Сендерович А. И.^{1, 2}, Горбань Н. А.¹

¹ФГБУ «Центральная клиническая больница с поликлиникой» Управления делами Президента Российской Федерации; Россия, 121359 Москва, ул. Маршала Тимошенко, 15;

²Научно-исследовательский институт урологии и интервенционной радиологии им. Н. А. Лопаткина – филиал ФГБУ «Национальный медицинский исследовательский центр радиологии» Минздрава России; Россия, 105425 Москва, ул. 3‑я Парковая, 51, стр. 4

1. Richard G.-F., Kerrest A., Dujon B. Comparative genomics and molecular dynamics of DNA repeats in eukaryotes. Microbiol Mol Biol Rev 2008;72:686–727. DOI: 10.1128/MMBR.00011-08

2. Lu W., Zhang Y., Liu D. et al. Telomeres-structure, function, and regulation. Exp Cell Res 2013;319:133–41. DOI: 10.1016/ j.yexcr.2012.09.005

3. King D.G., Soller M., Kashi Y. Evolutionary tuning knobs. Endeavour 1997;21:36–40. DOI: 10.1016/S0160-9327(97)01005-3

4. Chistiakov D.A., Hellemans B., Volckaert F.A.M. Microsatellites and their genomic distribution, evolution, function and applications: A review with special reference to fish genetics. Aquaculture 2006;255:1–29. DOI: 10.1016/j.aquaculture. 2005.11.031

5. Pal T., Permuth-Wey J., Sellers T.A. A review of the clinical relevance of mismatch-repair deficiency in ovarian cancer. Cancer 2008;113:733–42. DOI: 10.1002/cncr.23601

6. Minakina L., Nepomnyashchikh S., Egorova I. et al. Mismatch repair and repair of insertion/deletion loops in eukaryotic DNA. Bull Vost Sib Naucn Sent 2016;1:72–5. DOI: 10.12737/21614

7. Gu Y., Parker A., Wilson T.M. et al. Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6. J Biol Chem 2002;277: 11135–42. DOI: 10.1074/jbc.M108618200

8. Harfe B.D., Jinks-Robertson S. Removal of frameshift intermediates by mismatch repair proteins in Saccharomyces cerevisiae. Mol Cell Biol 1999;19:4766–73. DOI: 10.1128/MCB.19. 7.4766

9. Федянин М.Ю., Трякин А.А., Тюляндин С.А. Роль микросателлитной нестабильности при раке толстой кишки. Тазовая хирургия и онкология 2012;(3):19–26. Доступно по: https:// cyberleninka.ru/article/n/rol-mikrosatellitnoy-nestabilnosti-prirake- tolstoy-kishki Fedyanin M.Yu., Tryakin A.A., Tjulandin S.A. The role of microsatellite instability in colon cancer. Tazovaya khirurgiya i onkologiya = Pelvic surgery and oncology 2012;(3):19–26. Available at: https://cyberleninka.ru/article/n/rol-mikrosatellitnoynestabilnosti- pri-rake-tolstoy-kishki. (In Russ.)

10. Sinicrope F.A., Sargent D.J. Molecular pathways: microsatellite instability in colorectal cancer: prognostic, predictive, and therapeutic implications. Clin Cancer Res 2012;18:1506–12. DOI: 10.1158/1078-0432.CCR-11-1469

11. Herman J.G., Umar A., Polyak K. et al. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci USA 1998;95:6870–5. DOI: 10.1073/pnas.95.12.6870

12. Toyota M., Ahuja N., Ohe-Toyota M. et al. CpG island methylator phenotype in colorectal cancer. Proc Natl Acad Sci USA 1999;96:8681–6. DOI: 10.1073/pnas.96.15.8681

13. Aaltonen L.A., Peltomäki P., Leach F.S. et al. Clues to the pathogenesis of familial colorectal cancer. Science 1993:812–6. DOI: 10.1126/science.8484121

14. Ionov Y., Peinado M.A., Malkhosyan S. et al. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 1993;363:558–61. DOI: 10.1038/363558a0

15. Thibodeau S.N., Bren G., Schaid D. Microsatellite instability in cancer of the proximal colon. Science 1993:816–9. DOI: 10.1126/science.8484122

16. Dietmaier W., Wallinger S., Bocker T. et al. Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression. Cancer Res 1997;57:4749–56.

17. Umar A., Boland C.R., Terdiman J.P. et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004;96:261–8. DOI: 10.1093/jnci/djh034

18. Yarchoan M., Hopkins A., Jaffee E.M. Tumor mutational burden and response rate to PD-1 inhibition. N Engl J Med 2017;377:2500–1. DOI: 10.1056/NEJMc1713444

19. Diaz L.A., Le D., Maio M. et al. 1174O – Pembrolizumab in microsatellite instability high cancers: Updated analysis of the phase II KEYNOTE-164 and KEYNOTE-158 studies. Ann Oncol 2019;30:v475. DOI: 10.1093/annonc/mdz253

20. Carethers J.M. Microsatellite instability pathway and EMAST in colorectal cancer. Curr Colorectal Cancer Rep 2017;13:73–80. DOI: 10.1007/s11888-017-0352-y

21. Koi M., Tseng-Rogenski S.S., Carethers J.M. Inflammationassociated microsatellite alterations: Mechanisms and significance in the prognosis of patients with colorectal cancer. World J Gastrointest Oncol 2018;10:1–14. DOI: 10.4251/wjgo.v10.i1.1

22. Takehara Y., Nagasaka T., Nyuya A. et al. Accuracy of four mononucleotide-repeat markers for the identification of DNA mismatch-repair deficiency in solid tumors. J Transl Med 2018;16:5. DOI: 10.1186/s12967-017-1376-4

23. Baretti M., Le D.T. DNA mismatch repair in cancer. Pharmacol Ther 2018;189:45–62. DOI: 10.1016/j.pharmthera.2018.04.004

24. Yamamoto H., Imai K. Microsatellite instability: an update. Arch Toxicol 2015;89:899–921. DOI: 10.1007/s00204-015-1474-0

25. Stelloo E., Jansen A.M.L., Osse E.M. et al. Practical guidance for mismatch repair-deficiency testing in endometrial cancer. Ann Oncol 2017;28:96–102. DOI: 10.1093/annonc/mdw542

26. Boland C.R., Thibodeau S.N., Hamilton S.R. et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998;58:5248–57.

27. Burger M., Denzinger S., Hammerschmied C.G. et al. Elevated microsatellite alterations at selected tetranucleotides (EMAST) and mismatch repair gene expression in prostate cancer. J Mol Med 2006;84:833–41. DOI: 10.1007/s00109-006-0074-0

28. Watson M.M., Lea D., Hagland H.R., Søreide K. Elevated microsatellite alterations at selected tetranucleotides (EMAST) is not attributed to MSH3 loss in stage I–III colon cancer: An automated, digitalized assessment by immunohistochemistry of whole slides and hot spots. Transl Oncol 2019;12:1583–8. DOI: 10.1016/j.tranon.2019.08.009

29. Suraweera N., Duval A., Reperant M. et al. Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. Gastroenterology 2002;123:1804–11. DOI: 10.1053/gast.2002.37070

30. Buhard O., Suraweera N., Lectard A. et al. Quasimonomorphic mononucleotide repeats for high-level microsatellite instability analysis. Dis Markers 2004;20:251–7. DOI: 10.1155/ 2004/159347

31. Bocker T., Diermann J., Friedl W. et al. Microsatellite instability analysis: a multicenter study for reliability and quality control. Cancer Res 1997;57:4739–43.

32. Cawkwell L., Li D., Lewis F.A. et al. Microsatellite instability in colorectal cancer: improved assessment using fluorescent polymerase chain reaction. Gastroenterology 1995;109:465–71. DOI: 10.1016/0016-5085(95)90334-8

33. Pan K.-F., Liu W., Lu Y.-Y. et al. High throughput detection of microsatellite instability by denaturing high-performance liquid chromatography. Hum Mutat 2003;22:388–94. DOI: 10.1002/ humu.10271

34. Kim I.-J., Shin Y., Kang H.C. et al. Robust microsatellite instability (MSI) analysis by denaturing high-performance liquid chromatography (DHPLC). J Hum Genet 2003;48:525–30. DOI: 10.1007/s10038-003-0070-y

35. Janavicius R., Matiukaite D., Jakubauskas A., Griskevicius L. Microsatellite instability detection by high-resolution melting analysis. Clin Chem 2010;56:1750–57. DOI: 10.1373/ clinchem.2010.150680

36. Gan C., Love C., Beshay V. et al. Applicability of next generation sequencing technology in microsatellite instability testing. Genes 2015;6:46–59. DOI: 10.3390/genes6010046

37. Baudrin L.G., Deleuze J.-F., How-Kit A. Molecular and computational methods for the detection of microsatellite instability in cancer. Front Oncol 2018;8:621. DOI: 10.3389/fonc.2018.00621

38. Engel C., Ahadova A., Seppälä T.T. et al. Associations of pathogenic variants in MLH1, MSH2, and MSH6 with risk of colorectal adenomas and tumors and with somatic mutations in patients with Lynch syndrome. Gastroenterology 2020;158:1326–33. DOI: 10.1053/j.gastro.2019.12.032