. DOI: 10.1126/science.aaa4972</mixed-citation><mixed-citation xml:lang="en">Garrett W.S. Cancer and the microbiota. Science. 2015;348:80–6. DOI: 10.1126/science.aaa4972</mixed-citation></citation-alternatives></ref><ref id="cit44"><label>44</label><citation-alternatives><mixed-citation xml:lang="ru">Zhang J., Walsh M.F., Wu G., Edmonson M.N., Gruber T.A., Easton J., et al. Germline mutations in predisposition genes in pediatric cancer. N Engl J Med. 2015;373(24):2336–46. DOI: 10.1056/NEJMoa1508054</mixed-citation><mixed-citation xml:lang="en">Zhang J., Walsh M.F., Wu G., Edmonson M.N., Gruber T.A., Easton J., et al. Germline mutations in predisposition genes in pediatric cancer. N Engl J Med. 2015;373(24):2336–46. DOI: 10.1056/NEJMoa1508054</mixed-citation></citation-alternatives></ref><ref id="cit45"><label>45</label><citation-alternatives><mixed-citation xml:lang="ru">University of Chicago Hematopoietic Malignancies Cancer Risk Team. How I diagnose and manage individuals at risk for inherited myeloid malignancies. Blood. 2016;128(14):1800–13. DOI: 10.1182/blood-2016-05-670240</mixed-citation><mixed-citation xml:lang="en">University of Chicago Hematopoietic Malignancies Cancer Risk Team. How I diagnose and manage individuals at risk for inherited myeloid malignancies. Blood. 2016;128(14):1800–13. DOI: 10.1182/blood-2016-05-670240</mixed-citation></citation-alternatives></ref><ref id="cit46"><label>46</label><citation-alternatives><mixed-citation xml:lang="ru">Poggi M., Canault M., Favier M., Turro E., Saultier P., Ghalloussi D., et al. Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors. Haematologica. 2017;102(2):282–94. DOI: 10.3324/haematol.2016.147694</mixed-citation><mixed-citation xml:lang="en">Poggi M., Canault M., Favier M., Turro E., Saultier P., Ghalloussi D., et al. Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors. Haematologica. 2017;102(2):282–94. DOI: 10.3324/haematol.2016.147694</mixed-citation></citation-alternatives></ref><ref id="cit47"><label>47</label><citation-alternatives><mixed-citation xml:lang="ru">Melazzini F., Palombo F., Balduini A., De Rocco D., Marconi C., Noris P., et al. Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica. 2016;101(11):1333–42. DOI: 10.3324/haematol.2016.147496</mixed-citation><mixed-citation xml:lang="en">Melazzini F., Palombo F., Balduini A., De Rocco D., Marconi C., Noris P., et al. Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica. 2016;101(11):1333–42. DOI: 10.3324/haematol.2016.147496</mixed-citation></citation-alternatives></ref><ref id="cit48"><label>48</label><citation-alternatives><mixed-citation xml:lang="ru">Hyde R.K., Liu P.P. Germline PAX5 mutations and B cell leukemia. Nat Genet. 2013;45(10):1104–5. DOI: 10.1038/ng.2778</mixed-citation><mixed-citation xml:lang="en">Hyde R.K., Liu P.P. Germline PAX5 mutations and B cell leukemia. Nat Genet. 2013;45(10):1104–5. DOI: 10.1038/ng.2778</mixed-citation></citation-alternatives></ref><ref id="cit49"><label>49</label><citation-alternatives><mixed-citation xml:lang="ru">Swaminathan M., Bannon S.A., Routbort M., Naqvi K., Kadia T.M., Takahashi K., et al. Hematologic malignancies and Li-Fraumeni syndrome. Cold Spring Harb Mol Case Stud. 2019;5(1):a003210. DOI: 10.1101/mcs.a003210</mixed-citation><mixed-citation xml:lang="en">Swaminathan M., Bannon S.A., Routbort M., Naqvi K., Kadia T.M., Takahashi K., et al. Hematologic malignancies and Li-Fraumeni syndrome. Cold Spring Harb Mol Case Stud. 2019;5(1):a003210. DOI: 10.1101/mcs.a003210</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>
