DOI: 10.18413/2658-6533-2021-7-4-0-2

Рак яичников в составе наследственных онкологических синдромов (обзор)

Яна Валерьевна Валова
Эльвира Тагировна Мингажева
Дарья Симоновна Прокофьева
Руслан Радисович Валиев
Альфия Хаматьяновна Нургалиева
Эльза Камилевна Хуснутдинова

Актуальность: Наследственные формы рака яичников (РЯ) составляют более одной пятой случаев злокачественных новообразований данной локализации. Открытие новых молекулярно-генетических предикторов развития РЯ привело к совершенствованию системы ранней диагностики и терапевтических подходов к лечению, что позволило значительно сократить смертность от данной онкопатологии. Однако существующие системы скрининга охватывают лишь небольшой спектр патогенных вариантов, из-за чего их прогностическая значимость сильно снижается. Цель исследования:На основании изучения данных современной литературы рассмотреть представленность рака яичников в составе наследственных сидромов и оценить вклад генетических факторов в развитие наследственных форм рака яичников. Материалы и методы:Анализ литературных данных проводился по ключевым словам: наследственный рак яичников, синдром рака груди и яичников, синдром Коудена, синдром Линча, синдром Неймегена, атаксия-телеангиэктазия, анемия Фанкони, синдром Пейтца-Егерса за период 1981-2021 гг. в базах данных PubMed, PMC, eLibrary. Результаты:Синдром рака молочной железы и яичников является наиболее распространенной формой семейного РЯ, который в 65–85% случаев обусловлен герминальными мутациями в генах BRCA1/BRCA2. Однако на сегодняшний день известно еще по крайней мере шесть опухолевых синдромов, связанных с наследственным РЯ и обусловленных мутациями в других генах-супрессорах и онкогенах, включая гены MSH6,MLH1,MSH2 (синдром Линча), NBN (синдом Неймегена), АТМ (атаксия-телеангиэктазия), STK11 (синдром Пейтца-Егерса), RAD51С, RAD51D, BRIP1, PALB (анемия Фанкони), PTEN (синдром Коудена). В совокупности герминальные мутации в вышеупомянутых генах ответственны примерно за 15-20% случаев наследственных форм РЯ. Тем не менее спектр патогенных вариантов в этих генах и их вклад в развитие РЯ изучен недостаточно, что усложняет разработку молекулярных диагностических стратегий. Заключение:Разработка и внедрение новейших технологий секвенирования позволили существенно расширить знания о молекулярных механизмах опухолеобразования яичников и выявить множество новых молекулярных маркеров этого процесса. Однако вклад выявленных вариантов в формирование предрасположенности к РЯ изучен недостаточно и требует проведения дальнейших исследований.

Ключевые слова: наследственный рак яичников, синдром рака молочной железы и яичников, синдром Коудена, синдром Линча, синдром Неймегена, атаксия-телеангиэктазия, анемия Фанкони, синдром Пейтца-Егерса.

Количество просмотров: 1223 (смотреть статистику)

Количество скачиваний: 2619

Полный текст (HTML)Полный текст (PDF)К списку статей

Информация для цитирования:

Валова ЯВ, Мингажева ЭТ, Прокофьева ДС, и др. Рак яичников в составе наследственных онкологических синдромов (обзор). Научные результаты биомедицинских исследований. 2021;7(4): 330-362. [Valova YV, Mingazheva ET, Prokofieva DS, et al. Ovarian cancer as part of hereditary cancer syndromes (review). Research Results in Biomedicine. 2021;7(4): 330-362. Russian.]. DOI: 10.18413/2658-6533-2021-7-4-0-2

Комментарии
Список литературы
Благодарности

Пока никто не оставил комментариев к этой публикации.
Вы можете быть первым.

Allemani C, Weir HK, Carreira H, et al. Global surveillance of cancer survival 1995–2009: analysis of individual data for 25 676 887 patients from 279 population-based registries in 67 countries (CONCORD-2). The Lancet. 2015;385(9972):977-1010. DOI: https://doi.org/10.1016/S0140-6736(14)62038-9
Kaprin АD, Starinskogo VV, Shahzadov АО. The state of cancer care for the population of Russia in 2019. М.: МNIOI P.А. Gerzena; 2020.
Жорданиа КИ, Калиничева ЕВ, Моисеев АА. Рак яичников: эпидемиология, морфология и гистогенез. Онкогинекология. 2017;3:26-32.
Хансон КП, Имянитов ЕН. Молекулярная генетика рака яичников. Практическая онкология. 2000;1(4):3-6.
Liu L, Hao X, Song Z, et al. Correlation between family history and characteristics of breast cancer. Scientific Reports. 2021;11(1):1-12. https://doi.org/10.1038/s41598-021-85899-8
Toss A, Tomasello C, Razzaboni E, et al. Hereditary ovarian cancer: not only BRCA 1 and 2 genes. BioMed Research International. 2015;2015:341723. DOI: https://doi.org/10.1155/2015/341723
Angeli D, Salvi S, Tedaldi G. Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test? International Journal of Molecular Sciences. 2020;21(3):1128. DOI: https://doi.org/10.3390/ijms21031128
Лаптиев СА, Корженевская МА, Соколенко АП, и др. Медико-генетическое консультирование при наследственных формах рака молочной железы и рака яичников. Ученые записки Санкт-Петербургского государственного медицинского университета имени академика И.П. Павлова. 2018;25(2):7-18. DOI: https://doi.org/10.24884/1607-4181-2018-25-2-7-18
Никитин АГ, Бровкина ОИ, Ходырев ДС, и др. Опыт создания публичной базы данных мутаций oncoBRCA: биоинформационные проблемы и решения. Клиническая практика. 2020;11(1):21-29. DOI: https://doi.org/10.17816/clinpract25860
Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA - Journal of the American Medical Association. 2017;317(23):2402-2416. DOI: 10.1001/jama.2017.7112
Miki Y, Swensen J, Shattuck-Eidens D, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994;266(5182):66-71. DOI: https://doi.org/10.1126/science.7545954
Wooster R, Bignell G, Lancaster J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995;378(6559):789-792. DOI: https://doi.org/10.1038/378789a0
Gudmundsdottir K, Ashworth A. The roles of BRCA1 and BRCA2 and associated proteins in the maintenance of genomic stability. Oncogene. 2006;25(43):5864-5874. DOI: https://doi.org/10.1038/sj.onc.1209874
Golmard L, Delnatte C, Laugé A, et al. Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations. Oncogene. 2016;35(10):1324-1327. DOI: https://doi.org/10.1038/onc.2015.181
Paluch-Shimon S, Cardoso F, Sessa C, et al. Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening. Annals of Oncology. 2016;27:v103-v110. DOI: https://doi.org/10.1093/annonc/mdw327
Rebbeck TR, Friebel TM, Friedman E, et al. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Human Mutation. 2018;39(5):593-620. DOI: https://doi.org/10.1002/humu.23406
Heramb C, Wangensteen T, Grindedal EM, et al. BRCA1 and BRCA2 mutation spectrum–an update on mutation distribution in a large cancer genetics clinic in Norway. Hereditary Cancer in Clinical Practice. 2018;16(1):1-15. DOI: https://doi.org/10.1186/s13053-017-0085-6
Ferla R, Calo V, Cascio S, et al. Founder mutations in BRCA1 and BRCA2 genes. Annals of Oncology. 2007;18:93-98. DOI: https://doi.org/10.1093/annonc/mdm234
Thorlacius S, Olafsdottir G, Tryggvadottir L, et al. A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nature Genetics. 1996;13(1):117-119. DOI: https://doi.org/10.1038/ng0596-117
Oros KK, Ghadirian P, Maugard CM, et al. Application of BRCA1 and BRCA2 mutation carrier prediction models in breast and/or ovarian cancer families of French Canadian descent. Clinical Genetics. 2006;70(4):320-329. DOI: https://doi.org/10.1111/j.1399-0004.2006.00673.x
Tonin PN, Mes‐Masson AM, Narod SA, et al. Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history. Clinical Genetics. 1999;55(5):318-324. DOI: https://doi.org/10.1034/j.1399-0004.1999.550504.x
Gorski B, Byrski T, Huzarski T, et al. Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. American Journal of Human Genetics. 2000;66(6):1963-1968. DOI: https://doi.org/10.1086/302922
Hamel N, Feng BJ, Foretova L, et al. On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations. European Journal of Human Genetics. 2011;19(3):300-6. DOI: https://doi.org/10.1038/ejhg.2010.203
Villarreal‐Garza C, Alvarez‐Gómez RM, Pérez‐Plasencia C, et al. Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico. Cancer. 2015;121(3):372-378. DOI: https://doi.org/10.1002/cncr.29058
Ramus SJ, Kote-Jarai Z, Friedman LS, et al. Analysis of BRCA1 and BRCA2 mutations in Hungarian families with breast or breast-ovarian cancer. American Journal of Human Genetics. 1997;60(5):1242.
Van der Looij M, Szabo C, Besznyak I, et al. Prevalence of founder BRCA1 and BRCA2 mutations among breast and ovarian cancer patients in Hungary. International Journal of Cancer. 2000;86(5):737-740. DOI: https://doi.org/10.1002/(SICI)1097-0215(20000601)86:5<737::AID-IJC21>3.0.CO;2-1
Бермишева МА, Богданова НВ, Гилязова ИР, и др. Этнические особенности формирования генетической предрасположенности к развитию рака молочной железы. Генетика. 2018;54(2):233-242. DOI: https://doi.org/10.7868/S0016675818020042
Фаисханова РР. Особенности клинического течения и молекулярно-генетическая характеристика наследственного рака яичников [диссертация]. Москва; 2021.
Sokolenko AP, Sokolova TN, Ni VI, et al. Frequency and spectrum of founder and non-founder BRCA1 and BRCA2 mutations in a large series of Russian breast cancer and ovarian cancer patients. Breast Cancer Research and Treatment. 2020;184(1):229-235. DOI: https://doi.org/10.1007/s10549-020-05827-8
Богомолова ОА, Шатова ЮС, Верескунова МИ, и др. Герминальные мутации в генах BRCA1 и BRCA2 у пациенток Юга России с клиническими признаками наследственного рака молочной железы. Современные проблемы науки и образования. 2017;5:114-114.
Пржедецкий ЮВ, Водолажский ДИ, Шатова ЮС, и др. ВRCA-мутации у больных с клиническими признаками наследственного рака молочной железы в Южном федеральном округе. Злокачественные опухоли. 2015;4-2(16):121-122.
Бровкина ОИ, Гордиев МГ, Еникеев РФ, и др. Гены системы репарации: популяционные различия наследственных типов рака яичников и молочной железы, выявляемые методом секвенирования нового поколения. Опухоли женской репродуктивной системы. 2017;13(2):61-67. DOI: https://doi.org/10.17650/1994-4098-2017-13-2-61-67
Любченко ЛН. Наследственный рак молочной железы и/или яичников: ДНК-диагностика, индивидуальный прогноз, лечение и профилактика [диссертация]. Москва; 2009.
Goode ELA genome-wide association study identies susceptibility loci for ovar-ian cancer at 2q31 and 8q24. Nature Genetics. 2010;42(10):874-879. DOI: https://doi.org/10.1038/ng.668
Ramus SJ, Antoniou AC, Kuchenbaecker KB, et al. Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Human Mutation. 2012;33(4):690-702. DOI: https://doi.org/10.1002/humu.22025
Kuchenbaecker KB, Ramus SJ, Tyrer J, et al. Identification of six new susceptibility loci for invasive epithe-lial ovarian cancer. Nature Genetics. 2015;47(2):164-171. DOI: https://doi.org/10.1038/ng.3185
Lynch HT, Krush AJ. Heredity and adenocarcinoma of the colon. Gastroenterology. 1967;53(4):517-527. DOI: https://doi.org/10.1016/S0016-5085(19)34179-4
Lynch HT, Lynch JF, Lynch PM, et al. Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management. Familial Cancer. 2008;7(1):27-39. DOI: https://doi.org/10.1007/s10689-007-9165-5
Lynch HT, Casey MJ, Snyder CL, et al. Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management. Molecular Oncology. 2009;3(2):97-137. DOI: https://doi.org/10.1016/j.molonc.2009.02.004.
Guillotin D, Martin SA. Exploiting DNA mismatch repair deficiency as a therapeutic strategy. Experimental Cell Research. 2014;329(1):110-115. DOI: https://doi.org/10.1016/j.yexcr.2014.07.004
Ferreira AM, Westers H, Sousa S, et al. Mononucleotide precedes dinucleotide repeat instability during colorectal tumour development in Lynch syndrome patients. The Journal of Pathology: A Journal of the Pathological Society of Great Britain and Ireland. 2009;219(1):96-102. DOI:https://doi.org/10.1002/path.2573
Toss A, Molinaro E, Sammarini M, et al. Hereditary ovarian cancers: state of the art. Minerva Medica. 2019;110:301-319. DOI: https://doi.org/10.23736/s0026-4806.19.06091-9
Amin N, Chaabouni N, George A. Genetic testing for epithelial ovarian cancer. Best Practice and Research in Clinical Obstetrics and Gynaecology. 2020;65:125-38 DOI: https://doi.org/10.1016/j.bpobgyn.2020.01.005
Pal T, Permuth‐Wey J, Sellers TA. A review of the clinical relevance of mismatch‐repair deficiency in ovarian cancer. Cancer. 2008;113(4):733‐742. DOI: https://doi.org/10.1002/cncr.23601
Xiao X, Melton DW, Gourley C. Mismatch repair deficiency in ovarian cancer – molecular characteristics and clinical implications. Gynecologic Oncology. 2014;132(2):506‐512. DOI: https://doi.org/10.1016/j.ygyno.2013.12.003
Crosbie EJ, Ryan NA, McVey, et al. Assessment of mismatch repair deficiency in ovarian cancer. Journal of Medical Genetics. 2021;58(10):687-691. DOI http://dx.doi.org/10.1136/jmedgenet-2020-107270
Burgess BT, Kolesar JM. Defective DNA repair in hereditary ovarian cancers: Implications for therapy. American Journal of Health-System Pharmacy. 2018;75(21):1697-1707. DOI: https://doi.org/10.2146/ajhp180124
Blanco I, Sijmons RH, 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(7):1306-1316.
Kurian AW, Hughes E, Handorf EA, et al. Breast and ovarian cancer penetrance estimates derived from germline multiple-gene sequencing results in women. JCO Precision Oncology. 2017;1:1-12. DOI: 10.1200/PO.16.00066
Sanne W, van der Klift HM, Tops CM, et al. Cancer risks for PMS2-associated Lynch syndrome. Journal of Clinical Oncology. 2018;36(29):2961-2968. DOI: https://doi.org/10.1200/JCO.2018.78.4777
Lilyquist J, LaDuca H, Polley E, et al. Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls. Gynecologic Oncology. 2017;147(2):375-380. DOI: https://doi.org/10.1016/j.ygyno.2017.08.030
Castéra L, Harter V, Muller E, et al Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families. Genetics in Medicine. 2018;20(12):1677-1686. DOI: https://doi.org/10.1038/s41436-018-0005-9
Suszynska M, Klonowska K, Jasinska AJ, et al. Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes – Providing evidence of cancer predisposition genes. Gynecologic Oncology. 2019;153(2):452-462. DOI: https://doi.org/10.1016/j.ygyno.2019.01.027
Lu HM, Li S, Black MH, et al. Association of breast and ovarian cancers with predisposition genes identified by large-scale sequencing. JAMA Oncology. 2019;5(1):51-57. DOI: https://doi.org/10.1001/jamaoncol.2018.2956
Song H, Cicek MS, Dicks E, et al. The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. Human Molecular Genetics. 2014;23(17):4703-4709. DOI: https://doi.org/10.1093/hmg/ddu172
Akbari MR, Zhang S, Cragun D, et al. Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens. Familial Cancer. 2017:16(3):351-355. DOI: https://doi.org/10.1007/s10689-017-9973-1
Walsh T, Casadei S, Lee MK, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proceedings of the National Academy of Sciences. 2011;108(44):18032-18037. DOI: https://doi.org/10.1073/pnas.1115052108
Pal T, Akbari MR, Sun P, et al. Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. British Journal of Cancer. 2012;107(10):1783-1790. DOI: https://doi.org/10.1038/bjc.2012.452
Ambrose M, Gatti RA. Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions. Blood, The Journal of the American Society of Hematology. 2013;121(20):4036-4045. DOI: https://doi.org/10.1182/blood-2012-09-456897
Amirifar P, Ranjouri MR, Yazdani R, et al. Ataxia‐telangiectasia: A review of clinical features and molecular pathology. Pediatric Allergy and Immunology. 2019;30(3):277-288. DOI: https://doi.org/10.1111/pai.13020
Swift M, Reitnauer PJ, Morrell D, et al. Breast and other cancers in families with ataxia-telangiectasia. New England Journal of Medicine. 1987;316(21):1289-1294. DOI: https://doi.org/10.1056/NEJM198705213162101
Kurian AW, Ward KC, Howlader N, et al. Genetic testing and results in a population-based cohort of breast cancer patients and ovarian cancer patients. Journal of Clinical Oncology. 2019;37(15):1305. DOI: https://doi.org/10.1200/JCO.18.01854
Norquist BM, Harrell MI, Brady MF, et al. Inherited Mutations in Women with Ovarian Carcinoma. JAMA Oncology. 2016;2:482-490. DOI: 10.1001/jamaoncol.2015.5495
Jerzak KJ, Mancuso T, Eisen A. Ataxia–telangiectasia gene (ATM) mutation heterozygosity in breast cancer: a narrative review. Current Oncology. 2018;25(2):176-180. DOI: https://doi.org/10.3747/co.25.3707
Koczkowska M, Krawczynska N, Stukan M, et al. Spectrum and prevalence of pathogenic variants in ovarian cancer susceptibility genes in a group of 333 patients. Cancers. 2018;10(11):442. DOI: https://doi.org/10.3390/cancers10110442
Thorstenson YR, Roxas A, Kroiss R, et al. Contributions of ATM mutations to familial breast and ovarian cancer. Cancer research. 2003;63(12):3325-3333.
Podralska MJ, Stembalska A, Ślęzak R, et al. Ten new ATM alterations in Polish patients with ataxia‐telangiectasia. Molecular genetics & genomic medicine. 2014;2(6):504-511. DOI: https://doi.org/10.1002/mgg3.98
Southey MC, Goldgar DE, Winqvist R, et al. PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. Journal of Medical Genetics. 2016;53(12):800-811. DOI: http://dx.doi.org/10.1136/jmedgenet-2016-103839
Waddell N, Jonnalagadda J, Marsh A, et al. Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling. Genes Chromosomes and Cancer. 2006;45:1169-81. DOI: https://doi.org/10.1002/gcc.20381
Hall MJ, Bernhisel R, Hughes E, et al. Germline pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with high and moderate risks for multiple cancers. Cancer Prevention Research. 2021;14(4):433-440. https://doi.org/10.1158/1940-6207.CAPR-20-0448
Weemaes CMR, Hustinx TWJ, Scheres JMJ, et al A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatrica. 1981;70(4):557-564. DOI: https://doi.org/10.1111/j.1651-2227.1981.tb05740.x
Van Der Burgt I, Chrzanowska KH, Smeets DFCM, et al. Nijmegen breakage syndrome. Journal of Medical Genetics. 1996;33(2):153-156. DOI: http://dx.doi.org/10.1136/jmg.33.2.153
Wen J, Cerosaletti K, Schultz KJ, et al. NBN phosphorylation regulates the accumulation of MRN and ATM at sites of DNA double-strand breaks. Oncogene. 2013;32(37):4448-4456. DOI: https://doi.org/10.1038/onc.2012.443
Rupnik A, Lowndes NF, Grenon M. MRN and the race to the break. Chromosoma. 2010;119:115-135. DOI: https://doi.org/10.1007/s00412-009-0242-4
Ramus SJ, Song H, Dicks E. Germline mutations in the BRIP1, BARD1, PALB2, and NBN genes in women with ovarian cancer. Journal of the National Cancer Institute. 2015;107(11):djv214. DOI: https://doi.org/10.1093/jnci/djv214
Lhotova K, Stolarova L, Zemankova P, et al. Multigene panel germline testing of 1333 Czech patients with ovarian cancer. Cancers. 2020;12(4):956. DOI: https://doi.org/10.3390/cancers12040956
Seemanova E, Varon R, Vejvalka J, et al. The Slavic NBN founder mutation: a role for reproductive fitness? PLoS ONE. 2016;11(12):e0167984. DOI: https://doi.org/10.1371/journal.pone.0167984
Cybulski C, Kluźniak W, Huzarski T, et al. The spectrum of mutations predisposing to familial breast cancer in Poland. International Journal of Cancer. 2019;145(12):3311-3320. DOI: https://doi.org/10.1002/ijc.32492
Lins S, Kim R, Krüger L, et al. Clinical variability and expression of the NBN c. 657del5 allele in Nijmegen Breakage Syndrome. Gene. 2009;447(1):12-17. DOI: https://doi.org/10.1016/j.gene.2009.07.013
Suspitsin EN, Sherina NY, Ponomariova DN, et al. High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients. Hereditary Cancer in Clinical Practice. 2009;7(1):1-7. DOI: https://doi.org/10.1186/1897-4287-7-5
Батенева ЕИ, Филиппова МГ, Тюляндина АС, и др. Высокая частота мутаций в генах BRCA1, BRCA2, CHEK2, NBN, BLM у больных раком яичников в российской популяции. Опухоли женской репродуктивной системы. 2014;4:51-56. DOI: https://doi.org/10.17650/1994-4098-2014-0-4-51-56.
Krivokuca A, Boljevic I, Jovandic S, et al. Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia. Journal of Human Genetics. 2019;64(4):281-290. DOI: https://doi.org/10.1038/s10038-019-0562-z
Bogdanova N, Schürmann P, Waltes R, et al. NBS1 variant I171V and breast cancer risk. . 2008;(1):75-79. DOI: https://doi.org/10.1007/s10549-007-9820-4
Nowak J, Mosor M, Ziółkowska I, et al. Heterozygous carriers of the I171V mutation of the NBS1 gene have a significantly increased risk of solid malignant tumours. . 2008;(4):627-630. DOI: https://doi.org/10.1016/j.ejca.2008.01.006
Rożnowski K, Januszkiewicz-Lewandowska D, Mosor M, et al. I171V germline mutation in the NBS1 gene significantly increases risk of breast cancer. . 2008;(2):343-348. DOI: https://doi.org/10.1007/s10549-007-9734-1
Бермишева МА, Богданова НВ, Зиннатуллина ГФ, и др. Анализ мутаций a657del5 и р. R215W в гене NBN у больных раком молочной железы в Республике Башкортостан и Ханты-Мансийском автономном округе. Медицинская генетика. 2009;8(8):36-40.
Stafford JL, Dyson G, Levin NK, et al. Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability. . 2017;(6):e0178450. DOI: https://doi.org/10.1371/journal.pone.0178450
Elkholi IE, Di Iorio M, Fahiminiya S, et al. Investigating the causal role of MRE11A p. E506* in breast and ovarian cancer. . 2021;(1):1-9. DOI: https://doi.org/10.1038/s41598-021-81106-w
Heikkinen K, Karppinen SM, Soini Y, et al. Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility. . 2003;(12):e131-e131. DOI: http://dx.doi.org/10.1136/jmg.40.12.e131
Li J, Yen C, Liaw D, et al. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. . 1997;(5308):1943-1947. DOI: 10.1126/science.275.5308.1943
Pezzolesi MG, Zbuk KM, Waite K, et al. Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome. Human Molecular Genetics.2007;16:1058-1071. DOI: https://doi.org/10.1093/hmg/ddm053
Mester J, Eng C. Cowden syndrome: Recognizing and managing a not-so-rare hereditary cancer syndrome. Journal of Surgical Oncology.2015;111:125-130. DOI: https://doi.org/10.1002/jso.23735
Tan MH, Mester JL, NgeowJ, et al. Lifetime cancer risks in individuals with germline PTEN mutations. . 2012;(2):400-407. https://doi.org/10.1158/1078-0432.CCR-11-2283
Angeli D, Salvi S, Tedaldi G. Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test? . 2020;(3):1128. DOI: https://doi.org/10.3390/ijms21031128
Kurman RJ, Shih IM. The Origin and pathogenesis of epithelial ovarian cancer-a proposed unifying theory. . 2010;(3):433. DOI: https://doi.org/10.1097/PAS.0b013e3181cf3d79
Sato N, Tsunoda H, Nishida M, et al. Loss of heterozygosity on 10q23. 3 and mutation of the tumor suppressor gene PTEN in benign endometrial cyst of the ovary: possible sequence progression from benign endometrial cyst to endometrioid carcinoma and clear cell carcinoma of the ovary. . 2000;(24):7052-7056.
Kolasa IK, Rembiszewska A, Janiec-Jankowska A, et al. PTEN mutation, expression and LOH at its locus in ovarian carcinomas. Relation to TP53, K-RAS and BRCA1 mutations. Gynecologic Oncology. 2006;103(2):692-697. DOI: https://doi.org/10.1016/j.ygyno.2006.05.007
Xu B, Hamada S, Kusuki I, et al. Possible involvement of loss of heterozygosity in malignant transformation of ovarian endometriosis. 2011;(2):239-246. DOI: https://doi.org/10.1016/j.ygyno.2010.10.036
Cho MY, Kim HS, Eng C, et al. First report of ovarian dysgerminoma in Cowden syndrome with germline PTEN mutation and PTEN-related 10q loss of tumor heterozygosity. . 2008;(8):1258-1264. DOI: https://doi.org/10.1097/PAS.0b013e31816be8b7
Matsubayashi H, Higashigawa S, Kiyozumi Y, et al. Metachronous ovarian endometrioid carcinomas in a patient with a PTEN variant: case report of incidentally detected Cowden syndrome. . 2019;(1):1-5. DOI: https://doi.org/10.1186/s12885-019-6272-2
Yauy K, Imbert-Bouteille M, Bubien V, et al. Ovarian clear cell carcinoma in Cowden syndrome. . 2019;(1):7-11. DOI: https://doi.org/10.6004/jnccn.2018.7065
Xu X, Jin D, Durgan J, et al. LKB1 controls human bronchial epithelial morphogenesis through p114RhoGEF-dependent RhoA activation. . 2013;(14):2671-2682.https://doi.org/10.1128/MCB.00154-13
Resta N, Pierannunzio D, Lenato GM, et al. Cancer risk associated with STK11/LKB1 germline mutations in Peutz–Jeghers syndrome patients: Results of an Italian multicenter study. . 2013;(7):606-611. DOI: https://doi.org/10.1016/j.dld.2012.12.018
Van Lier MGF, Wagner A, Mathus-Vliegen EMH, et al. High cancer risk in Peutz–Jeghers syndrome: a systematic review and surveillance recommendations. . 2010;(6):1258-1264. DOI: https://doi.org/10.1038/ajg.2009.725
Neto N, Cunha TM. Do hereditary syndrome-related gynecologic cancers have any specific features? . 2015;(5):545-552. DOI: https://doi.org/10.1007/s13244-015-0425-x
Li W, Shao D, Li L, et al. Germline and somatic mutations of multi-gene panel in Chinese patients with epithelial ovarian cancer: a prospective cohort study. . 2019;(1):1-9. DOI: https://doi.org/10.1186/s13048-019-0560-y
Shao D, Cheng S, Guo F, et al. Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high‐risk Chinese individuals. . 2020;(2):647-657. DOI: https://doi.org/10.1111/cas.14242
База данных мутаций генов человека [HGMD] [Электронный ресурс] [дата обращения 22.10.2021]. URL: http://www.hgmd.cf.ac.uk
Chakravarty D, Gao J, Phillips S, et al. OncoKB: a precision oncology knowledge base. . 2017;:1-16. DOI: https://doi.org/10.1200/PO.17.00011
Lee G, Kim JH, Lee SN, et al. Prevalence of pathogenic mutations in Korean hereditary breast-ovarian cancer. . 2018;:ix116. DOI: https://doi.org/10.1093/annonc/mdy441.012
Jiang YL, Zhao ZY, Li BR, et al. STK11 gene analysis reveals a significant number of splice mutations in Chinese PJS patients. . 2019;:47-57. DOI: https://doi.org/10.1016/j.cancergen.2018.11.008
Mamrak NE, Shimamura A, Howlett NG. Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia. . 2017;(3):93-99. DOI: https://doi.org/10.1016/j.blre.2016.10.002
Rosenberg PS, Tamary H, Alter BP. How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel. . 2011;(8):1877-1883. DOI: https://doi.org/10.1002/ajmg.a.34087
Alter BP. Fanconi anemia and the development of leukemia. . 2014;(3-4):214-221. DOI: https://doi.org/10.1016/j.beha.2014.10.002
Asur RS, Kimble DC, Lach FP, et al. Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype. . 2018;(1):77-91. DOI: https://doi.org/10.1002/mgg3.350
Kottemann MC, Smogorzewska A. Fanconi anaemia and the repair of Watson and Crick DNA crosslinks. . 2013;(7432):356-363. DOI: https://doi.org/10.1038/nature11863
Yang X, Leslie G, Doroszuk A, et al. Cancer risks associated with germline PALB2 pathogenic variants: an international study of 524 families. . 2020;(7):674. DOI: https://doi.org/10.1200/JCO.19.01907
Xia B, Sheng Q, Nakanishi K, et al. Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. . 2006;(6):719-729. DOI: https://doi.org/10.1016/j.molcel.2006.05.022
Zhang F, Fan Q, Ren K, et al. PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2. . 2009;(7):1110-1118. https://doi.org/10.1158/1541-7786.MCR-09-0123
Pennington KP, Walsh T, Harrell MI, et al. Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clinical Cancer Research. 2014;20:764-775. DOI:
Tung N, Lin NU, Kidd J, et al. Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer. Journal of Clinical Oncology. 2016;34:1460-1468. DOI: 10.1200/JCO.2015.65.0747
Tischkowitz M, Sabbaghian N, Hamel N, et al. Contribution of the PALB2 c. 2323C> T [p. Q775X] founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent. . 2013;(1):1-7. DOI: https://doi.org/10.1186/1471-2350-14-5
Ghadirian P, Robidoux A, Zhang P, et al. The contribution of founder mutations to early‐onset breast cancer in French‐Canadian women. Clinical Genetics. 2009;76(5):421-426.DOI: https://doi.org/10.1111/j.1399-0004.2009.01277.x
Dansonka-Mieszkowska A, Kluska A, Moes J, et al. A novel germline PALB2 deletion in Polish breast and ovarian cancer patients. . 2010;11(1):1-9. DOI: https://doi.org/10.1186/1471-2350-11-20
Wojcik P, Jasiówka M, Strycharz E, et al. Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland. . 2016;(1):1-10. DOI: https://doi.org/10.1186/s13053-016-0046-5
Noskowicz M, Bogdanova N, Bermisheva M, et al. Prevalence of PALB2 mutation c. 509_510delGA in unselected breast cancer patients from Central and Eastern Europe. . 2014;(2):137-142. DOI: https://doi.org/10.1007/s10689-013-9684-1
Cybulski C, Kluźniak W, Huzarski T, et al. Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis. . 2015;(6):638-644. DOI: https://doi.org/10.1016/S1470-2045(15)70142-7
Janatova M, Kleibl Z, Stribrna J, et al. The PALB2 gene is a strong candidate for clinical testing in BRCA1-and BRCA2-negative hereditary breast cancer. . 2013;(12):2323-2332. https://doi.org/10.1158/1055-9965.EPI-13-0745-T
Hellebrand H, Sutter C, Honisch E, et al. Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer. . 2011;(6):E2176-E2188. DOI: https://doi.org/10.1002/humu.21478
Prokofyev D, Bogdanova N, Bermisheva M, et al. Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural region. . 2012;(1):100-101. DOI: https://doi.org/10.1111/j.1399-0004.2011.01824.x
Kluska A, Balabas A, Piatkowska M, et al. PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland. . 2017;(1):1-6. DOI: https://doi.org/10.1186/s12920-017-0251-8
Rein HL, Bernstein KA, Baldock RA. RAD51 paralog function in replicative DNA damage and tolerance. . 2021;:86-91. DOI: https://doi.org/10.1016/j.gde.2021.06.010
Meindl A, Hellebrand H, Wiek C, et al. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. . 2010;(5):410-414. DOI: https://doi.org/10.1038/ng.569
Loveday C, Turnbull C, Ramsay E, et al. Germline mutations in RAD51D confer susceptibility to ovarian cancer. 2011;(9):879-882. DOI: https://doi.org/10.1038/ng.893
Thompson ER, Rowley SM, Sawyer S, et al. Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer. . 2013;(1):e54772. DOI: https://doi.org/10.1371/journal.pone.0054772
Coulet F, Fajac A, Colas C, et al. Germline RAD51C mutations in ovarian cancer susceptibility. 2013;(4):332-336. DOI: https://doi.org/10.1111/j.1399-0004.2012.01917.x
Pelttari LM, Kiiski J, Nurminen R, et al. A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer. . 2012;(7):429-432. DOI: http://dx.doi.org/10.1136/jmedgenet-2012-100852
Yang X, Song H, Leslie G, et al. Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D. . 2020;(12):1242-1250. DOI: https://doi.org/10.1093/jnci/djaa030
Suszynska M, Ratajska M, Kozlowski P. BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of~ 30,000 cases. . 2020;(1):1-11. DOI: https://doi.org/10.1186/s13048-020-00654-3
Dawson LM, Smith KN, Werdyani S, et al. A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect. . 2020;(2):e1070. DOI: https://doi.org/10.1002/mgg3.1070
Vuorela M, Pylkäs K, Hartikainen JM, et al. Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility. . 2011;(3):1003-1010. DOI: https://doi.org/10.1007/s10549-011-1677-x
Min A, Im SA, Yoon YK, et al. RAD51C-deficient cancer cells are highly sensitive to the PARP inhibitor olaparib. . 2013;(6):865-877. https://doi.org/10.1158/1535-7163.MCT-12-0950
Jiang X, Li X, Li W, et al. PARP inhibitors in ovarian cancer: Sensitivity prediction and resistance mechanisms. . 2019;(4):2303-2313. DOI: https://doi.org/10.1111/jcmm.14133
Rutter JL, Smith AM, Dávila MR, et al. Mutational analysis of the BRCA1‐interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2‐negative probands from breast‐ovarian cancer families and among early‐onset breast cancer cases and reference individuals. . 2003;(2):121-128. DOI: https://doi.org/10.1002/humu.10238
Cantor SB, Guillemette S. Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1. . 2011;(2):253-261. DOI: https://doi.org/10.2217/fon.10.191
London TB, Barber LJ, Mosedale G, et al. FANCJ is a structure-specific DNA helicase associated with the maintenance of genomic G/C tracts. . 2008;(52):36132-36139. DOI: https://doi.org/10.1074/jbc.M808152200
Voutsadakis IA. Landscape of BRIP1 molecular lesions in gastrointestinal cancers from published genomic studies. . 2020;(11):1197. DOI: https://doi.org/10.3748/wjg.v26.i11.1197
Weber-Lassalle N, Hauke J, Ramser J, et al. BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. . 2018;(1):1-6. DOI: https://doi.org/10.1186/s13058-018-0935-9
Bridge WL, Vandenberg CJ, Franklin RJ, et al. The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair. . 2005;(9):953-957. DOI: https://doi.org/10.1038/ng1627
Castaneda A, Moyer C, Gillespie JL, et al. BRIP1 mutation does not confer sensitivity to PARP inhibition. . 2019;:87. DOI: https://doi.org/10.1016/j.ygyno.2019.04.205
del Valle J, Rofes P, Moreno-Cabrera JM, et al. Exploring the role of mutations in Fanconi anemia genes in hereditary cancer patients. . 2020;(4):829. DOI: https://doi.org/10.3390/cancers12040829
Dicks E, Song H, Ramus SJ, et al. Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene. . 2017;(31):50930. DOI: https://doi.org/10.18632/oncotarget.15871
Song H, Dicks EM, Tyrer J, et al. Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer. . 2021;(5):305-313. DOI: http://dx.doi.org/10.1136/jmedgenet-2019-10673

Все журналы

Отправить статью

Научные результаты биомедицинских исследований включен в научную базу РИНЦ (лицензионный договор № 765-12/2014 от 08.12.2014).

Журнал включен в перечень рецензируемых научных изданий, рекомендуемых ВАК

Журнал индексируется следующими научными базами и платформами

Научные результаты биомедицинских исследований (ISSN 2658-6533)

The journal materials and website are licensed under Creative Commons «Attribution» 4.0 International.

Учредитель: федеральное государственное автономное образовательное учреждение высшего образования «Белгородский государственный национальный исследовательский университет» (НИУ «БелГУ»). Адрес: 308015, Белгородская область, г. Белгород, ул. Победы, 85.

Издатель: федеральное государственное автономное образовательное учреждение высшего образования «Белгородский государственный национальный исследовательский университет» (НИУ «БелГУ»). Адрес: 308015, Белгородская область, г. Белгород, ул. Победы, 85.

Редакция: главный редактор Михаил Иванович Чурносов, e-mail: RR_MedPharm@bsuedu.ru, тел.: +7 (4722) 30-14-03.

Положение о журнале

Регистрационный номер: ЭЛ № ФС 77 - 74739 от 29.12.2018

Остались вопросы?
Можете написать нам:

✉ Ответственный cекретарь

✉ Администратор сайта

✉ Контент менеджер