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<article 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" xmlns:ali="http://www.niso.org/schemas/ali/1.0/" article-type="review-article" dtd-version="1.2" xml:lang="en"><front><journal-meta><journal-id journal-id-type="publisher-id">Cancer Urology</journal-id><journal-title-group><journal-title xml:lang="en">Cancer Urology</journal-title><trans-title-group xml:lang="ru"><trans-title>Онкоурология</trans-title></trans-title-group></journal-title-group><issn publication-format="print">1726-9776</issn><issn publication-format="electronic">1996-1812</issn><publisher><publisher-name xml:lang="en">Publishing House ABV Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">1859</article-id><article-id pub-id-type="doi">10.17650/1726-9776-2025-21-4-150-161</article-id><article-categories><subj-group subj-group-type="toc-heading" xml:lang="en"><subject>REVIEWS</subject></subj-group><subj-group subj-group-type="toc-heading" xml:lang="ru"><subject>ОБЗОРЫ</subject></subj-group><subj-group subj-group-type="article-type"><subject>Review Article</subject></subj-group></article-categories><title-group><article-title xml:lang="en">Genetic susceptibility to bladder cancer</article-title><trans-title-group xml:lang="ru"><trans-title>Генетическая предрасположенность к раку мочевого пузыря</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-6975-5151</contrib-id><name-alternatives><name xml:lang="en"><surname>Zaripova</surname><given-names>A. R.</given-names></name><name xml:lang="ru"><surname>Зарипова</surname><given-names>А. Р.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>Institute of Biochemistry and Genetics</p></bio><bio xml:lang="ru"><p>Институт биохимии и генетики </p></bio><email>marina_berm@mail.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0584-3969</contrib-id><name-alternatives><name xml:lang="en"><surname>Bermisheva</surname><given-names>Marina A.</given-names></name><name xml:lang="ru"><surname>Бермишева</surname><given-names>Марина Алексеевна</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences</p></bio><bio xml:lang="ru"><p>Институт биохимии и генетики ФГБНУ «Уфимский федеральный исследовательский центр Российской академии наук»</p></bio><email>marina_berm@mail.ru</email><xref ref-type="aff" rid="aff1"/><xref ref-type="aff" rid="aff2"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-9499-5632</contrib-id><name-alternatives><name xml:lang="en"><surname>Gilyazova</surname><given-names>I. R.</given-names></name><name xml:lang="ru"><surname>Гилязова</surname><given-names>И. Р.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences</p></bio><bio xml:lang="ru"><p>Институт биохимии и генетики ФГБНУ «Уфимский федеральный исследовательский центр Российской академии наук»</p></bio><email>marina_berm@mail.ru</email><xref ref-type="aff" rid="aff1"/><xref ref-type="aff" rid="aff2"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-8461-9243</contrib-id><name-alternatives><name xml:lang="en"><surname>Izmailov</surname><given-names>A. A.</given-names></name><name xml:lang="ru"><surname>Измайлов</surname><given-names>А. А.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>marina_berm@mail.ru</email><xref ref-type="aff" rid="aff3"/></contrib></contrib-group><aff-alternatives id="aff1"><aff><institution xml:lang="en">Ufa Federal Research Centre of the Russian Academy of Sciences</institution></aff><aff><institution xml:lang="ru">ФГБНУ «Уфимский федеральный исследовательский центр Российской академии наук»</institution></aff></aff-alternatives><aff-alternatives id="aff2"><aff><institution xml:lang="en">Bashkir State Medical University, Ministry of Health of Russia</institution></aff><aff><institution xml:lang="ru">ФГБОУ ВО «Башкирский государственный медицинский университет» Минздрава России</institution></aff></aff-alternatives><aff-alternatives id="aff3"><aff><institution xml:lang="en">Republican Clinical Oncology Dispensary, Ministry of Health of the Republic of Bashkortostan, Ufa</institution></aff><aff><institution xml:lang="ru">ГАУЗ «Республиканский клинический онкологический диспансер» Минздрава Республики Башкортостан, Уфа</institution></aff></aff-alternatives><pub-date date-type="pub" iso-8601-date="2026-03-16" publication-format="electronic"><day>16</day><month>03</month><year>2026</year></pub-date><volume>21</volume><issue>4</issue><issue-title xml:lang="en"/><issue-title xml:lang="ru"/><fpage>150</fpage><lpage>161</lpage><history><date date-type="received" iso-8601-date="2024-10-23"><day>23</day><month>10</month><year>2024</year></date><date date-type="accepted" iso-8601-date="2026-02-19"><day>19</day><month>02</month><year>2026</year></date></history><permissions><copyright-statement xml:lang="en">Copyright ©; 2026, Zaripova A.R., Bermisheva M.A., Gilyazova I.R., Izmailov A.A.</copyright-statement><copyright-statement xml:lang="ru">Copyright ©; 2026, Зарипова А.Р., Бермишева М.А., Гилязова И.Р., Измайлов А.А.</copyright-statement><copyright-year>2026</copyright-year><copyright-holder xml:lang="en">Zaripova A.R., Bermisheva M.A., Gilyazova I.R., Izmailov A.A.</copyright-holder><copyright-holder xml:lang="ru">Зарипова А.Р., Бермишева М.А., Гилязова И.Р., Измайлов А.А.</copyright-holder><ali:free_to_read xmlns:ali="http://www.niso.org/schemas/ali/1.0/"/><license><ali:license_ref xmlns:ali="http://www.niso.org/schemas/ali/1.0/">https://creativecommons.org/licenses/by/4.0</ali:license_ref></license></permissions><self-uri xlink:href="https://oncourology.eco-vector.com/oncur/article/view/1859">https://oncourology.eco-vector.com/oncur/article/view/1859</self-uri><abstract xml:lang="en"><p><bold>Background.</bold><bold> </bold>Bladder cancer (BC) is one of the most common cancers worldwide, representing an urgent problem of modern oncology. Various external and internal environmental factors increase the disease risk. Genetic susceptibility to BC is unquestioned and actively researched nowadays.</p> <p><bold>Aim.</bold> To analyze current advances in genetic factors of BC and to assess the prospects for further research in this area.</p> <p><bold>Materials and methods.</bold> A systematic analysis of modern literature available in the PubMed database was conducted.</p> <p><bold>Results and conclusion.</bold> A small part of BC cases is associated with hereditary syndromes, which are characterized by BC development. Genes regulating cellular metabolism, DNA repair, and cell cycle are associated with BC. Today, there is a clear understanding that high-risk genes are rarely involved in the development of most BC cases, but there are many polymorphic loci with low penetrance and moderate effects that acting together increase BC risk, indicating a complex polygenic inheritance pattern for this disease.</p></abstract><trans-abstract xml:lang="ru"><p><bold>Введение.</bold> Рак мочевого пузыря (РМП) является одним из широко распространенных видов злокачественных новообразований в мире, представляя собой актуальную проблему современной онкологии. Разные факторы внешней и внутренней среды увеличивают вероятность развития заболевания. Генетическая предрасположенность индивидов к развитию опухолей мочевого пузыря представляет особый интерес.</p> <p><bold>Цель исследования</bold> – анализ современных достижений в изучении генетических факторов РМП и оценка перспектив дальнейших исследований в этой области.</p> <p><bold>Материалы и методы.</bold> Проведен систематический анализ литературы, доступной в базе данных PubMed преимущественно за последние несколько лет.</p> <p><bold>Результаты и заключение.</bold> Небольшой процент случаев заболевания связан с наследственными синдромами, для которых характерно развитие РМП. Среди генов, ассоциированных с развитием РМП, можно выделить гены, регулирующие метаболизм канцерогенов, репарацию ДНК и клеточный цикл. На сегодняшний день сложилось ясное видение того, что в развитие большинства случаев заболевания редко вовлечены гены высокого риска, но существует множество полиморфных локусов с низкой пенетрантностью и умеренными эффектами, которые в совокупности повышают риск развития РМП, указывая на сложную полигенную модель наследования данного заболевания.</p></trans-abstract><kwd-group xml:lang="en"><kwd>bladder cancer</kwd><kwd>genetic susceptibility</kwd><kwd>gene</kwd><kwd>pathogenic variant</kwd><kwd>single nucleotide polymorphis</kwd><kwd>hereditary cancer</kwd></kwd-group><kwd-group xml:lang="ru"><kwd>рак мочевого пузыря</kwd><kwd>генетическая предрасположенность</kwd><kwd>ген</kwd><kwd>патогенный вариант</kwd><kwd>однонуклеотидный полиморфный вариант</kwd><kwd>семейные формы рака</kwd></kwd-group><funding-group><award-group><funding-source><institution-wrap><institution xml:lang="ru">Министерство науки и высшего образования Российской Федерации</institution></institution-wrap><institution-wrap><institution xml:lang="en">Ministry of Education and Science of the Russian Federation</institution></institution-wrap></funding-source><award-id>1022040500074-9</award-id></award-group><funding-statement xml:lang="en">The work was performed within the framework of the state assignment of the Ministry of Education and Science of the Russian Federation (No. 1022040500074-9), and partially funded by the strategic leadership program “Priority 2030” of the Bashkir State Medical University, Ministry of Health of Russia.</funding-statement><funding-statement xml:lang="ru">Работа выполнена в рамках государственного задания Минобрнауки РФ (№ 1022040500074-9) при частичной финансовой поддержке программы стратегического лидерства «Приоритет 2030» ФГБОУ ВО «Башкирский государственный медицинский университет».</funding-statement></funding-group></article-meta></front><body></body><back><ref-list><ref id="B1"><label>1.</label><mixed-citation>Sung H., Ferlay J., Siegel R.L. et al. Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries. CA Cancer J Clin 2021;71(3):209–49. DOI: 10.3322/caac.21660</mixed-citation></ref><ref id="B2"><label>2.</label><citation-alternatives><mixed-citation xml:lang="en">State of oncological care in Russia in 2022. Eds.: А.D. Kaprin, V.V. Starinskiy, A.O. Shachzadova. Moscow: MNIOI im. P.A. Gertsena – filial FGBU “NMITS radiologii” Minzdrava Rossii, 2022. 239 p. (In Russ.).</mixed-citation><mixed-citation xml:lang="ru">Состояние онкологической помощи населению России в 2022 году. Под ред. А.Д. Каприна, В.В. Старинского, А.О. Шахзадовой. М.: МНИОИ им. П.А. Герцена – филиал ФГБУ «НМИЦ радиологии» Минздрава России, 2022. 239 с.</mixed-citation></citation-alternatives></ref><ref id="B3"><label>3.</label><citation-alternatives><mixed-citation xml:lang="en">Malignant tumors in Russia in 2021 (morbidity and mortality). Eds.: А.D. Kaprin, V.V. Starinskiy, G.V. Petrova. Moscow: MNIOI im. P.A. Gertsena – filial FGBU “NMITS radiologii” Minzdrava Rossii, 2022. 252 p. (In Russ.).</mixed-citation><mixed-citation xml:lang="ru">Злокачественные новообразования в России в 2021 году (заболеваемость и смертность). Под ред. А.Д. Каприна, В.В. Старинского, Г.В. Петровой. М.: МНИОИ им. П.А. Герцена – филиал ФГБУ «НМИЦ радиологии» Минздрава России, 2022. 252 с.</mixed-citation></citation-alternatives></ref><ref id="B4"><label>4.</label><mixed-citation>Knowles M.A., Hurst C.D. Molecular biology of bladder cancer: new insights into pathogenesis and clinical diversity. Nat Rev Cancer 2015;15(1):25–41. DOI: 10.1038/nrc3817</mixed-citation></ref><ref id="B5"><label>5.</label><mixed-citation>Sylvester R.J., van der Meijden A.P.M., Oosterlinck W. et al. Predicting recurrence and progression in individual patients with stage Ta T1 bladder cancer using EORTC risk tables: a combined analysis of 2596 patients from seven EORTC trials. Eur Urol 2006;49(3):466–77. DOI: 10.1016/j.eururo.2005.12.031</mixed-citation></ref><ref id="B6"><label>6.</label><mixed-citation>Mitash N., Agnihotri S., Mittal B. et al. Molecular cystoscopy: micro-RNAs could be a marker for identifying genotypic changes for transitional cell carcinoma of the urinary bladder. Indian J Urol 2016;32(2):149. DOI: 10.4103/0970-1591.174775</mixed-citation></ref><ref id="B7"><label>7.</label><mixed-citation>Lobo N., Mount C., Omar K. et al. Landmarks in the treatment of muscle-invasive bladder cancer. Nat Rev Urol 2017;14(9):565–74. DOI: 10.1038/nrurol.2017.82</mixed-citation></ref><ref id="B8"><label>8.</label><mixed-citation>Freedman N.D. Association between smoking and risk of bladder cancer among men and women. JAMA 2011;306(7):737. DOI: 10.1001/jama.2011.1142</mixed-citation></ref><ref id="B9"><label>9.</label><mixed-citation>Fraumeni J.F. Malignant bladder tumors in a man and his three sons. JAMA J Am Med Assoc 1967;201(7):507. DOI: 10.1001/jama.1967.03130070027006</mixed-citation></ref><ref id="B10"><label>10.</label><mixed-citation>Koutros S., Decker K.L., Baris D. et al. Bladder cancer risk associated with family history of cancer. Int J Cancer 2021;148(12):2915–23. DOI: 10.1002/ijc.33486</mixed-citation></ref><ref id="B11"><label>11.</label><mixed-citation>Pemov A., Wegman-Ostrosky T., Kim J. et al. Identification of genetic risk factors for familial urinary bladder cancer: an exome sequencing study. JCO Precis Oncol 2021;(5):1830–9. DOI: 10.1200/PO.21.00115</mixed-citation></ref><ref id="B12"><label>12.</label><mixed-citation>Nassour A.J., Jain A., Hui N. et al. Relative risk of bladder and kidney cancer in Lynch syndrome: systematic review and meta-analysis. Cancers (Basel) 2023;15(2):506. DOI: 10.3390/cancers15020506</mixed-citation></ref><ref id="B13"><label>13.</label><mixed-citation>Lynch H.T., Snyder C.L., Shaw T.G. et al. Milestones of Lynch syndrome: 1895–2015. Nat Rev Cancer 2015;15(3):181–94. DOI: 10.1038/nrc3878</mixed-citation></ref><ref id="B14"><label>14.</label><mixed-citation>Kunkel T.A., Erie D.A. Eukaryotic mismatch repair in relation to DNA replication. Annu Rev Genet 2015;49(1):291–313. DOI: 10.1146/annurev-genet-112414-054722</mixed-citation></ref><ref id="B15"><label>15.</label><mixed-citation>Li K., Luo H., Huang L. et al. Microsatellite instability: a review of what the oncologist should know. Cancer Cell Int 2020;20:16. DOI: 10.1186/s12935-019-1091-8</mixed-citation></ref><ref id="B16"><label>16.</label><mixed-citation>Reyes G.X., Schmidt T.T., Kolodner R.D., Hombauer H. New insights into the mechanism of DNA mismatch repair. Chromosoma 2015;124:443–62. DOI: 10.1007/s00412-015-0514-0</mixed-citation></ref><ref id="B17"><label>17.</label><mixed-citation>Pecina-Šlaus N., Kafka A., Salamon I., Bukovac A. Mismatch repair pathway, genome stability and cancer. Front Mol Biosci 2020;7:122. DOI: 10.3389/fmolb.2020.00122</mixed-citation></ref><ref id="B18"><label>18.</label><mixed-citation>Duraturo F., Liccardo R., De Rosa M. et al. Genetics, diagnosis and treatment of Lynch syndrome: old lessons and current challenges (Review). Oncol Lett 2019;17(3):3048–54. DOI: 10.3892/ol.2019.9945</mixed-citation></ref><ref id="B19"><label>19.</label><mixed-citation>Wischhusen J.W., Ukaegbu C., Dhingra T.G. et al. Clinical factors associated with urinary tract cancer in individuals with Lynch Syndrome. Cancer Epidemiol Biomarkers Prev 2020;29(1):193–9. DOI: 10.1158/1055-9965.EPI-19-0213</mixed-citation></ref><ref id="B20"><label>20.</label><mixed-citation>Van der Post R.S., Kiemeney L.A., Ligtenberg M.J.L. et al. Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. J Med Genet 2010;47:464–70. DOI: 10.1136/jmg.2010.076992</mixed-citation></ref><ref id="B21"><label>21.</label><mixed-citation>Skeldon S.C., Semotiuk K., Aronson M. et al. Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer. Eur Urol 2013;63(2):379–85. DOI: 10.1016/j.eururo.2012.07.047</mixed-citation></ref><ref id="B22"><label>22.</label><mixed-citation>Møller P., Seppälä T.T., Bernstein I. et al. Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database. Gut 2018;67:1306–16. DOI: 10.1136/gutjnl-2017-314057</mixed-citation></ref><ref id="B23"><label>23.</label><mixed-citation>Schmidt M.H., Pearson C.E. Disease-associated repeat instability and mismatch repair. DNA Repair 2016;38:117–2. DOI: 10.1016/j.dnarep.2015.11.008</mixed-citation></ref><ref id="B24"><label>24.</label><mixed-citation>Hause R.J., Pritchard C.C., Shendure J., Salipante S.J. Classification and characterization of microsatellite instability across 18 cancer types. Nat Med 2016;22:1342–50. DOI: 10.1038/nm.4191</mixed-citation></ref><ref id="B25"><label>25.</label><mixed-citation>McGrail D.J., Garnett J., Yin J. et al. Proteome instability is a therapeutic vulnerability in mismatch repair-deficient cancer. Cancer Cell 2020;37:371–86.e12. DOI: 10.1016/j.ccell.2020.01.011</mixed-citation></ref><ref id="B26"><label>26.</label><mixed-citation>Yamamoto H., Imai K. An updated review of microsatellite instability in the era of next-generation sequencing and precision medicine. Semin Oncol 2019;46:261–70. DOI: 10.1053/j.seminoncol.2019.08.003</mixed-citation></ref><ref id="B27"><label>27.</label><mixed-citation>Rosenthal S.H., Sun W., Zhang K. et al. Development and validation of a 34-gene inherited cancer predisposition panel using next-generation sequencing. Biomed Res Int 2020:3289023. DOI: 10.1155/2020/3289023</mixed-citation></ref><ref id="B28"><label>28.</label><mixed-citation>Gripp K.W., Morse L.A., Axelrad M. et al. Costello syndrome: clinical phenotype, genotype, and management guidelines. Am J Med Genet Part A 2019;179(9):1725–44. DOI: 10.1002/ajmg.a.61270</mixed-citation></ref><ref id="B29"><label>29.</label><mixed-citation>Aoki Y., Niihori T., Kawame H. et al. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 2005;37(10):1038–40. DOI: 10.1038/ng1641</mixed-citation></ref><ref id="B30"><label>30.</label><mixed-citation>Bertola D., Buscarilli M., Stabley D.L. et al. Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp. Am J Med Genet Part A 2017;173(5):1309–18. DOI: 10.1002/ajmg.a.38178</mixed-citation></ref><ref id="B31"><label>31.</label><mixed-citation>Gripp K.W., Kolbe V., Brandenstein L.I. et al. Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G&gt;T; p.Gly60Val) affecting signalling dynamics. Clin Genet 2017;92(3):332–7. DOI: 10.1111/cge.12980</mixed-citation></ref><ref id="B32"><label>32.</label><mixed-citation>Astiazaran-Symonds E., Ney G.M., Higgs C. et al. Cancer in Costello syndrome: a systematic review and meta-analysis. Br J Cancer 2023;128(11):2089–96. DOI: 10.1038/s41416-023-02229-7</mixed-citation></ref><ref id="B33"><label>33.</label><mixed-citation>Andreou A., Lamy A., Layet V. et al. Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg). Am J Med Genet A 2006;140:2245–7. DOI: 10.1002/ajmg.a.31430</mixed-citation></ref><ref id="B34"><label>34.</label><mixed-citation>Morak M., Heidenreich B., Keller G. et al. Biallelic MUTYH mutations can mimic Lynch syndrome. Eur J Hum Genet 2014;22(11):1334–7. DOI: 10.1038/ejhg.2014.15</mixed-citation></ref><ref id="B35"><label>35.</label><mixed-citation>Win A.K., Reece J.C., Dowty J.G. et al. Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH. Int J Cancer 2016;139(7):1557–63. DOI: 10.1002/ijc.30197</mixed-citation></ref><ref id="B36"><label>36.</label><mixed-citation>Nassar A.H., Abou Alaiwi S., AlDubayan S.H. et al. Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma. Genet Med 2020;22(4):709–18. DOI: 10.1038/s41436-019-0720-x</mixed-citation></ref><ref id="B37"><label>37.</label><mixed-citation>Carlo M.I., Ravichandran V., Srinavasan P. et al. Cancer susceptibility mutations in patients with urothelial malignancies. J Clin Oncol 2020;38(5):406–14. DOI: 10.1200/JCO.19.01395</mixed-citation></ref><ref id="B38"><label>38.</label><mixed-citation>Prakash R., Zhang Y., Feng W. et al. Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins. Cold Spring Harb Perspect Biol 2015;7(4):a016600. DOI: 10.1101/cshperspect.a016600</mixed-citation></ref><ref id="B39"><label>39.</label><mixed-citation>Loizidou M.A., Neophytou I., Papamichael D. et al. The mutational spectrum of Lynch syndrome in Cyprus. PLoS One 2014;9(8):e105501. DOI: 10.1371/journal.pone.0105501</mixed-citation></ref><ref id="B40"><label>40.</label><mixed-citation>Andersen S.D., Liberti S.E., Lützen A. et al. Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. Hum Mutat 2012;33(12):1647–55. DOI: 10.1002/humu.22153</mixed-citation></ref><ref id="B41"><label>41.</label><mixed-citation>Meijers-Heijboer H., van den Ouweland A., Klijn J. et al. Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 2002;31(1):55–9. DOI: 10.1038/ng879</mixed-citation></ref><ref id="B42"><label>42.</label><citation-alternatives><mixed-citation xml:lang="en">Bermisheva M., Takhirova Z., Bogdanova N., Khusnutdinova E. Frequency of mutations in the CHEK2 gene in breast cancer patients from the Republic of Bashkortostan. Molekulyarnaya biologiya = Molecular Biology 2014;48(1):55–61. (In Russ.). DOI: 10.7868/S0026898414010029</mixed-citation><mixed-citation xml:lang="ru">Бермишева М., Тахирова З., Богданова Н., Хуснутдинова Э. Частота мутаций в гене СНЕК2 у больных раком молочной железы из Республики Башкортостан. Молекулярная биология 2014;48(1):55–61. DOI: 10.7868/S0026898414010029</mixed-citation></citation-alternatives></ref><ref id="B43"><label>43.</label><mixed-citation>Sweis R.F., Heiss B., Segal J. et al. Clinical activity of olaparib in urothelial bladder cancer with DNA damage response gene mutations. JCO Precis Oncol 2018;2:1–7. DOI: 10.1200/PO.18.00264</mixed-citation></ref><ref id="B44"><label>44.</label><mixed-citation>Abbas N., Chehade L., Shamseddine A. Personalized treatment with PARP inhibitors in advanced urothelial carcinoma: a case report and literature review. Ther Adv Med Oncol 2024;16:1–8. DOI: 10.1177/17588359241245283</mixed-citation></ref><ref id="B45"><label>45.</label><mixed-citation>Tripathi A., Lerner S.P. Poly(ADP-ribose)polymerase inhibition in advanced urothelial carcinoma. JCO Precis Oncol 2023;7:e2300293. DOI: 10.1200/PO.23.00293</mixed-citation></ref><ref id="B46"><label>46.</label><mixed-citation>Fabbri L., Bost F., Mazure N.M. Primary cilium in cancer hallmarks. Int J Mol Sci 2019;20(6):1336. DOI: 10.3390/ijms20061336</mixed-citation></ref><ref id="B47"><label>47.</label><mixed-citation>Higgins M., Obaidi I., McMorrow T. Primary cilia and their role in cancer (Review). Oncol Lett 2019;17(3):3041–7. DOI: 10.3892/ol.2019.9942</mixed-citation></ref><ref id="B48"><label>48.</label><mixed-citation>Liu H., Kiseleva A.A., Golemis E.A. Ciliary signalling in cancer. Nat Rev Cancer 2018;18(8):511–24. DOI: 10.1038/s41568-018-0023-6</mixed-citation></ref><ref id="B49"><label>49.</label><mixed-citation>Andrew A.S., Gui J., Sanderson A.C. et al. Bladder cancer SNP panel predicts susceptibility and survival. Hum Genet 2009;125(5–6): 527–39. DOI: 10.1007/s00439-009-0645-6</mixed-citation></ref><ref id="B50"><label>50.</label><mixed-citation>Goetz S.C., Anderson K.V. The primary cilium: a signalling centre during vertebrate development. Nat Rev Genet 2010;11(5):331–44. DOI: 10.1038/nrg2774</mixed-citation></ref><ref id="B51"><label>51.</label><mixed-citation>Ishikawa H., Marshall W.F. Ciliogenesis: building the cell’s antenna. Nat Rev Mol Cell Biol 2011;12(4):222–34. DOI: 10.1038/nrm3085</mixed-citation></ref><ref id="B52"><label>52.</label><mixed-citation>Youn Y.H., Hou S., Wu C.C. et al. Primary cilia control translation and the cell cycle in medulloblastoma. Genes Dev 2022;36(11–12): 737–51. DOI: 10.1101/gad.349596.122</mixed-citation></ref><ref id="B53"><label>53.</label><mixed-citation>De Maturana E.L., Rava M., Anumudu C. et al. Bladder cancer genetic susceptibility. A systematic review. Bladder Cancer 2018;4(2):215–26. DOI: 10.3233/BLC-170159</mixed-citation></ref><ref id="B54"><label>54.</label><mixed-citation>Selinski S., Blaszkewicz M., Ickstadt K. et al. Identification and replication of the interplay of four genetic high-risk variants for urinary bladder cancer. Carcinogenesis 2017;38(12):1167–79. DOI: 10.1093/carcin/bgx102</mixed-citation></ref><ref id="B55"><label>55.</label><mixed-citation>Figueroa J.D., Middlebrooks C.D., Banday A.R. et al. Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry. Hum Mol Genet 2016;25(6):1203–14. DOI: 10.1093/hmg/ddv492</mixed-citation></ref><ref id="B56"><label>56.</label><mixed-citation>Figueroa J.D., Ye Y., Siddiq A. et al. Genome-wide association study identifies multiple loci associated with bladder cancer risk. Hum Mol Genet 2014;23(5):1387–98. DOI: 10.1093/hmg/ddt519</mixed-citation></ref><ref id="B57"><label>57.</label><mixed-citation>Rafnar T., Sulem P., Thorleifsson G. et al. Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer. Hum Mol Genet 2014;23(20):5545–57. DOI: 10.1093/hmg/ddu264</mixed-citation></ref><ref id="B58"><label>58.</label><mixed-citation>Rothman N., Garcia-Closas M., Chatterjee N. et al. A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. Nat Genet 2010;42(11):978–84. DOI: 10.1038/ng.687</mixed-citation></ref><ref id="B59"><label>59.</label><mixed-citation>Wu X., Ye Y., Kiemeney L.A. et al. Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer. Nat Genet 2009;41(9):991–5. DOI: 10.1038/ng.421</mixed-citation></ref><ref id="B60"><label>60.</label><mixed-citation>Kiemeney L.A., Sulem P., Besenbacher S. et al. A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer. Nat Genet 2010;42(5):415–9. DOI: 10.1038/ng.558</mixed-citation></ref><ref id="B61"><label>61.</label><mixed-citation>Matsuda K., Takahashi A., Middlebrooks C.D. et al. Genome-wide association study identified SNP on 15q24 associated with bladder cancer risk in Japanese population. Hum Mol Genet 2015;24(4):1177–84. DOI: 10.1093/hmg/ddu512</mixed-citation></ref><ref id="B62"><label>62.</label><mixed-citation>Wang M., Li Z., Chu H. et al. Genome-wide association study of bladder cancer in a Chinese cohort reveals a new susceptibility locus at 5q12.3. Cancer Res 2016;76(11):3277–84. DOI: 10.1158/0008-5472.CAN-15-2564</mixed-citation></ref><ref id="B63"><label>63.</label><mixed-citation>Wu J., Wang M., Chen H. et al. The rare variant rs35356162 in UHRF1BP1 increases bladder cancer risk in han Chinese population. Front Oncol 2020;10:134. DOI: 10.3389/fonc.2020.00134</mixed-citation></ref><ref id="B64"><label>64.</label><mixed-citation>Chen M., Rothman N., Ye Y. et al. Pathway analysis of bladder cancer genome-wide association study identifies novel pathways involved in bladder cancer development. Genes Cancer 2016;7(7–8): 229–39. DOI: 10.18632/genesandcancer.113</mixed-citation></ref><ref id="B65"><label>65.</label><mixed-citation>García-Closas M., Malats N., Silverman D. et al. NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses. Lancet 2005;366(9486):649–59. DOI: 10.1016/S0140-6736(05)67137-1</mixed-citation></ref><ref id="B66"><label>66.</label><mixed-citation>Moore L.E., Baris D.R., Figueroa J.D. et al. GSTM1 null and NAT2 slow acetylation genotypes, smoking intensity and bladder cancer risk: results from the New England bladder cancer study and NAT2 meta-analysis. Carcinogenesis 2011;32(2):182–9. DOI: 10.1093/carcin/bgq223</mixed-citation></ref><ref id="B67"><label>67.</label><mixed-citation>Koutros S., Kiemeney L.A., Pal Choudhury P. et al. Genome-wide association study of bladder cancer reveals new biological and translational insights. Eur Urol 2023;84(1):127–37. DOI: 10.1016/j.eururo.2023.04.020</mixed-citation></ref><ref id="B68"><label>68.</label><mixed-citation>Cancer Genome Atlas Research Network. Comprehensive molecular characterization of urothelial bladder carcinoma. Nature 2014;507(7492):315–22. DOI: 10.1038/nature12965</mixed-citation></ref><ref id="B69"><label>69.</label><mixed-citation>Kourie H.R., Zouein J., Succar B. et al. Genetic polymorphisms involved in bladder cancer: a global review. Oncol Rev 2023;17:10603. DOI: 10.3389/or.2023.10603</mixed-citation></ref><ref id="B70"><label>70.</label><mixed-citation>Larsson S.C., Chen J., Ruan X. et al. Genome-wide association study and Mendelian randomization analyses reveal insights into bladder cancer etiology. JNCI Cancer Spectrum 2025;9(2):pkaf014. DOI: 10.1093/jncics/pkaf014</mixed-citation></ref></ref-list></back></article>
