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Список литературы

1. Справочник по колопроктологии (под редакцией Ю.А. Шелыгина, Л.А. Благодарного) - М.: Литтерра, - 2012. - 596 с.

2. Цуканов А.С., Шелыгин Ю.А., Фролов С.А., Кузьминов А.М. Семейный аденоматоз толстой кишки. Хирург. 2017; 3: 14 - 24.

3. Groden J., Thliveris A., Samowitz W. et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell. 1991; 66: 589 - 600.

4. Herrera L., Kakati S., Gibas L. et al. Gardner syndrome in man with an interstitial deletion of 5q. Am.J.Med.Genet. 1986; 25: 473 - 476.

5. Joslyn G., Carlson M., Thliveris A. et al. Identification of deletion mutations and three new genes at the familial polyposis locus. Cell. 1991; 66: 601 - 613.

6. Nallamilli B.R.R., Hegde M. Detecting APC gene mutations in familial adenomatous polyposis (FAP). Curr.Protoc.Hum.Genet. 2017; 92: 10.8.1 - 10.8.16. doi:10.1002/cphg.29

7. Fodde R. The APC gene in colorectal cancer. Eur J Cancer. 2002; 38(7): 867 - 871.

8. Tsukanov A.S., Pospekhova N.I., Shubin V.P, Kuzminov A.M., Kashnikov V.N., Frolov S.A., Shelygin Y.A. Mutations in the APC gene in Russian patients with classic form of familial adenomatous polyposis. Russian Journal of Genetics. 2017; 53(3): 369375.

9. Kastrinos F., Syngal S. Inherited Colorectal Cancer Syndromes. Cancer J. 2011; 17(6): 405 - 415.

10. Al-Tassan N., Chmiel N.H., Maynard J. et al. Inherited variants of MYH associated with somatic G:C/T: A mutations in colorectal tumors. Nature Genetics. 2002; 30: 221 - 232.

11. Kantor M., Sobrado J., Patel S. et al. Hereditary Colorectal Tumors: A Literature Review on MUTYH-associated Polyposis. Gastroenterology Research and Practice. 2017; 2017:8693182. doi: 10.1155/2017/8693182.

12. Nielsen M., Infante E., Brand R. MUTYH Polyposis. In: Adam M.P, Ardinger H.H., Pagon R.A. et al., editors. GeneReviews00000001.wmz [Internet], Seattle (WA): University of Washington, Seattle. 2012; 4 [Updated 2019 Oct],

13. Galiatsatos P, Foulkes WD. Familial adenomatous polyposis. Am J Gastroenterol. 2006; 101(2): 385 - 398.

14. Septer S., Lawson C.E., Anant S., Attard T. Familial adenomatous polyposis in pediatrics: natural history, emerging surveillance and management protocols, chemopreventive strategies, and areas of ongoing debate. Fam Cancer. 2016; 15(3): 477 - 485.

15. Злокачественные новообразования в России в 2020 году (заболеваемость и смертность) (под редакцией А.Д. Каприна, В.В. Старинского, А.О. Шахзадовой) - М.: МНИОИ им. П.А. Герцена - филиал ФГБУ "НМИЦ радиологии" Минздрава России, - 2021. - - илл. - 252 с.

16. Цуканов А.С., Шубин В.П., Поспехова Н.И., Сачков И.Ю., Кантиков В.Н., Шелыгин Ю.А. Наследственные раки желудочно-кишечного тракта. Практическая онкология. 2014; 15(3): 126 - 133.

17. Rozen P, Macrae F. Familial adenomatous polyposis: The practical applications of clinical and molecular screening. Fam. Cancer. 2006; 5: 227 - 235.

18. Цуканов А.С., Поспехова Н.И., Шубин В.П. и др. Дифференциальный диагноз синдрома Линча от других форм неполипозного колоректального рака среди российских пациентов. Российский журнал гастроэнтерологии, гепатологии, колопроктологии. 2014; 24(2): 78 - 84.

19. Grover S., Kastrinos F., Steyerberg E.W. et al. Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. JAMA. 2012; 308: 485492.

20. Scheuner M., McNeel T., Freedman A. Population prevalence of familial cancer and common hereditary cancer syndromes. The 2005 California Health Interview Survey. Genet Med. 2010; 12: 726 - 735.

21. Цуканов А.С., Шубин В.П., Кузьминов А.М. и др. Дифференциальный диагноз MutYH-ассоциированного полипоза и спорадических полипов толстой кишки. Российский журнал гастроэнтерологии, гепатологии, колопроктологии. 2018; 28(6): 51 - 57.

22. Kim J.C., Bodmer W.F. Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer. Ann Coloproctol 2021; 37(6): 368 - 38.

23. Dinarvand P, Davaro E.P, Doan J.V. et al. Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations. Arch Pathol Lab Med. 2019; 143(11): 1382 - 1398.

24. Brensinger J.D., Laken S.J., Luce M.C. et al. Variable phenotype of familial adenomatous polyposis in pedigrees with 3" mutation in the APC gene. Gut. 1998; 43(4): 548 - 552.

25. Soravia C., Berk T., Madlensky L. et al. Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am J Hum Genet. 1998; 62: 1290 - 1301.

26. Lai G., Gallinger S. Familial adenomatous polyposis. Seminars in Surgical Oncology. 2000; 18: 314 - 323.

27. Novelli M. The pathology of hereditary polyposis syndromes. Histopathology. 2015; 66(1): 78 - 87.

28. Barrow P, Khan M, Lalloo F, Evans DG, Hill J. Systematic review of the impact of registration and screening on colorectal cancer incidence and mortality in familial adenomatous polyposis and Lynch syndrome. Br J Surg. 2013; 100:1719 - 1731.

29. Riley BD, Culver JO, Skrzynia C, et al. Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. J Genet Couns. 2012; 21:151 - 161.

30. Petersen GM, Slack J, Nakamura Y. Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage. Gastroenterology 1991; 100: 1658 - 64.

31. Talseth-Palmer B.A. The genetic basis of colonic adenomatous polyposis syndromes. Hereditary Cancer in Clinical Practice (2017) 15:5 DOI 10.1186/sl3053-017-0065-x.

32. Jass JR. Colorectal polyposes: from phenotype to diagnosis. Pathol Res Pract. 2008; 204(7): 431 - 47.

33. Friedl W., Caspari R., Sengteller M. et al. Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families, Gut 2001; 48: 515 - 521.

34. Цуканов А.С. Стратегия комплексного молекулярно-генетического изучения наследственных форм колоректального рака у российских пациентов. Автореферат диссертации на соискание ученой степени доктора наук. М., 2017, 45 с.

35. Herzig D., Hardiman К., Weiser М. et al. The American Society of Colon and Rectal Surgeons Clinical Practice Guidelines for the Management of Inherited Polyposis Syndromes. Dis Colon Rectum. 2017; 60(9): 881 - 894.

36. Syngal S., Brand R.E., Church J.M. et al. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015; 110(2): 223 - 263.

37. Groves C.J., Saunders B.P, Spigehnan A.D., Phillips R.K. Duodenal cancer in patients with familial adenomatous polyposis (FAP): results of a 10-year prospective study. Gut 2002; 50: 636 - 634.

38. Spigehnan A., Talbot I., Williams C. et al. Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Fancet. 1989; 334 (8666): 783 - 785.

39. Brosens F.A., Keller J.J., Offerhaus G.J.A. et al. Prevention and management of duodenal polyps in familial adenomatous polyposis. Gut. 2005; 54 (7): 1034 - 1043.

40. Feone P.J., Mankaney G., Sarvapelli Sh. Et al. Endoscopic and histologic features associated with gastric cancer in familial adenomatous polyposis. Gastrointest Endosc. 2019; 89(5): 961 - 968.

41. Kallenberg F.G.J., Bastiaansen B.A.J., Dekker E. Cap-assisted forward-viewing endoscopy to visualize the ampulla of Vater and the duodenum in patients with familial adenomatous polyposis. Endoscopy, 2017; 49(2): 181 - 185.

42. de Marchis M.L., Tonelli F., Quaresmini D. et al. Desmoid Tumors in Familial Adenomatous Polyposis. Anticancer Res. 2017; 37(7): 3357 - 3366.

43. Campos F.G., Martinez C.A., Novaes M., Nahas S.C. Desmoid tumors: clinical features and outcome of an unpredictable and challenging manifestation of familial adenomatous polyposis. Fam Cancer. 2015; 14(2): 211 - 219.

44. Будтуев А.С., Пикунов Д.Ю., Рыбаков Е.Г., Севостьянов С.И. Синдром низкой передней резекции прямой кишки и методы его хирургической коррекции. Вестник хирургии им. И.И. Грекова. 2014; 173(4): 106 - 110.

45. Подберзская А.А., Салмин Р.М., Могилевец Э.В. и др. Современные хирургические методы лечения полипоза толстой кишки. Журнал Гродненского государственного медицинского университета. - 2016. - N 4(56). - С. 26 - 29.

46. Фоменко О.Ю., Ачкасов С.И., Титов А.Ю. и соавт. Современные возможности улучшения функционального состояния запирательного аппарата у пациентов с наличием превентивных кишечных стом. Российский журнал гастроэнтерологии, гепатологии, колопроктологии. 2015; 25(5): 77 - 83.

47. Roncucci L., Pedroni M., Mariani F. Attenuated adenomatous polyposis of the large bowel: Present and future. World J Gastroenterol. 2017; 23(23): 4135 - 4139.

48. Bums E.M., Bottle A., Aylin P. et al. Volume analysis of outcome following restorative proctocolectomy. Br J Surg. 2011; 98: 408 - 417.

49. Sylla P, Chessin D.B., Gorfine S.R. et al. Evaluation of onestage laparoscopic-assisted restorative proctocolectomy at a specialty center: comparison with the open approach. Dis Colon Rectum. 2009; 52(3): 394 - 399.

50. Zhang H., Hu S., Zhang G. et al. Laparoscopic versus open proctocolectomy with ileal pouch-anal anastomosis. Minim Invasive Ther Allied Technol. 2007; 16(3): 187 - 191.

51. Norenberg D., Sommer W. H., Thasler W. et ah Structured Reporting of Rectal Magnetic Resonance Imaging in Suspected Primary Rectal Cancer: Potential Benefits for Surgical Planning and Interdisciplinary Communication. Invest Radiol. 2017; 52(4): 232 - 239.

52. Ellis C.N. Colonic adenomatous polyposis syndromes: clinical management. Clin Colon Rectal Surg. 2008; 21: 256 - 262.

53. Aziz O., Athanasiou T., Fazio V.W. et al. Meta-analysis of observational studies of ileorectal versus ileal pouch-anal anastomosis for familial adenomatous polyposis. Br J Surg. 2006; 93: 407 - 417.

54. Tajika M., Niwa Y., Bhatia V. et al. Risk of ileal pouch neoplasms in patients with familial adenomatous polyposis. World J Gastroenterol. 2013; 19: 6774 - 6783.

55. Lynch P.M., Morris J.S., Wen S. et al. Proposed staging system and stage-specific interventions for familial adenomatous polyposis. Gastrointest Endosc. 2016; 84(1): 115125.

56. Knudsen A., Bisgaard M., Bulow S. Attenuated familial adenomatous polyposis (AFAP). A review of the literature. Fam Cancer. 2003; 2: 43 - 55.

57. Nascimbeni R., Pucciarelli S., Di Lorenzo D. et al. Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis. Dis Colon Rectum. 2010; 53:16701675.

58. Клинические рекомендации "Злокачественные новообразования ободочной кишки и ректосигмоидного отдела", год утверждения: 2020. http://cr.rosminzdrav.m/recomend/396_1

59. Клинические рекомендации "Рак прямой кишки", год утверждения: 2020. http://cr.rosminzdrav.m/recomend/554_2

60. Nieuwenhuis M.H., Lefevre J.H., Bulow S. et al. Family history, surgery, and APC mutation are risk factors for desmoid tumors in familial adenomatous polyposis: an international cohort study. Dis Colon Rectum. 2011; 54: 1229 - 1234.

61. Speake D., Evans D.G., Lalloo F. et al. Desmoid tumours in patients with familial adenomatous polyposis and desmoid region adenomatous polyposis coli mutations. Br J Surg. 2007; 94: 1009 - 1013.

62. Quast D.R., Schneider R., Burdzik E. et al. Long-term outcome of sporadic and FAP-associated desmoid tumors treated with high-dose selective estrogen receptor modulators and sulindac: a singlecenter long-term observational study in 134 patients. Fam Cancer. 2016; 15: 31 - 40.

63. Клинические рекомендации "Кишечная стома у взрослых" http://akr-onhne.ru/press/clinical-guidelines/recommendation_stoma.pdf

64. Annibali R., Oresland T., Hulten L. Does the level of stapled ileoanal anastomosis influence physiologic and functional outcome? Dis Colon Rectum. 1994; 37: 321 - 329.

65. Фоменко О.Ю., Ачкасов С.И., Титов А.Ю. и соавт. Роль аноректальной манометрии, БОС-терапии и тибиальной нейромодуляции в диагностике и консервативном лечении анальной инконтиненции у пожилых. Клиническая геронтология. 2015; 5(6): 16 - 20.

66. Labayle D., Fischer D., Vielh P. et al. Sulindac causes regression of rectal polyps in familial adenomatous polyposis. Gastroenterology. 1991; 101: 635 - 639.

67. Steinbach G., Lynch P.M., Phillips R.K.S. et al. The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. N Engl J Med. 2000; 342: 1946 - 1952.

68. Nugent K.P, Fanner K.C., Spigehnan A.D. et al. Randomized controlled trial of the effect of sulindac on duodenal and rectal polyposis and cell proliferation in patients with familial adenomatous polyposis. Br J Surg. 1993; 80: 1618 - 1619.

69. Higuchi T, Iwama T, Yoshinaga K. et al. A randomized, double-blind, placebo-controlled trial of the effects of rofecoxib, a selective cyclooxygenase-2 inhibitor, on rectal polyps in familial adenomatous polyposis patients. Clin Cancer Res. 2003; 9: 4756 - 4760.

70. Tonelli F., Valanzano R., Messerini L. et al. Long-term treatment with sulindac in familial adenomatous polyposis: is there an actual efficacy in prevention of rectal cancer? J Surg Oncol. 2000; 74: 15 - 20.

71. Cruz-Correa M., Hylind L.M., Romans K.E. et al. Long-term treatment with sulindac in familial adenomatous polyposis: a prospective cohort study. Gastroenterology. 2002; 122: 641 - 645.

72. International Society for Gastrointestinal Hereditary Tumours-InSiGHT. Fam Cancer. 2015; 14 (Suppl 1): 1 - 91.

73. Bianchi L.K., Burke C.A., Bennett A.E. et al. Fundic gland polyp dysplasia is coimnon in familial adenomatous polyposis. Clin Gastroenterol Hepatol. 2008; 6: 180 - 185.

74. Walton S-J., Frayling I.M., Clark S.K. et al. Gastric tumours in FAR Fam Cancer. 2017; 16: 363 - 369.

75. Vasen H.F., Bulow S., Myrhy T. et al. Decision analysis in the management of duodenal adenomatosis in familial adenomatous polyposis. Gut. 1997; 40: 716 - 719.

76. Bulow S., Christensen I.J., HOjen H. et al. Duodenal surveillance improves the prognosis after duodenal cancer in familial adenomatous polyposis. Colorectal Dis. 2012; 14: 947952.

77. Arvanitis M.F., Jagehnan D.G., Fazio V.W. et al. Mortality in patients with familial adenomatous polyposis. Dis Colon Rectum 1990; 33(8): 639 - 642.

78. Bertoni G., Sassatelli R., Nigrisoli E., et al. High prevalence of adenomas and microadenomas of the duodenal papilla and periampullary region in patients with familial adenomatous polyposis. Eur J Gastroenterol Hepatol 1996; 8(12): 1201 - 1206.

79. Shepherd N.A., Jass J.R., Duval I. et al. Restorative proctocolectomy with ileal reservoir: pathological and histochemical study of mucosal biopsy specimens. J Clin Pathol. 1987; 40: 601 - 607.

80. Setti Carraro P.G., Talbot I.C., Nicholls J.R. Patterns of distribution of endoscopic and histological changes in the ileal reservoir after restorative proctocolectomy for ulcerative colitis. A long-term follow-up study. Int J Colorectal Dis. 1998; 13: 103 - 107.

81. Friederich P, de Jong A.E., Mathus-Vliegen F.M. et al. Risk of developing adenomas and carcinomas in the ileal pouch in patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol. 2008; 6: 1237 - 1642.

82. Slowik V., Attard T., Dai H., et al. Desmoid tumors complicating Familial Adenomatous Polyposis: a meta-analysis mutation spectrum of affected individuals. BMC Gastroenterology. 2015; 15: 84 - 90.

83. Ahmed Ali U., Keus F., Heikens J.T. et al. Open versus laparoscopic (assisted) ileo pouch anal anastomosis for ulcerative colitis and familial adenomatous polyposis. Cochrane Database Syst Rev. 2009; (1) CD006267.

84. Ueno H., Kobayashi H., Konishi T. et al. Prevalence of laparoscopic surgical treatment and its clinical outcomes in patients with familial adenomatous polyposis in Japan. Int J Clin Oncol. 2016; 21(4): 713 - 722.

85. Fazio V.W., Ziv Y., Church J.M. et al. Ileal pouch-anal anastomoses complications and function in 1005 patients. Ann Surg. 1995; 222: 120 - 127.

86. Vasen H.F., van Duijvendijk P., Buskens E., et ah Decision analysis in the surgical treatment of patients with familial adenomatous polyposis: a Dutch-Scandinavian collaborative study including 659 patients. Gut, 2001; 49(2): 231 - 5.

87. NCCN Clinical Practice Guidelines in Oncology Genetic/Familial High-Risk Assessment: Colorectal version 1.2021.

88. Vasen H.F., Moslem G., Alonso A., Aretz S., et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut. 2008; 57(5): 704 - 13.

89. Aelvoet A.S., Struik D., Bastiaansen B.A. J. et al. Colectomy and desmoid tumours in familial adenomatous polyposis: a systematic review and meta-analysis. Familial Cancer (2022), https://doi.org/10.1007/sl0689-022-00288-y.

90. Jannasch O., Evert M., Rapp L., Lippert H., Meyer F. Aktuelle Diagnostik und Therapie von Desmoidtumoren bei Patienten mit familiarer adenomatoser Polyposis - aus chirurgischer Sicht [Current diagnosis and treatment of desmoid tumours in patients with familial adenomatous polyposis - the surgical view], Zentralbl Chir. 2010; 135(1): 34 - 43. German, doi: 10.1055/s-0028-1098794.