Email this article The role of hereditary colorectal cancer registries in identification of high risk patients and treatment improvement
- Authors: Pikunov D.Y.1, Toboeva M.K.2, Tsukanov A.S.1
-
Affiliations:
- State Scientific Centre of Coloproctology
- Russian Medical Academy of Continuous Professional Education
- Issue: Vol 46, No 1 (2018)
- Pages: 16-22
- Section: REVIEW ARTICLE
- URL: https://almclinmed.ru/jour/article/view/752
- DOI: https://doi.org/10.18786/2072-0505-2018-46-1-16-22
- ID: 752
Cite item
Full Text
Abstract
Up to 10% of cases of sporadic colorectal cancer are considered to be related to hereditary genetic factors. The rates of colorectal cancer related to already identified genetic factors is about 5%. In the last decades, due to the development of comprehensive familial cancer registries and progress in genomics, clinical diagnostic criteria for specific hereditary syndromes have been proposed and multiple genes have been detected whose germ mutations increase the risk of neoplastic syndromes. Identification of individual patients and families with hereditary syndromes (familial adenomatous polyposis, Lynch syndrome, MYH-associated polyposis, hamartoma syndromes) may help to develop an effective strategy for monitoring and, as the results, for reduction of cancer incidence and improvement of survival. The aim of this literature review is to assess the influence of the registries of patients with hereditary types of colorectal cancer on its incidence and long-term treatment results.
About the authors
D. Yu. Pikunov
State Scientific Centre of Coloproctology
Author for correspondence.
Email: pikunov.gnck@mail.ru
Dmitriy Yu. Pikunov – MD, PhD, Research Associate, Department of Oncoproctology.
2 Salyama Adilya ul., Moscow, 123423, +7 (499) 199 25 54 РоссияM. Kh. Toboeva
Russian Medical Academy of Continuous Professional Education
Email: fake@neicon.ru
Margarita Kh. Toboeva – MD, Chair of Coloproctology.
2/1 Barrikadnaya ul., Moscow, 125993
РоссияA. S. Tsukanov
State Scientific Centre of Coloproctology
Email: fake@neicon.ru
Aleksey S. Tsukanov – MD, PhD, Head of Department of Clinical Genetic
Salyama Adilya ul., Moscow, 123423
РоссияReferences
- Овчинников ЕН, Стогов ЕМ, Чегуров ОК. Медицинские регистры как инструмент менеджмента качества: аналитический обзор. Экономический анализ: теория и практика. 2016;(8): 98–107.
- Ягудина РИ, Литвиненко ММ, Сороковиков ИВ. Регистры пациентов: структура, функции, возможности использования. Фармакоэкономика. Современная фармакоэкономика и фармакоэпидемиология. 2011;4(4): 3–7.
- Gliklich RE, Dreyer NA, editors. Registries for evaluating patient outcomes: a user's guide. AHRQ Publication No. 07-EHC001-1. Rockville, MD: Agency for Healthcare Research and Quality; 2007. 219 p.
- Noe L, Larson L, Trotter J, Ovation Research Group. Utilizing patient registries to support health economics research: integrating observational data with economic analyses, models, and other applications [Internet]. The Official News & Technical Journal Of The International Society For Pharmacoeconomics And Outcomes Research. Available from: https://www.ispor.org/news/articles/oct05/patient_registr.asp.
- Lockhart-Mummery P. Cancer and heredity. Lancet. 1925;205(5296): 427–9. doi: 10.1016/S0140-6736(00)95996-8.
- Каприн АД, Старинский ВВ, Петрова ГВ, ред. Злокачественные новообразования в России в 2015 году (заболеваемость и смертность). М.: МНИОИ им. П.А. Герцена – филиал ФГБУ «НМИРЦ» Минздрава России; 2017. 250 с.
- Kastrinos F, Syngal S. Inherited colorectal cancer syndromes. Cancer J. 2011;17(6): 405–15. doi: 10.1097/PPO.0b013e318237e408.
- Цуканов АС, Шелыгин ЮА, Семенов ДА, Пикунов ДЮ, Поляков АВ. Синдром Линча. Современное состояние проблемы. Медицинская генетика. 2017;16(2): 11–8.
- Шелыгин ЮА, Кашников ВН, Фролов СА, Кузьминов АМ, Сачков ИЮ, Порхаева АА, Завадский СВ, Шубин ВП, Поспехова НИ, Цуканов АС. Молекулярно-генетическое исследование наследственной предрасположенности к разным формам полипоза толстой кишки. Колопроктология. 2013;1(43): 9–14.
- Schlussel AT, Gagliano RA Jr, Seto-Donlon S, Eggerding F, Donlon T, Berenberg J, Lynch HT. The evolution of colorectal cancer genetics – Part 1: from discovery to practice. J Gastrointest Oncol. 2014;5(5): 326–35. doi: 10.3978/j.issn.2078-6891.2014.069.
- Mallinson EK, Newton KF, Bowen J, Lalloo F, Clancy T, Hill J, Evans DG. The impact of screening and genetic registration on mortality and colorectal cancer incidence in familial adenomatous polyposis. Gut. 2010;59(10): 1378– 82. doi: 10.1136/gut.2010.212449.
- Gibbons DC, Sinha A, Phillips RK, Clark SK. Colorectal cancer: no longer the issue in familial adenomatous polyposis? Fam Cancer. 2011;10(1): 11–20. doi: 10.1007/s10689-0109394-x.
- Bülow S. Results of national registration of familial adenomatous polyposis. Gut. 2003;52(5): 742–6. doi: 10.1136/gut.52.5.742.
- 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(13): 1719–31. doi: 10.1002/bjs.9316.
- Bonadona V, Bonaïti B, Olschwang S, Grandjouan S, Huiart L, Longy M, Guimbaud R, Buecher B, Bignon YJ, Caron O, Colas C, Noguès C, Lejeune-Dumoulin S, Olivier-Faivre L, PolycarpeOsaer F, Nguyen TD, Desseigne F, Saurin JC, Berthet P, Leroux D, Duffour J, Manouvrier S, Frébourg T, Sobol H, Lasset C, Bonaïti-Pellié C; French Cancer Genetics Network. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA. 2011;305(22): 2304–10. doi: 10.1001/jama.2011.743.
- Järvinen HJ, Aarnio M, Mustonen H, AktanCollan K, Aaltonen LA, Peltomäki P, De La Chapelle A, Mecklin JP. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 2000;118(5): 829–34. doi: 10.1016/S0016-5085(00)70168-5.
- Stupart DA, Goldberg PA, Algar U, Ramesar R. Cancer risk in a cohort of subjects carrying a single mismatch repair gene mutation. Fam Cancer. 2009;8(4): 519–23. doi: 10.1007/s10689009-9281-5.
- de Jong AE, Hendriks YM, Kleibeuker JH, de Boer SY, Cats A, Griffioen G, Nagengast FM, Nelis FG, Rookus MA, Vasen HF. Decrease in mortality in Lynch syndrome families because of surveillance. Gastroenterology. 2006;130(3): 665–71. doi: 10.1053/j.gastro.2005.11.032.
- Church J, Kiringoda R, LaGuardia L. Inherited colorectal cancer registries in the United States. Dis Colon Rectum. 2004;47(5): 674–8. doi: 10.1007/s10350-003-0115-5.
- Цуканов АС, Поспехова НИ, Шубин ВП, Кузьминов АМ, Кашников ВН, Фролов СА, Шелыгин ЮА. Мутации в гене APC у российских пациентов с классической формой семейного аденоматоза толстой кишки. Генетика. 2017;53(3): 356–63. doi: 10.7868/S0016675817030134.
Supplementary files
