<?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 pub-id-type="doi">10.25557/2073-7998.2024.07.3-14</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-2504</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>НАУЧНЫЙ ОБЗОР</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>REVIEW</subject></subj-group></article-categories><title-group><article-title>Наследственный рак предстательной железы</article-title><trans-title-group xml:lang="en"><trans-title>Hereditary prostate cancer</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>Михайленко</surname><given-names>Д. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Mikhaylenko</surname><given-names>D. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Михайленко Дмитрий Сергеевич</p><p>115522, г. Москва, ул. Москворечье, д. 1</p><p>119048, г. Москва, ул. Трубецкая, д. 8/2</p></bio><bio xml:lang="en"><p>Dmitry S. Mikhaylenko</p><p>1 Moskvorechie st., Moscow, 115522</p><p>8/2 Trubetskaya st., Moscow, 119048</p></bio><email xlink:type="simple">dimserg@mail.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>Залетаев</surname><given-names>Д. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Zaletayev</surname><given-names>D. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>115522, г. Москва, ул. Москворечье, д. 1</p></bio><bio xml:lang="en"><p>1 Moskvorechie st., Moscow, 115522</p></bio><xref ref-type="aff" rid="aff-2"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБНУ Медико-генетический научный центр имени академика Н.П. Бочкова; ФГАОУ ВО Первый Московский государственный медицинский университет имени И.М. Сеченова Министерства здравоохранения Российской Федерации (Сеченовский Университет)</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Centre for Medical Genetics; I.M. Sechenov First Moscow State Medical University (Sechenov University)</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ФГБНУ Медико-генетический научный центр имени академика Н.П. Бочкова</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Centre for Medical Genetics</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2024</year></pub-date><pub-date pub-type="epub"><day>10</day><month>10</month><year>2024</year></pub-date><volume>23</volume><issue>7</issue><fpage>3</fpage><lpage>14</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Михайленко Д.С., Залетаев Д.В., 2024</copyright-statement><copyright-year>2024</copyright-year><copyright-holder xml:lang="ru">Михайленко Д.С., Залетаев Д.В.</copyright-holder><copyright-holder xml:lang="en">Mikhaylenko D.S., Zaletayev D.V.</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/2504">https://www.medgen-journal.ru/jour/article/view/2504</self-uri><abstract><p>Рак предстательной железы (РПЖ) относят к частым онкоурологическим заболеваниям у мужчин. Часть случаев РПЖ можно рассматривать как клинические проявления наследственных онкологических синдромов – заболеваний, обусловленных герминальными мутациями и характеризующихся повышенным риском развития определенных типов опухолей. Риск РПЖ повышен при герминальных мутациях в генах BRCA1/2 и других генах системы репарации путем гомологичной рекомбинации, синдромах Линча, Ли-Фраумени и ряде других заболеваний. В настоящем обзоре систематизированы клинико-генетическая характеристика, методы диагностики, схемы динамического наблюдения  носителей герминальных мутаций и показания к назначению таргетной терапии при наследственном РПЖ. Обзор ориентирован на генетиков, онкологов и врачей смежных специальностей.</p></abstract><trans-abstract xml:lang="en"><p>Prostate cancer (PCa) is one of the most common oncological diseases in men. Some cases of PCa can be considered as clinical manifestations of hereditary cancer syndromes – diseases caused by germline mutations and characterized by an increased risk of developing certain types of tumors. The risk of PCa is increased in individuals with germline mutations in the BRCA1/2 genes and other homologous recombination repair genes (HRR), Lynch syndrome, Li-Fraumeni syndrome and a number of other hereditary diseases. We have described clinical and genetic characteristics, diagnostic methods, management and genetic counseling of patients with hereditary forms of PCa, as well as indications for targeted therapy. This review is aimed at clinical and laboratory geneticists, oncologists and related specialists.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>рак предстательной железы</kwd><kwd>наследственный онкологический синдром</kwd><kwd>мутация</kwd><kwd>секвенирование</kwd><kwd>динамическое наблюдение</kwd></kwd-group><kwd-group xml:lang="en"><kwd>prostate cancer</kwd><kwd>hereditary cancer syndrome</kwd><kwd>mutation</kwd><kwd>sequencing</kwd><kwd>active monitoring of mutation carriers</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Работа выполнена в рамках государственного задания Минобрнауки России для ФГБНУ «МГНЦ» на 2024 г</funding-statement><funding-statement xml:lang="en">The study was carried out according to the state assignment of the Ministry of Science and Higher Education of the Russian Federation for the Research Centre for Medical Genetics.</funding-statement></funding-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><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><mixed-citation xml:lang="en">Sostoyaniye onkologicheskoy pomoshchi naseleniyu Rossii v 2022 godu. Pod red. A.D. Kaprina, V.V. Starinskogo, A.O. Shakhzadovoy [The cancer care in Russia in 2022. Ed. by Kaprin A.D., Starinskiy V.V., Shahzadova A.O.] M.: PA Hertzen Moscow Research Oncological Institute branch of the NMRC of radiology at Ministry of Health of Russian Federation, 2022. 239 pp. (In Russ.)</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Шикеева А.А., Исаева Н.И., Васильева Е.Н. и др. Наследственные онкологические синдромы: клинические и генетические аспекты, диагностика. – М.: Лайвбук, 2022. 108 с.</mixed-citation><mixed-citation xml:lang="en">Shikeeva AA, Isaeva NI, Vasilyeva EN, et al. Nasledstvennyye onkologicheskiye sindromy: klinicheskiye i geneticheskiye aspekty, diagnostika [Hereditary tumor syndromes: clinical and genetic aspects, diagnostics].  M.: Layvbuk [M.: Livebook], 2022. 108 pp. (In Russ.)</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Сheng H.H., Sokolova A.O., Gulati R., et al. Internet-based germline genetic testing for men with metastatic prostate cancer. JCO Precis Oncol. 2023;7:e2200104. doi:10.1200/PO.22.00104.</mixed-citation><mixed-citation xml:lang="en">Сheng H.H., Sokolova A.O., Gulati R., et al. Internet-based germline genetic testing for men with metastatic prostate cancer. JCO Precis Oncol. 2023;7:e2200104. doi:10.1200/PO.22.00104.</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Vlaming M., Ausems M.G.E.M., Schijven G., et al. Men with metastatic prostate cancer carrying a pathogenic germline variant in breast cancer genes: disclosure of genetic test results to relatives. Fam Cancer. 2024;23(2):165-175. doi: 10.1007/s10689-024-00377-0.</mixed-citation><mixed-citation xml:lang="en">Vlaming M., Ausems M.G.E.M., Schijven G., et al. Men with metastatic prostate cancer carrying a pathogenic germline variant in breast cancer genes: disclosure of genetic test results to relatives. Fam Cancer. 2024;23(2):165-175. doi: 10.1007/s10689-024-00377-0.</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Pritchard C.C., Mateo J., Walsh M.F., et al. Inherited DNA-repair gene mutations in men with metastatic prostate cancer. N Engl J Med. 2016;375(5):443-53. doi: 10.1056/NEJMoa1603144.</mixed-citation><mixed-citation xml:lang="en">Pritchard C.C., Mateo J., Walsh M.F., et al. Inherited DNA-repair gene mutations in men with metastatic prostate cancer. N Engl J Med. 2016;375(5):443-53. doi: 10.1056/NEJMoa1603144.</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Pilarski R. The role of BRCA testing in hereditary pancreatic and prostate cancer families. Am Soc Clin Oncol Educ Book. 2019;39:79-86. doi: 10.1200/EDBK_238977.</mixed-citation><mixed-citation xml:lang="en">ilarski R. The role of BRCA testing in hereditary pancreatic and prostate cancer families. Am Soc Clin Oncol Educ Book. 2019;39:79-86. doi: 10.1200/EDBK_238977.</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Beebe-Dimmer J.L., Kapron A.L., Fraser A.M., et al. Risk of prostate cancer associated with familial and hereditary cancer syndromes. J Clin Oncol. 2020;38(16):1807-1813. doi: 10.1200/JCO.19.02808.</mixed-citation><mixed-citation xml:lang="en">Beebe-Dimmer J.L., Kapron A.L., Fraser A.M., et al. Risk of prostate cancer associated with familial and hereditary cancer syndromes. J Clin Oncol. 2020;38(16):1807-1813. doi: 10.1200/JCO.19.02808.</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">D’Elia G., Caliendo G., Tzioni M.M., et al. Increased risk of hereditary prostate cancer in Italian families with hereditary breast and ovarian cancer syndrome harboring mutations in BRCA and in other susceptibility genes. Genes (Basel). 2022;13(10):1692. doi: 10.3390/genes13101692.</mixed-citation><mixed-citation xml:lang="en">D’Elia G., Caliendo G., Tzioni M.M., et al. Increased risk of hereditary prostate cancer in Italian families with hereditary breast and ovarian cancer syndrome harboring mutations in BRCA and in other susceptibility genes. Genes (Basel). 2022;13(10):1692. doi: 10.3390/genes13101692.</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">Ni Raghallaigh H., Eeles R. Genetic predisposition to prostate cancer: an update. Fam Cancer. 2022;21(1):101-114. doi: 10.1007/s10689021-00227-3.</mixed-citation><mixed-citation xml:lang="en">Ni Raghallaigh H., Eeles R. Genetic predisposition to prostate cancer: an update. Fam Cancer. 2022;21(1):101-114. doi: 10.1007/s10689021-00227-3.</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">Olmos D., Lorente D., Alameda D., et al. Treatment patterns and outcomes in metastatic castration-resistant prostate cancer patients with and without somatic or germline alterations in homologous recombination repair genes. Ann Oncol. 2024;35(5):458-472. doi: 10.1016/j.annonc.2024.01.011.</mixed-citation><mixed-citation xml:lang="en">Olmos D., Lorente D., Alameda D., et al. Treatment patterns and outcomes in metastatic castration-resistant prostate cancer patients with and without somatic or germline alterations in homologous recombination repair genes. Ann Oncol. 2024;35(5):458-472. doi: 10.1016/j.annonc.2024.01.011.</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">Yang X., Leslie G., Doroszuk A., et al. Cancer risks associated with germline PALB2 pathogenic variants: an international study of 524 families. J Clin Oncol. 2020;38(7):674-685. doi: 10.1200/JCO.19.01907.</mixed-citation><mixed-citation xml:lang="en">Yang X., Leslie G., Doroszuk A., et al. Cancer risks associated with germline PALB2 pathogenic variants: an international study of 524 families. J Clin Oncol. 2020;38(7):674-685. doi: 10.1200/JCO.19.01907.</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">Wokołorczyk D., Kluźniak W., Stempa K., et al. PALB2 mutations and prostate cancer risk and survival. Br J Cancer. 2021;125(4):569575. doi: 10.1038/s41416-021-01410-0.</mixed-citation><mixed-citation xml:lang="en">Wokołorczyk D., Kluźniak W., Stempa K., et al. PALB2 mutations and prostate cancer risk and survival. Br J Cancer. 2021;125(4):569575. doi: 10.1038/s41416-021-01410-0.</mixed-citation></citation-alternatives></ref><ref id="cit13"><label>13</label><citation-alternatives><mixed-citation xml:lang="ru">Stempa K., Wokołorczyk D., Kluźniak W., et al. Do BARD1 mutations confer an elevated risk of prostate cancer? Cancers (Basel). 2021;13(21):5464. doi: 10.3390/cancers13215464.</mixed-citation><mixed-citation xml:lang="en">Stempa K., Wokołorczyk D., Kluźniak W., et al. Do BARD1 mutations confer an elevated risk of prostate cancer? Cancers (Basel). 2021;13(21):5464. doi: 10.3390/cancers13215464.</mixed-citation></citation-alternatives></ref><ref id="cit14"><label>14</label><citation-alternatives><mixed-citation xml:lang="ru">Vietri M.T., D’Elia G., Caliendo G., et al. Hereditary prostate cancer: genes related, target therapy and prevention. Int J Mol Sci. 2021;22(7):3753. doi: 10.3390/ijms22073753.</mixed-citation><mixed-citation xml:lang="en">Vietri M.T., D’Elia G., Caliendo G., et al. Hereditary prostate cancer: genes related, target therapy and prevention. Int J Mol Sci. 2021;22(7):3753. doi: 10.3390/ijms22073753.</mixed-citation></citation-alternatives></ref><ref id="cit15"><label>15</label><citation-alternatives><mixed-citation xml:lang="ru">Шегай П.В., Шаталов П.А., Шинкаркина А.П. и др. Под ред. акад. РАН А.Д. Каприна. Молекулярно-генетические исследования в онкологии. Учебно-методическое пособие. Обнинск: 2023. ФГБУ «НМИЦ радиологии» Минздрава России. – 82 с.</mixed-citation><mixed-citation xml:lang="en">Shegay P.V., Shatalov P.A., Shinkarkina A.P. et al. Ed. by Kaprin A.D. Molekulyarno-geneticheskiye issledovaniya v onkologii. Uchebno-metodicheskoye posobiye [Molecular genetic tests in oncology]. Obninsk: 2023. National Medical Research Center of Radiology, Ministry of Health. 82 pp. (In Russ.).</mixed-citation></citation-alternatives></ref><ref id="cit16"><label>16</label><citation-alternatives><mixed-citation xml:lang="ru">Brandao A., Paulo P., Maia S., et al. The CHEK2 variant c.349A&gt;G is associated with prostate cancer risk and carriers share a common ancestor. Cancers (Basel). 2020;12(11):3254. doi: 10.3390/cancers12113254.</mixed-citation><mixed-citation xml:lang="en">Brandao A., Paulo P., Maia S., et al. The CHEK2 variant c.349A&gt;G is associated with prostate cancer risk and carriers share a common ancestor. Cancers (Basel). 2020;12(11):3254. doi: 10.3390/cancers12113254.</mixed-citation></citation-alternatives></ref><ref id="cit17"><label>17</label><citation-alternatives><mixed-citation xml:lang="ru">Richards S., Aziz N., Bale S., et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):40524. doi: 10.1038/gim.2015.30.</mixed-citation><mixed-citation xml:lang="en">Richards S., Aziz N., Bale S., et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):40524. doi: 10.1038/gim.2015.30.</mixed-citation></citation-alternatives></ref><ref id="cit18"><label>18</label><citation-alternatives><mixed-citation xml:lang="ru">Рыжкова О.П., Кардымон О.Л., Прохорчук Е.Б. и др. Руководство по интерпретации данных последовательности ДНК человека, полученных методами массового параллельного секвенирования (MPS) (редакция 2018, версия 2). Медицинская генетика 2019; 18(2): 3-23. doi: 10.25557/2073-7998.2019.02.3-23.</mixed-citation><mixed-citation xml:lang="en">Ryzhkova O.P., Kardymon O.L., Prohorchuk E.B., et al. Rukovodstvo po interpretatsii dannykh posledovatel’nosti DNK cheloveka, poluchennykh metodami massovogo parallel’nogo sekvenirovaniya (MPS) (redaktsiya 2018, versiya 2) [Guidelines for the interpretation of massive parallel sequencing variants (update 2018, v2)]. Meditsinskaya genetika [Medical Genetics]. 2019;18(2):3-23. (In Russ.) https://doi.org/10.25557/2073-7998.2019.02.3-23</mixed-citation></citation-alternatives></ref><ref id="cit19"><label>19</label><citation-alternatives><mixed-citation xml:lang="ru">Garrett A., Durkie M., Callaway A., et al. Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations. J Med Genet. 2021;58(5):297304. doi: 10.1136/jmedgenet-2020-107248.</mixed-citation><mixed-citation xml:lang="en">Garrett A., Durkie M., Callaway A., et al. Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations. J Med Genet. 2021;58(5):297304. doi: 10.1136/jmedgenet-2020-107248.</mixed-citation></citation-alternatives></ref><ref id="cit20"><label>20</label><citation-alternatives><mixed-citation xml:lang="ru">CanVIG-UK specific recommendations on individual genes involved in carcinogenesis [https://www.cangene-canvaruk.org/gene-specific-recommendations] (accessed 09.06.2024)</mixed-citation><mixed-citation xml:lang="en">CanVIG-UK specific recommendations on individual genes involved in carcinogenesis [https://www.cangene-canvaruk.org/gene-specific-recommendations] (accessed 09.06.2024)</mixed-citation></citation-alternatives></ref><ref id="cit21"><label>21</label><citation-alternatives><mixed-citation xml:lang="ru">Hanson H., Astiazaran-Symonds E., Amendola L.M., et al. Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023;25(10):100870. doi: 10.1016/j.gim.2023.100870.</mixed-citation><mixed-citation xml:lang="en">Hanson H., Astiazaran-Symonds E., Amendola L.M., et al. Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023;25(10):100870. doi: 10.1016/j.gim.2023.100870.</mixed-citation></citation-alternatives></ref><ref id="cit22"><label>22</label><citation-alternatives><mixed-citation xml:lang="ru">Bhattacharya P., McHugh T.W. Lynch Syndrome. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2023 Jan.</mixed-citation><mixed-citation xml:lang="en">Bhattacharya P., McHugh T.W. Lynch Syndrome. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2023 Jan.</mixed-citation></citation-alternatives></ref><ref id="cit23"><label>23</label><citation-alternatives><mixed-citation xml:lang="ru">Цуканов А.С., Кашников В.Н., Пикунов Д.Ю., Чернышов С.В. Синдром Линча. Диагностика, мониторинг и лечение. Учебно-методическое пособие. М.: Изд-во Боргес. 2021. 40 с.</mixed-citation><mixed-citation xml:lang="en">Tsukanov A.S., Kashnikov V.N., Pikunov D.Y., Chernyshov S.V. Sindrom Lincha. Diagnostika, monitoring i lecheniye. Uchebno-metodicheskoye posobiye [Lynch syndrome: diagnostics, management and treatment]. Moscow: Borges Publishing. 2021. 40 pp. (In Russ.).</mixed-citation></citation-alternatives></ref><ref id="cit24"><label>24</label><citation-alternatives><mixed-citation xml:lang="ru">Цуканов А.С., Демидова И.А., Цаур Г.А. и др. Диагностика синдрома Линча у онкологических пациентов: позиция Межрегиональной организации молекулярных генетиков в онкологии и онкогематологии. Вопросы онкологии. 2023;69(1):7–14. doi:10.37469/0507-3758-2023-69-1-7-14.</mixed-citation><mixed-citation xml:lang="en">Tsukanov A.S., Demidova I.A., Tsaur G.A. et al. Diagnostika sindroma Lincha u onkologicheskikh patsiyentov: pozitsiya Mezhregional’noy organizatsii molekulyarnykh genetikov v onkologii i onkogematologii [Diagnosis of Lynch syndrome in cancer patients: the position of the Interregional Organization of Molecular Geneticists in Oncology and Oncohematology]. Voprosy Onkologii [Issues of oncology]. 2023;69(1):7-14. doi:  10.37469/0507-3758-2023-69-1-7-14. (In Russ.).</mixed-citation></citation-alternatives></ref><ref id="cit25"><label>25</label><citation-alternatives><mixed-citation xml:lang="ru">Pritzlaff M., Tian Y., Reineke P., et al. Diagnosing hereditary cancer predisposition in men with prostate cancer. Genet Med. 2020;22(9):1517-1523. doi: 10.1038/s41436-020-0830-5.</mixed-citation><mixed-citation xml:lang="en">Pritzlaff M., Tian Y., Reineke P., et al. Diagnosing hereditary cancer predisposition in men with prostate cancer. Genet Med. 2020;22(9):1517-1523. doi: 10.1038/s41436-020-0830-5.</mixed-citation></citation-alternatives></ref><ref id="cit26"><label>26</label><citation-alternatives><mixed-citation xml:lang="ru">Amadou A., Achatz M.I.W., Hainaut P. Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome. Curr Opin Oncol. 2018;30(1):23-29. doi: 10.1097/CCO.0000000000000423.</mixed-citation><mixed-citation xml:lang="en">Amadou A., Achatz M.I.W., Hainaut P. Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome. Curr Opin Oncol. 2018;30(1):23-29. doi: 10.1097/CCO.0000000000000423.</mixed-citation></citation-alternatives></ref><ref id="cit27"><label>27</label><citation-alternatives><mixed-citation xml:lang="ru">Maxwell K.N., Cheng H.H., Powers J., et al. Inherited TP53 variants and risk of prostate cancer. Eur Urol. 2022;81(3):243-250. doi: 10.1016/j.eururo.2021.10.036.</mixed-citation><mixed-citation xml:lang="en">Maxwell K.N., Cheng H.H., Powers J., et al. Inherited TP53 variants and risk of prostate cancer. Eur Urol. 2022;81(3):243-250. doi: 10.1016/j.eururo.2021.10.036.</mixed-citation></citation-alternatives></ref><ref id="cit28"><label>28</label><citation-alternatives><mixed-citation xml:lang="ru">Heise M., Jarzemski P., Bąk A., et al. G84E germline mutation in HOXB13 gene is associated with increased prostate cancer risk in Polish men. Pol J Pathol. 2019;70(2):127-133. doi: 10.5114/pjp.2019.87103.</mixed-citation><mixed-citation xml:lang="en">Heise M., Jarzemski P., Bąk A., et al. G84E germline mutation in HOXB13 gene is associated with increased prostate cancer risk in Polish men. Pol J Pathol. 2019;70(2):127-133. doi: 10.5114/pjp.2019.87103.</mixed-citation></citation-alternatives></ref><ref id="cit29"><label>29</label><citation-alternatives><mixed-citation xml:lang="ru">Schaid D.J., McDonnell S.K., FitzGerald L.M., et al. Two-stage study of familial prostate cancer by whole-exome sequencing and custom capture identifies 10 novel genes associated with the risk of prostate cancer. Eur Urol. 2021;79(3):353-361. doi: 10.1016/j.eururo.2020.07.038.</mixed-citation><mixed-citation xml:lang="en">Schaid D.J., McDonnell S.K., FitzGerald L.M., et al. Two-stage study of familial prostate cancer by whole-exome sequencing and custom capture identifies 10 novel genes associated with the risk of prostate cancer. Eur Urol. 2021;79(3):353-361. doi: 10.1016/j.eururo.2020.07.038.</mixed-citation></citation-alternatives></ref><ref id="cit30"><label>30</label><citation-alternatives><mixed-citation xml:lang="ru">Wokolorczyk D., Kluzniak W., Huzarski T., et al. Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland. Int J Cancer. 2020;147(10):2793-2800. doi: 10.1002/ijc.33272.</mixed-citation><mixed-citation xml:lang="en">Wokolorczyk D., Kluzniak W., Huzarski T., et al. Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland. Int J Cancer. 2020;147(10):2793-2800. doi: 10.1002/ijc.33272.</mixed-citation></citation-alternatives></ref><ref id="cit31"><label>31</label><citation-alternatives><mixed-citation xml:lang="ru">Dupont W.D., Breyer J.P., Johnson S.H., et al. Prostate cancer risk variants of the HOXB genetic locus. Sci Rep. 2021;11(1):11385. doi: 10.1038/s41598-021-89399-7.</mixed-citation><mixed-citation xml:lang="en">Dupont W.D., Breyer J.P., Johnson S.H., et al. Prostate cancer risk variants of the HOXB genetic locus. Sci Rep. 2021;11(1):11385. doi: 10.1038/s41598-021-89399-7.</mixed-citation></citation-alternatives></ref><ref id="cit32"><label>32</label><citation-alternatives><mixed-citation xml:lang="ru">Dupont W.D., Breyer J.P., Plummer W.D., et al. 8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer. Nat Commun. 2020 ;11(1):1523. doi: 10.1038/s41467-020-15122-1.</mixed-citation><mixed-citation xml:lang="en">Dupont W.D., Breyer J.P., Plummer W.D., et al. 8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer. Nat Commun. 2020 ;11(1):1523. doi: 10.1038/s41467-02015122-1.</mixed-citation></citation-alternatives></ref><ref id="cit33"><label>33</label><citation-alternatives><mixed-citation xml:lang="ru">NCCN Guidelines. v.4.2024 Prostate Cancer. [https://www.nccn.org/professionals/physician_gls/pdf/prostate.pdf] (дата обращения 05.06.2024).</mixed-citation><mixed-citation xml:lang="en">NCCN Guidelines. v.4.2024 Prostate Cancer. [https://www.nccn.org/professionals/physician_gls/pdf/prostate.pdf] (accessed 05.06.2024).</mixed-citation></citation-alternatives></ref><ref id="cit34"><label>34</label><citation-alternatives><mixed-citation xml:lang="ru">NCCN Guidelines. v.3.2024 Genetic / Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. [https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf] (дата обращения 05.06.2024).</mixed-citation><mixed-citation xml:lang="en">NCCN Guidelines. v.3.2024 Genetic / Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. [https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf] (accessed 05.06.2024).</mixed-citation></citation-alternatives></ref><ref id="cit35"><label>35</label><citation-alternatives><mixed-citation xml:lang="ru">NCCN Guidelines. v.2.2023 Genetic / Familial High-Risk Assessment: Colorectal. [https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf] (дата обращения 05.06.2024).</mixed-citation><mixed-citation xml:lang="en">NCCN Guidelines. v.2.2023 Genetic / Familial High-Risk Assessment: Colorectal. [https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf] (accessed 05.06.2024).</mixed-citation></citation-alternatives></ref><ref id="cit36"><label>36</label><citation-alternatives><mixed-citation xml:lang="ru">Макарова М.В., Немцова М.В., Черневский Д.К. и др. Медико-генетическое консультирование пациентов с выявленными клинически значимыми генетическими вариантами, ассоциированными с наследственными опухолевыми синдромами, и их родственников. Учебно-методическое пособие. М.: 2023. Издво Триумф. 71 с. ISBN 978-5-94472-150-1. doi: 10.29039/978-594472-150-1-08-2023.</mixed-citation><mixed-citation xml:lang="en">Makarova M.V., Nemtsova M.V., Chernevsky D.K. et al. Mediko-geneticheskoye konsul’tirovaniye patsiyentov s vyyavlennymi klinicheski znachimymi geneticheskimi variantami, assotsiirovannymi s nasledstvennymi opukholevymi sindromami, i ikh rodstvennikov. Uchebno-metodicheskoye posobiye [Medical genetic counseling of patients with identified clinically significant genetic variants associated with hereditary tumor syndromes and their relatives]. M.: 2023. Triumph Publishing House. 71 pp. (In Russ.).</mixed-citation></citation-alternatives></ref><ref id="cit37"><label>37</label><citation-alternatives><mixed-citation xml:lang="ru">Хатьков И.Е., Жукова Л.Г., Данишевич А.М. и др. Рекомендации по медицинскому сопровождению пациентов с верифицированными (подтвержденными) наследственными опухолевыми синдромами и их родственников с выявленной предрасположенностью к развитию онкологических заболеваний. М.: ГБУЗ МКНЦ им. А.С. Логинова ДЗМ, 2022. -27 с.</mixed-citation><mixed-citation xml:lang="en">Khatkov I.E., Zhukova L.G., Danishevich A.M. et al. Rekomendatsii po meditsinskomu soprovozhdeniyu patsiyentov s verifitsirovannymi (podtverzhdennymi) nasledstvennymi opukholevymi sindromami i ikh rodstvennikov s vyyavlennoy predraspolozhennost’yu k razvitiyu onkologicheskikh zabolevaniy [Recommendations for medical counseling of patients with verified (confirmed) hereditary tumor syndromes and their relatives with an identified predisposition to the development of cancer]. M.: 2022. SBOM A.S. Loginova MCSC DMM, 27 pp. (In Russ.).</mixed-citation></citation-alternatives></ref><ref id="cit38"><label>38</label><citation-alternatives><mixed-citation xml:lang="ru">Gan S., Guo Z., Zou Q., et al. Diagnosis accuracy of PCA3 level in patients with prostate cancer: a systematic review with meta-analysis. Int Braz J Urol. 2020;46(5):786-793. doi: 10.1590/S1677-5538.IBJU.2019.0521.</mixed-citation><mixed-citation xml:lang="en">Gan S., Guo Z., Zou Q., et al. Diagnosis accuracy of PCA3 level in patients with prostate cancer: a systematic review with meta-analysis. Int Braz J Urol. 2020;46(5):786-793. doi: 10.1590/S1677-5538.IBJU.2019.0521.</mixed-citation></citation-alternatives></ref><ref id="cit39"><label>39</label><citation-alternatives><mixed-citation xml:lang="ru">Barber N., Ali A., editors. Urologic Cancers. Chapter 15: The role of family history and germline genetics in prostate cancer disease profile and screening (199-214 pp.). Brisbane (AU): Exon Publications; 2022. ISBN: 978-0-6453320-5-6.</mixed-citation><mixed-citation xml:lang="en">Barber N., Ali A., editors. Urologic Cancers. Chapter 15: The role of family history and germline genetics in prostate cancer disease profile and screening (199-214 pp.). Brisbane (AU): Exon Publications; 2022. ISBN: 978-0-6453320-5-6.</mixed-citation></citation-alternatives></ref><ref id="cit40"><label>40</label><citation-alternatives><mixed-citation xml:lang="ru">Михайленко Д.С. Молекулярная генетика рака предстательной железы / Рак простаты: от протеомики и геномики к хирургии. Под ред. Коган М.И. и Пушкарь Д.Ю. РнД; Изд-во ЮНЦ РАН, 2017. 288 с.</mixed-citation><mixed-citation xml:lang="en">Mikhaylenko D.S. Molekulyarnaya genetika raka predstatel’noy zhelezy. V Rak prostaty: ot proteomiki i genomiki k khirurgii. Pod red. Kogan M.I. i Pushkar’ D.YU. [Molecular genetics of prostate cancer. In Prostate cancer: from proteomics and genomics to surgery. Ed. by Kogan M.I., Pushkar D.Y.]. Rostov-on-Don; South Science Center of RAS Publishing, 2017. 288 pp.  (In Russ.)</mixed-citation></citation-alternatives></ref><ref id="cit41"><label>41</label><citation-alternatives><mixed-citation xml:lang="ru">Horak P., Weischenfeldt J., von Amsberg G., et al. Response to olaparib in a PALB2 germline mutated prostate cancer and genetic events associated with resistance. Cold Spring Harb Mol Case Stud. 2019;5(2):a003657. doi: 10.1101/mcs.a003657. PMID: 30833416.</mixed-citation><mixed-citation xml:lang="en">Horak P., Weischenfeldt J., von Amsberg G., et al. Response to olaparib in a PALB2 germline mutated prostate cancer and genetic events associated with resistance. Cold Spring Harb Mol Case Stud. 2019;5(2):a003657. doi: 10.1101/mcs.a003657. PMID: 30833416.</mixed-citation></citation-alternatives></ref><ref id="cit42"><label>42</label><citation-alternatives><mixed-citation xml:lang="ru">Dillon KM, Bekele RT, Sztupinszki Z, et al. PALB2 or BARD1 loss confers homologous recombination deficiency and PARP inhibitor sensitivity in prostate cancer. NPJ Precis Oncol. 2022;6(1):49. doi: 10.1038/s41698-022-00291-7.</mixed-citation><mixed-citation xml:lang="en">Dillon KM, Bekele RT, Sztupinszki Z, et al. PALB2 or BARD1 loss confers homologous recombination deficiency and PARP inhibitor sensitivity in prostate cancer. NPJ Precis Oncol. 2022;6(1):49. doi: 10.1038/s41698-022-00291-7.</mixed-citation></citation-alternatives></ref><ref id="cit43"><label>43</label><citation-alternatives><mixed-citation xml:lang="ru">Militaru F.C., Militaru V., Crisan N., et al. Molecular basis and therapeutic targets in prostate cancer: A comprehensive review. Biomol Biomed. 2023;23(5):760-771. doi: 10.17305/bb.2023.8782.</mixed-citation><mixed-citation xml:lang="en">Militaru F.C., Militaru V., Crisan N., et al. Molecular basis and therapeutic targets in prostate cancer: A comprehensive review. Biomol Biomed. 2023;23(5):760-771. doi: 10.17305/bb.2023.8782.</mixed-citation></citation-alternatives></ref><ref id="cit44"><label>44</label><citation-alternatives><mixed-citation xml:lang="ru">Carreira S., Porta N., Arce-Gallego S., et al. Biomarkers associating with PARP inhibitor benefit in prostate cancer in the TOPARP-B trial. Cancer Discov. 2021;11(11):2812-2827. doi: 10.1158/2159-8290.CD21-0007.</mixed-citation><mixed-citation xml:lang="en">Carreira S., Porta N., Arce-Gallego S., et al. Biomarkers associating with PARP inhibitor benefit in prostate cancer in the TOPARP-B trial. Cancer Discov. 2021;11(11):2812-2827. doi: 10.1158/2159-8290. CD-21-0007.</mixed-citation></citation-alternatives></ref><ref id="cit45"><label>45</label><citation-alternatives><mixed-citation xml:lang="ru">Клинические рекомендации. Рак предстательной железы. ID:12. https://roou.ru/clinical-guidelines-rpj2021/ (дата обращения 05.06.2024).</mixed-citation><mixed-citation xml:lang="en">Clinical Guidelines of the Russian Ministry of Health. Prostate cancer. ID:12. https://roou.ru/clinical-guidelines-rpj2021 (accessed 05.06.2024). (In Russ.)].</mixed-citation></citation-alternatives></ref><ref id="cit46"><label>46</label><citation-alternatives><mixed-citation xml:lang="ru">Bugoye F.C., Torrorey-Sawe R., Biegon R., et al. Mutational spectrum of DNA damage and mismatch repair genes in prostate cancer. Front Genet. 2023;14:1231536. doi: 10.3389/fgene.2023.1231536.</mixed-citation><mixed-citation xml:lang="en">Bugoye F.C., Torrorey-Sawe R., Biegon R., et al. Mutational spectrum of DNA damage and mismatch repair genes in prostate cancer. Front Genet. 2023;14:1231536. doi: 10.3389/fgene.2023.1231536.</mixed-citation></citation-alternatives></ref><ref id="cit47"><label>47</label><citation-alternatives><mixed-citation xml:lang="ru">Hougen H.Y., Graf R.P., Li G., et al. Clinical and genomic factors associated with greater tumor mutational burden in prostate cancer. Eur Urol Open Sci. 2023;55:45-49. doi: 10.1016/j.euros.2023.08.001.</mixed-citation><mixed-citation xml:lang="en">Hougen H.Y., Graf R.P., Li G., et al. Clinical and genomic factors associated with greater tumor mutational burden in prostate cancer. Eur Urol Open Sci. 2023;55:45-49. doi: 10.1016/j.euros.2023.08.001.</mixed-citation></citation-alternatives></ref><ref id="cit48"><label>48</label><citation-alternatives><mixed-citation xml:lang="ru">Truong H., Breen K., Nandakumar S., et al. Gene-based confirmatory germline testing following tumor-only sequencing of prostate cancer. Eur Urol. 2023;83(1):29-38. doi: 10.1016/j.eururo.2022.08.028.</mixed-citation><mixed-citation xml:lang="en">Truong H., Breen K., Nandakumar S., et al. Gene-based confirmatory germline testing following tumor-only sequencing of prostate cancer. Eur Urol. 2023;83(1):29-38. doi: 10.1016/j.eururo.2022.08.028.</mixed-citation></citation-alternatives></ref><ref id="cit49"><label>49</label><citation-alternatives><mixed-citation xml:lang="ru">Zhu J., Tucker M., Marin D., et al. Clinical utility of FoundationOne tissue molecular profiling in men with metastatic prostate cancer. Urol Oncol. 2019;37(11):813.e1-813.e9. doi: 10.1016/j.urolonc.2019.06.015.</mixed-citation><mixed-citation xml:lang="en">Zhu J., Tucker M., Marin D., et al. Clinical utility of FoundationOne tissue molecular profiling in men with metastatic prostate cancer. Urol Oncol. 2019;37(11):813.e1-813.e9. doi: 10.1016/j.urolonc.2019.06.015.</mixed-citation></citation-alternatives></ref><ref id="cit50"><label>50</label><citation-alternatives><mixed-citation xml:lang="ru">Zurita A.J., Graf R.P., Villacampa G., et al. Genomic biomarkers and genome-wide loss-of-heterozygosity scores in metastatic prostate cancer following progression on androgen-targeting therapies. JCO Precis Oncol. 2022;6:e2200195. doi: 10.1200/PO.22.00195.</mixed-citation><mixed-citation xml:lang="en">Zurita A.J., Graf R.P., Villacampa G., et al. Genomic biomarkers and genome-wide loss-of-heterozygosity scores in metastatic prostate cancer following progression on androgen-targeting therapies. JCO Precis Oncol. 2022;6:e2200195. doi: 10.1200/PO.22.00195.</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>
