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Acta Chirurgica Latviensis

The Journal of Riga Stradins University; Latvian Association of Surgeons; Latvian Association of Paediatric Surgeons

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The Concept, Diagnostics, Surgical Prevention and Treatment of Hereditary Colorectal Cancer in Nowadays Medicine

Andrejs Vanags1 / Ilze Strumfa1 / Arnis Abolins1 / Andris Gardovskis1 / Inga Melbarde-Gorkusa1 / Genadijs Trofimovics1 / Janis Gardovskis1

Hereditary Cancer Institute, Riga Stradins University, Riga, Latvia1

This content is open access.

Citation Information: Acta Chirurgica Latviensis. Volume 10, Issue 2, Pages 80–85, ISSN (Print) 1407-981X, DOI: https://doi.org/10.2478/v10163-011-0016-y, April 2011

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The Concept, Diagnostics, Surgical Prevention and Treatment of Hereditary Colorectal Cancer in Nowadays Medicine

Colorectal cancer is a frequent cause of oncological morbidity and mortality. It is the second most common cancer in Europe (13.0%) almost matching the frequency of lung cancer, the most widespread malignancy (13.2%). In European Union countries colorectal cancer is the most frequent tumour. Colorectal cancer is also the second most common cause of cancer death in Europe accounting for 11.9% of cancer-related mortality (4). In 20% of colorectal cancer patients, genetic background exists. However, the discovered genetic mutations related to high lifetime risk of colorectal cancer account only for 5-6% of colorectal cancer cases (27). The two main hereditary cancer syndromes involving the large bowel are familial adenomatous polyposis, responsible for 1% of the annual colorectal cancer burden, and hereditary non-polyposis colorectal cancer that accounts for 2-3% of colorectal cancer cases (9). Both syndromes are remarkable not only by the scientific novelty in hereditary cancer research but only for high practical significance as the knowledge about the peculiar risk of primary and metachronous colorectal cancer as well as about certain extracolonic malignancies is necessary to plan the surgical intervention correctly.

Keywords: colorectal cancer; familial adenomatous polyposis; hereditary non-polyposis colorectal cancer

  • Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A, Peltomäki P, Mecklin JP, Järvinen HJ. Cancer risk in mutation carriers of DNA-mismatch-repair genes // Int J Cancer, 1999; 81:214-218

  • Barrow E, Robinson L, Alduaij W, Shenton A, Clancy T, Lalloo F, Hill J, Evans DG. Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations // Clin Genet, 2009; 75(2):141-149 [Web of Science]

  • Bertario L, Russo A, Radice P, Varesco L, Eboli M, Spinelli P, Reyna A, Sala P. Genotype and phenotype factors as determinants for rectal stump cancer in patients with familial adenomatous polyposis. Hereditary Colorectal Tumors Registry // Ann Surg, 2000; 231:538-543

  • Boyle P and Ferlay J. Cancer incidence and mortality in Europe, 2004 // Ann Oncol, 2005; 16: 481-488

  • Church J, Burke C, MsGannon E, Pastean O, Clark B. Predicting polyposis severity by proctoscopy: how reliable is it? // Dis Colon Rectum, 2001; 44:1249-1254

  • Church J, Simmang C. Practice parameters for the treatment of patients with dominantly inherited colorectal cancer (familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer) // Dis Colon Rectum, 2003; 46:1001-1012

  • Giardiello FM, Brensinger JD, Luce MC, Petersen GM, Cayouette MC, Krush AJ, Bacon JA, Booker SV, Bufill JA, Hamilton SR. Phenotypic expression in adenomatous polyposis families with mutation in the 5' region of the adenomatous polyposis coli gene // Ann Intern Med 1997; 126:514-519

  • Goecke T, Schulmann K, Engel C, Holinski-Feder E, Pagenstecher C, Schackert HK, Kloor M, Kuntsmann E, Vogelsang H, Keller G, Dietmaier W, Mangold E et al. Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: A report by the German HNPCC Consortium // J Clin Oncol, 2006; 24:1-8

  • Guillem JG, Wood WC, Moley JF, Berchuck A, Karlan BY, Mutch DG, Gagel RF, Weitzel J, Morrow M, Weber BL, Giardiello F, Rodriguez-Bigas MA, Church J, Gruber S, Offit K. ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes // Ann Surg Oncol, 2006; 13:1296-1321 [Crossref] [PubMed]

  • Gylling AH, Nieminen TT, Abdel-Rahman WM, Nuorva K, Juhola M, Joensuu EI, Järvinen HJ, Mecklin JP, Aarnio M, Peltomäki PT. Differential cancer predisposition in Lynch syndrome: insights from molecular analysis of brain and urinary tract tumors // Carcinogenesis, 2008; 29(7):1351-1359 [Crossref] [PubMed] [Web of Science]

  • Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Nakagawa H, Sotamaa K, Prior TW, Westman J, Panescu J, Fix D, Lockman J, Comeras I, de la Chapelle A. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer) // N Engl J Med, 2005; 352: 1851-1860

  • Hampel H, Sweet K, Westman JA, Offit K, Eng C. Referral for cancer genetics consultation: a review and compilation of risk assessment criteria // J Med Genet, 2004; 41:81-91

  • Koornstra JJ, Mourits MJ, Sijmons RH, Leliveld AM, Hollema H, Kleibeuker JH, Management of extracolonic tumours in patients with Lynch syndrome // Lancet Oncol, 2009; 10(4):400-40 Laken, S. J., Petersen, G. M., Gruber, S. B., Oddoux, C., Ostrer, H., Giardiello, F. M., Hamilton, S. R., Hampel, H., Markowitz, A., Klimstra, D., Jhanwar, S., Winawer, S., Offit, K., Luce, M. C., Kinzler, K. W., Vogelstein, B. Familial colorectal cancer in Askenazim due to a hypermutable tract in, A. P. C. // Nature Genet, 1997; 17:79-83 [Crossref]

  • Laurent-Puig P, Beroud C, Soussi T. APC gene: database of germline and somatic mutations in human tumors and cell lines // Nucl Acids Res, 1998; 26:269-270

  • Lee JS, Petrelli NJ, Rodrigues-Bigas MA. Rectal cancer in hereditary nonpolyposis colorectal cancer // Am J Surg, 2001; 181:207-210

  • Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med, 2003; 348(10):919-932

  • Lynch HT, Shaw MW, Magnuson CW, Larsen AL, Krush AJ. Hereditary factors in two large midwestern kindreds // Arch Intern Med, 1996; 117:206-212

  • Manchada R, Menon U, Michaelson-Cohen R, Beller U, Jacobs I. Hereditary non-polyposis colorectal cancer or Lynch syndrome: the gynaecological perspective // Curr Opin Obstet Gynecol, 2009; 21(1):31-38 [Web of Science] [Crossref]

  • Park YJ, Shin KH, Park JG. Risk of gastric cancer in hereditary nonpolyposis colorectal cancer in Korea // Clin Cancer Res, 2000; 6:2994-2998 [PubMed]

  • Sampson JR, Dolwani S, Jones S, Eccles D, Ellis A, Evans DG, Frayling I, Jordan S, Maher ER, Mak T, Maynard J, Pigatto F, Shaw J, Cheadle JP. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH // Lancet, 2003; 362:39-41

  • Scaife CL, Rodriguez-Bigas MA. Lynch syndrome: implications for the surgeon // Clin Colorectal Cancer, 2003; 3:92-98 [PubMed] [Crossref]

  • Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Philipps RK, Bisgaard ML, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJ, Tomlinson IP. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH // N Engl J Med, 2003; 348(9):791-799

  • Soravia C, Berk T, McLeod RS, Cohen Z. Desmoid disease in patients with familial adenomatous polyposis // Dis Colon Rectum, 2000; 43:363-369

  • Spirio L, Olscwang S, Groden J, Robertson M, Samowitz W, Joslyn G, Gelbert L, Thliveris A, Carlson M, Otterud B et al. Alleles of the APC gene: an attenuated form of familial polyposis // Cell, 1993; 75:951-957

  • Tomlinson I, Rahman N, Frayling I, Mangion J, Barfoot R, Hamoudi R, Seal S, Northover J, Thomas HJ, Neale K, Hodgson S, Talbot I, Houlston R, Stratton MR. Inherited susceptibility to colorectal adenomas and carcinomas. Evidence for a new predisposition gene on 15q14-q22 // Gastroenterology, 1999; 116:789-795

  • Trimbath JD, Giardiello FM. Review article: genetic testing and counselling for hereditary colorectal cancer // Aliment Pharmacol Ther, 2002; 16: 1843-1857 [PubMed] [Crossref]

  • Vasen HF, Nagengast FM, Khan PM. Interval cancers in hereditary non-polyposis colorectal cancer (Lynch syndrome) // Lancet, 1995; 345:1183-1184

  • Vasen HF, van der Luijt RB, Slors JF, Buskens E, de Ruiter P, Baeten CG, Schouten WR, Oostvogel HJ, Kuijpers JH, Tops CM, Meera Khan P. Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis // Lancet, 1996; 348:433-435

  • Watson P, Lynch HT. Extracolonic cancer in hereditary nonpolyposis colorectal cancer // Cancer, 1993; 71:677-685

  • Watson P, Vasen HF, Mecklin JP, Bernstein I, Aarnio M, Järvinen HJ, Myrhøj T, Sunde L, Wijnen JT, Lynch HT. The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome // Int J Cancer, 2008; 123(2): 444-449

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