oncotomskСибирский онкологический журналSiberian journal of oncology1814-48612312-3168Tomsk National Research Medical Сепtеr of the Russian Academy of Sciences10.21294/1814-4861-2025-24-5-113-127oncotomsk-3864Research ArticleОБЗОРЫREVIEWSМоногенная предрасположенность к развитию колоректального рака: особенности канцерогенеза и трансляционные аспектыMonogenic predisposition to colorectal cancer: features of carcinogenesis and translational aspectshttps://orcid.org/0000-0002-9844-4536ЯнусГ. А.YanusG. A.

Янус Григорий Аркадьевич - кандидат медицинских наук, научный сотрудник, НМИЦ онкологии им. Н.Н. Петрова; научный сотрудник.

194100, Санкт-Петербург, ул. Литовская, 2; 197758, Санкт-Петербург, п. Песочный, ул. Ленинградская, 68

Grigoriy A. Yanus - MD, PhD, Researcher, N.N. Petrov National Medical Research Center of Oncology; Researcher, Saint Petersburg SPMU.

2, Litovskaya St., Saint Petersburg, 194100; 68, Leningradskaya St., Pesochny, Saint Petersburg, 197758

octavedoctor@yandex.ruhttps://orcid.org/0000-0001-5454-5186ИевлеваА. Г.IyevlevaA. G.

Иевлева Аглая Геннадиевна - старший научный сотрудник научной лаборатории молекулярной онкологии, НМИЦ онкологии им. Н.Н. Петрова; доцент кафедры общей и медицинской молекулярной генетики.

194100, Санкт-Петербург, ул. Литовская, 2; 197758, Санкт-Петербург, п. Песочный, ул. Ленинградская, 68

Aglaya G. Iyevleva - Senior Researcher, Laboratory of Molecular Oncology, N.N. Petrov National Medical Research Centre of Oncology; Associate Professor, Department of General and Molecular Genetics, Saint Petersburg SPMU.

2, Litovskaya St., Saint Petersburg, 194100; 68, Leningradskaya St., Pesochny, Saint Petersburg, 197758

https://orcid.org/0000-0003-3619-0750МалыгинА. Ю.MalyginA. Yu.

Малыгин Артур Юрьевич - онколог клинико-диагностического отделения

SPIN-код: 5019-2968

197758, Санкт-Петербург, п. Песочный, ул. Ленинградская, 68

Artur Yu. Malygin - MD, Oncologist, Clinical Diagnostic Department.

68, Leningradskaya St., Pesochny, Saint Petersburg, 197758

https://orcid.org/0000-0001-9764-2090СуспицынЕ. Н.SuspitsinE. N.

Суспицын Евгений Николаевич - доктор медицинских наук, старший научный сотрудник лаборатории молекулярной онкологии, НМИЦ онкологии им. Н.Н. Петрова; доцент кафедры общей и молекулярной генетики.

194100, Санкт-Петербург, ул. Литовская, 2; 197758, Санкт-Петербург, п. Песочный, ул. Ленинградская, 68

Evgeny N. Suspitsin - MD, DSc, Senior Researcher, Laboratory of Molecular Oncology, N.N. Petrov National Medical Research Centre of Oncology; Associate Professor, Department of General and Molecular Genetics, Saint Petersburg SPMU.

2, Litovskaya St., Saint Petersburg, 194100; 68, Leningradskaya St., Pesochny, Saint Petersburg, 197758

 

https://orcid.org/0000-0002-2149-7728АлексахинаС. Н.AleksakhinaS. N.

Алексахина Светлана Николаевна - кандидат биологических наук, старший научный сотрудник

SPIN-код: 6898-4687

Researcher ID (WOS): B-2136-2013

Author ID (Scopus): 56003023200

197758, Санкт-Петербург, п. Песочный, ул. Ленинградская, 68

Svetlana N. Aleksakhina - PhD, Senior Researcher

Researcher ID (WOS): B-2136-2013

Author ID (Scopus): 56003023200

68, Leningradskaya St., Pesochny, Saint Petersburg, 197758

https://orcid.org/0000-0003-4529-7891ИмянитовЕ. Н.ImyanitovE. N.

Имянитов Евгений Наумович - доктор медицинских наук, член-корреспондент РАН, заведующий кафедрой общей и медицинской молекулярной генетики, Санкт-Петербургский ГПМУ; заведующий научным отделением биологии опухолевого роста, НМИЦ онкологии им. Н.Н. Петрова; профессор кафедры онкологии, Северо-Западный ГМУ им. И.И. Мечникова

SPIN-код: 1909-7323

Author ID (Scopus): 7003644486

194100, Санкт-Петербург, ул. Литовская, 2; 197758, Санкт-Петербург, п. Песочный, ул. Ленинградская, 68; 191015, Санкт-Петербург, ул. Кирочная, 41

Evgeny N. Imyanitov - MD, DSc, Corresponding Member of the Russian Academy of Sciences, Head of the Department of General and Medical Molecular Genetics, Saint Petersburg SPMU; Head of the Research Division of Tumor Growth Biology, N.N. Petrov National Medical Research Centre of Oncology; Professor, Department of Oncology, I.I. Mechnikov North-Western SMU

Author ID (Scopus): 7003644486

2, Litovskaya St., Saint Petersburg, 194100; 68, Leningradskaya St., Pesochny, Saint Petersburg, 197758; 41, Kirochnaya St., Saint Petersburg, 191015

Санкт-Петербургский государственный педиатрический медицинский университет; НМИЦ онкологии им. Н.Н. ПетроваРоссияSaint Petersburg State Pediatric Medical University; N.N. Petrov National Medical Research Centre of OncologyRussian FederationНМИЦ онкологии им. Н.Н. ПетроваРоссияN.N. Petrov National Medical Research Centre of OncologyRussian FederationСанкт-Петербургский государственный педиатрический медицинский университет; НМИЦ онкологии им. Н.Н. Петрова; Северо-Западный государственный медицинский университет им. И.И. МечниковаРоссияSaint Petersburg State Pediatric Medical University; N.N. Petrov National Medical Research Centre of Oncology; I.I. Mechnikov North-Western State Medical UniversityRussian Federation202520112025245113127Copyright © Янус Г.А., Иевлева А.Г., Малыгин А.Ю., Суспицын Е.Н., Алексахина С.Н., Имянитов Е.Н., 20252025Янус Г.А., Иевлева А.Г., Малыгин А.Ю., Суспицын Е.Н., Алексахина С.Н., Имянитов Е.Н.Yanus G.A., Iyevleva A.G., Malygin A.Y., Suspitsin E.N., Aleksakhina S.N., Imyanitov E.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.siboncoj.ru/jour/article/view/3864

Цель исследования – обобщение имеющихся сведений о наследственных разновидностях колоректального рака.

Материал и методы

Материал и методы. Поиск соответствующих источников производился в системах Medline, Cochrane Library, Elibrary, включались публикации с января 2002 г. по октябрь 2025 г. Из 3 000 найденных исследований 79 были использованы для написания систематического обзора.

Результаты

Результаты. На долю известных наследственных разновидностей приходится до 4–5 % всех случаев колоректального рака. Помимо семейного аденоматозного полипоза, синдрома Линча и MUTYH-ассоциированного полипоза, можно выделить еще как минимум 15 более редких нозологических форм наследственного рака толстой кишки (РТК). Каждое из этих заболеваний отличается своеобразием клинической картины и биологической природы. Эти особенности обусловливают отличия в подходах к профилактике и лечению разных форм наследственного РТК. В отличие от большинства опухолевых синдромов других локализаций, для которых характерен аутосомно-доминантный тип наследования, некоторые разновидности РТК наследуются по аутосомно-рецессивному механизму. Изучение наследственного РТК способствует разработке новых подходов к терапии спорадических опухолей толстой кишки, имеющих соматические повреждения в тех же генах.

Заключение

Заключение. В обзоре представлены подробные сведения о генетических причинах, механизмах канцерогенеза и клинических особенностях как хорошо известных, так и недавно открытых типов наследственного РТК.

Objective

Objective: to summarize existing information on hereditary types of colorectal cancer.

Material and Methods

Material and Methods. A literature search was conducted in the Medline, Cochrane Library, and Elibrary databases, including publications from January 2002 to October 2025. Out of 3000 studies found, 79 were used to write this systematic review.

Results

Results. Well-known hereditary colorectal cancer (CRC) varieties account for up to 4-5 % of all colorectal cancer cases. In addition to familial adenomatous polyposis, Lynch syndrome, and MUTYH-associated polyposis, at least 15 other, rarer nosological forms of hereditary CRC can be identified. Each of these diseases has a distinct clinical presentation and biological nature. These characteristics lead to differences in approaches to the prevention and treatment of various hereditary CRC subtypes. Unlike most hereditary tumor syndromes of other sites, which are typically autosomal dominant, some types of CRC are inherited via an autosomal recessive mechanism. The study of hereditary CRC contributes to the development of new approaches for treating sporadic colorectal tumors with somatic mutations in the same genes.

Conclusion

Conclusion. This review provides detailed information on the genetic causes, mechanisms of carcinogenesis, and clinical features of both well-known and recently discovered types of hereditary CRC.

наследственный колоректальный ракгенетическая предрасположенностьполипоз толстой кишкисиндром Линчасемейный аденоматозный полипоз (САП)MUTYH-ассоциированный полипоз (МАП)микросателлитная нестабильностьгипермутабельные опухоликанцерогенезтрансляционные исследованияcolorectal neoplasmsgenetic predisposition to diseasecolonic polypslynch syndromefamilial adenomatous polyposisMUTYH-associated polyposismicrosatellite instabilitymutation burdencarcinogenesistranslational medical researchРабота выполнена при поддержке гранта РНФ № 23-15-00461This work was supported by the RSF grant No. 23-15-00461ReferencesWin A.K., Jenkins M.A., Dowty J.G., Antoniou A.C., Lee A., Giles G.G., Buchanan D.D., Clendenning M., Rosty C., Ahnen D.J., Thibodeau S.N., Casey G., Gallinger S., le Marchand L., Haile R.W., Potter J.D., Zheng Y., Lindor N.M., Newcomb P.A., Hopper J.L., MacInnis R.J. Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer. 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The authors declare that there are no conflicts of interest present.