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Gut. Oct 2002; 51(Suppl 5): v21–v27.
PMCID: PMC1867741

Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndrome

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Selected References

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  • Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum. 1991 May;34(5):424–425. [PubMed]
  • Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999 Jun;116(6):1453–1456. [PubMed]
  • Rodriguez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM, Lynch H, Perucho M, Smyrk T, Sobin L, et al. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst. 1997 Dec 3;89(23):1758–1762. [PubMed]
  • Papadopoulos N, Lindblom A. Molecular basis of HNPCC: mutations of MMR genes. Hum Mutat. 1997;10(2):89–99. [PubMed]
  • Peltomäki P, Vasen HF. Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Gastroenterology. 1997 Oct;113(4):1146–1158. [PubMed]
  • Farrington SM, Lin-Goerke J, Ling J, Wang Y, Burczak JD, Robbins DJ, Dunlop MG. Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. Am J Hum Genet. 1998 Sep;63(3):749–759. [PMC free article] [PubMed]
  • Wijnen JT, Vasen HF, Khan PM, Zwinderman AH, van der Klift H, Mulder A, Tops C, Møller P, Fodde R. Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med. 1998 Aug 20;339(8):511–518. [PubMed]
  • Syngal S, Fox EA, Li C, Dovidio M, Eng C, Kolodner RD, Garber JE. Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing. JAMA. 1999 Jul 21;282(3):247–253. [PubMed]
  • Liu B, Farrington SM, Petersen GM, Hamilton SR, Parsons R, Papadopoulos N, Fujiwara T, Jen J, Kinzler KW, Wyllie AH, et al. Genetic instability occurs in the majority of young patients with colorectal cancer. Nat Med. 1995 Apr;1(4):348–352. [PubMed]
  • Vasen HF, Taal BG, Nagengast FM, Griffioen G, Menko FH, Kleibeuker JH, Offerhaus GJ, Meera Khan P. Hereditary nonpolyposis colorectal cancer: results of long-term surveillance in 50 families. Eur J Cancer. 1995 Jul-Aug;31A(7-8):1145–1148. [PubMed]
  • Aarnio M, Mecklin JP, Aaltonen LA, Nyström-Lahti M, Järvinen HJ. Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer. 1995 Dec 20;64(6):430–433. [PubMed]
  • Dunlop MG, Farrington SM, Carothers AD, Wyllie AH, Sharp L, Burn J, Liu B, Kinzler KW, Vogelstein B. Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet. 1997 Jan;6(1):105–110. [PubMed]
  • Bülow S. Familial adenomatous polyposis. Ann Med. 1989 Aug;21(4):299–307. [PubMed]
  • Wallis YL, Morton DG, McKeown CM, Macdonald F. Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition. J Med Genet. 1999 Jan;36(1):14–20. [PMC free article] [PubMed]
  • van der Luijt RB, Khan PM, Vasen HF, Tops CM, van Leeuwen-Cornelisse IS, Wijnen JT, van der Klift HM, Plug RJ, Griffioen G, Fodde R. Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis. Hum Mutat. 1997;9(1):7–16. [PubMed]
  • Spirio L, Olschwang 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 Dec 3;75(5):951–957. [PubMed]
  • Belchetz LA, Berk T, Bapat BV, Cohen Z, Gallinger S. Changing causes of mortality in patients with familial adenomatous polyposis. Dis Colon Rectum. 1996 Apr;39(4):384–387. [PubMed]
  • Galle TS, Juel K, Bülow S. Causes of death in familial adenomatous polyposis. Scand J Gastroenterol. 1999 Aug;34(8):808–812. [PubMed]
  • Bisgaard ML, Fenger K, Bülow S, Niebuhr E, Mohr J. Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat. 1994;3(2):121–125. [PubMed]
  • Utsunomiya J, Gocho H, Miyanaga T, Hamaguchi E, Kashimure A. Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins Med J. 1975 Feb;136(2):71–82. [PubMed]
  • Tomlinson IP, Houlston RS. Peutz-Jeghers syndrome. J Med Genet. 1997 Dec;34(12):1007–1011. [PMC free article] [PubMed]
  • Giardiello FM, Welsh SB, Hamilton SR, Offerhaus GJ, Gittelsohn AM, Booker SV, Krush AJ, Yardley JH, Luk GD. Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med. 1987 Jun 11;316(24):1511–1514. [PubMed]
  • Spigelman AD, Murday V, Phillips RK. Cancer and the Peutz-Jeghers syndrome. Gut. 1989 Nov;30(11):1588–1590. [PMC free article] [PubMed]
  • Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, Warren W, Aminoff M, Höglund P, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature. 1998 Jan 8;391(6663):184–187. [PubMed]
  • Boardman LA, Couch FJ, Burgart LJ, Schwartz D, Berry R, McDonnell SK, Schaid DJ, Hartmann LC, Schroeder JJ, Stratakis CA, et al. Genetic heterogeneity in Peutz-Jeghers syndrome. Hum Mutat. 2000;16(1):23–30. [PubMed]
  • Westerman AM, Entius MM, Boor PP, Koole R, de Baar E, Offerhaus GJ, Lubinski J, Lindhout D, Halley DJ, de Rooij FW, et al. Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families. Hum Mutat. 1999;13(6):476–481. [PubMed]
  • Nugent KP, Talbot IC, Hodgson SV, Phillips RK. Solitary juvenile polyps: not a marker for subsequent malignancy. Gastroenterology. 1993 Sep;105(3):698–700. [PubMed]
  • Howe JR, Mitros FA, Summers RW. The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg Oncol. 1998 Dec;5(8):751–756. [PubMed]
  • Scott-Conner CE, Hausmann M, Hall TJ, Skelton DS, Anglin BL, Subramony C. Familial juvenile polyposis: patterns of recurrence and implications for surgical management. J Am Coll Surg. 1995 Nov;181(5):407–413. [PubMed]
  • Howe JR, Roth S, Ringold JC, Summers RW, Järvinen HJ, Sistonen P, Tomlinson IP, Houlston RS, Bevan S, Mitros FA, et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science. 1998 May 15;280(5366):1086–1088. [PubMed]
  • Roth S, Sistonen P, Salovaara R, Hemminki A, Loukola A, Johansson M, Avizienyte E, Cleary KA, Lynch P, Amos CI, et al. SMAD genes in juvenile polyposis. Genes Chromosomes Cancer. 1999 Sep;26(1):54–61. [PubMed]
  • Woodford-Richens K, Bevan S, Churchman M, Dowling B, Jones D, Norbury CG, Hodgson SV, Desai D, Neale K, Phillips RK, et al. Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. Gut. 2000 May;46(5):656–660. [PMC free article] [PubMed]
  • Yoon KA, Ku JL, Choi HS, Heo SC, Jeong SY, Park YJ, Kim NK, Kim JC, Jung PM, Park JG. Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients. Br J Cancer. 2000 Apr;82(8):1403–1406. [PMC free article] [PubMed]
  • Huang SC, Chen CR, Lavine JE, Taylor SF, Newbury RO, Pham TT, Ricciardiello L, Carethers JM. Genetic heterogeneity in familial juvenile polyposis. Cancer Res. 2000 Dec 15;60(24):6882–6885. [PubMed]
  • Olschwang S, Serova-Sinilnikova OM, Lenoir GM, Thomas G. PTEN germ-line mutations in juvenile polyposis coli. Nat Genet. 1998 Jan;18(1):12–14. [PubMed]
  • Kee F, Collins BJ. How prevalent is cancer family syndrome? Gut. 1991 May;32(5):509–512. [PMC free article] [PubMed]
  • Mecklin JP, Järvinen HJ, Hakkiluoto A, Hallikas H, Hiltunen KM, Härkönen N, Kellokumpu I, Laitinen S, Ovaska J, Tulikoura J, et al. Frequency of hereditary nonpolyposis colorectal cancer. A prospective multicenter study in Finland. Dis Colon Rectum. 1995 Jun;38(6):588–593. [PubMed]
  • Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomäki P, Chadwick RB, Käriäinen H, Eskelinen M, Järvinen H, et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med. 1998 May 21;338(21):1481–1487. [PubMed]
  • Dunlop MG, Farrington SM, Nicholl I, Aaltonen L, Petersen G, Porteous M, Carothers A. Population carrier frequency of hMSH2 and hMLH1 mutations. Br J Cancer. 2000 Dec;83(12):1643–1645. [PMC free article] [PubMed]
  • Houlston RS, Collins A, Slack J, Morton NE. Dominant genes for colorectal cancer are not rare. Ann Hum Genet. 1992 May;56(Pt 2):99–103. [PubMed]
  • Bülow S, Bülow C, Nielsen TF, Karlsen L, Moesgaard F. Centralized registration, prophylactic examination, and treatment results in improved prognosis in familial adenomatous polyposis. Results from the Danish Polyposis Register. Scand J Gastroenterol. 1995 Oct;30(10):989–993. [PubMed]
  • Dajani YF, Kamal MF. Colorectal juvenile polyps: an epidemiological and histopathological study of 144 cases in Jordanians. Histopathology. 1984 Sep;8(5):765–779. [PubMed]
  • Aitken J, Bain C, Ward M, Siskind V, MacLennan R. How accurate is self-reported family history of colorectal cancer? Am J Epidemiol. 1995 May 1;141(9):863–871. [PubMed]
  • Kerber RA, Slattery ML. Comparison of self-reported and database-linked family history of cancer data in a case-control study. Am J Epidemiol. 1997 Aug 1;146(3):244–248. [PubMed]
  • Rodríguez-Bigas MA, Lee PH, O'Malley L, Weber TK, Suh O, Anderson GR, Petrelli NJ. Establishment of a hereditary nonpolyposis colorectal cancer registry. Dis Colon Rectum. 1996 Jun;39(6):649–653. [PubMed]
  • Myrhøj T, Bernstein I, Bisgaard ML, Svendsen LB, Sondergaard JO, Mohr J, Dahl S, Bülow S. The establishment of an HNPCC register. Anticancer Res. 1994 Jul-Aug;14(4B):1647–1650. [PubMed]
  • Madlensky L, Berk TC, Bapat BV, McLeod RS, Couture J, Baron D, Hiruki T, Redston M, Cohen Z, Gallinger S. A preventive registry for hereditary nonpolyposis colorectal cancer. Can J Oncol. 1995 Jul;5(2):355–360. [PubMed]
  • Järvinen HJ, Aarnio M, Mustonen H, Aktan-Collan 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 May;118(5):829–834. [PubMed]
  • Vasen HF, Mecklin JP, Watson P, Utsunomiya J, Bertario L, Lynch P, Svendsen LB, Cristofaro G, Müller H, Khan PM, et al. Surveillance in hereditary nonpolyposis colorectal cancer: an international cooperative study of 165 families. The International Collaborative Group on HNPCC. Dis Colon Rectum. 1993 Jan;36(1):1–4. [PubMed]
  • Myrhøj T, Bisgaard ML, Bernstein I, Svendsen LB, Søndergaard JO, Bülow S. Hereditary non-polyposis colorectal cancer: clinical features and survival. Results from the Danish HNPCC register. Scand J Gastroenterol. 1997 Jun;32(6):572–576. [PubMed]
  • Vasen HF, Wijnen JT, Menko FH, Kleibeuker JH, Taal BG, Griffioen G, Nagengast FM, Meijers-Heijboer EH, Bertario L, Varesco L, et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology. 1996 Apr;110(4):1020–1027. [PubMed]
  • 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 Apr 12;81(2):214–218. [PubMed]
  • Vasen HF, Nagengast FM, Khan PM. Interval cancers in hereditary non-polyposis colorectal cancer (Lynch syndrome) Lancet. 1995 May 6;345(8958):1183–1184. [PubMed]
  • Lynch HT, Smyrk TC, Watson P, Lanspa SJ, Lynch JF, Lynch PM, Cavalieri RJ, Boland CR. Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterology. 1993 May;104(5):1535–1549. [PubMed]
  • Church JM. Prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer. Ann Med. 1996 Dec;28(6):479–482. [PubMed]
  • Rodríguez-Bigas MA, Vasen HF, Pekka-Mecklin J, Myrhøj T, Rozen P, Bertario L, Järvinen HJ, Jass JR, Kunitomo K, Nomizu T, et al. Rectal cancer risk in hereditary nonpolyposis colorectal cancer after abdominal colectomy. International Collaborative Group on HNPCC. Ann Surg. 1997 Feb;225(2):202–207. [PMC free article] [PubMed]
  • Morton DG, Macdonald F, Haydon J, Cullen R, Barker G, Hultén M, Neoptolemos JP, Keighley MR, McKeown C. Screening practice for familial adenomatous polyposis: the potential for regional registers. Br J Surg. 1993 Feb;80(2):255–258. [PubMed]
  • De Cosse JJ, Bülow S, Neale K, Järvinen H, Alm T, Hultcrantz R, Moesgaard F, Costello C. Rectal cancer risk in patients treated for familial adenomatous polyposis. The Leeds Castle Polyposis Group. Br J Surg. 1992 Dec;79(12):1372–1375. [PubMed]
  • Nugent KP, Phillips RK. Rectal cancer risk in older patients with familial adenomatous polyposis and an ileorectal anastomosis: a cause for concern. Br J Surg. 1992 Nov;79(11):1204–1206. [PubMed]
  • Debinski HS, Love S, Spigelman AD, Phillips RK. Colorectal polyp counts and cancer risk in familial adenomatous polyposis. Gastroenterology. 1996 Apr;110(4):1028–1030. [PubMed]
  • Vasen HF, van der Luijt RB, Slors JF, Buskens E, de Ruiter P, Baeten CG, Schouten WR, Oostvogel HJ, Kuijpers JH, Tops CM, et al. Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis. Lancet. 1996 Aug 17;348(9025):433–435. [PubMed]
  • Bülow C, Vasen H, Järvinen H, Björk J, Bisgaard ML, Bülow S. Ileorectal anastomosis is appropriate for a subset of patients with familial adenomatous polyposis. Gastroenterology. 2000 Dec;119(6):1454–1460. [PubMed]
  • Vasen HF, van Ballegooijen M, Buskens E, Kleibeuker JK, Taal BG, Griffioen G, Nagengast FM, Menko FH, Meera Khan P. A cost-effectiveness analysis of colorectal screening of hereditary nonpolyposis colorectal carcinoma gene carriers. Cancer. 1998 May 1;82(9):1632–1637. [PubMed]
  • Spigelman AD, Talbot IC, Penna C, Nugent KP, Phillips RK, Costello C, DeCosse JJ. Evidence for adenoma-carcinoma sequence in the duodenum of patients with familial adenomatous polyposis. The Leeds Castle Polyposis Group (Upper Gastrointestinal Committee). J Clin Pathol. 1994 Aug;47(8):709–710. [PMC free article] [PubMed]
  • Spigelman AD, Williams CB, Talbot IC, Domizio P, Phillips RK. Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet. 1989 Sep 30;2(8666):783–785. [PubMed]
  • Vasen HF, Bülow S, Myrhøj T, Mathus-Vliegen L, Griffioen G, Buskens E, Taal BG, Nagengast F, Slors JF, de Ruiter P. Decision analysis in the management of duodenal adenomatosis in familial adenomatous polyposis. Gut. 1997 Jun;40(6):716–719. [PMC free article] [PubMed]
  • Penna C, Phillips RK, Tiret E, Spigelman AD. Surgical polypectomy of duodenal adenomas in familial adenomatous polyposis: experience of two European centres. Br J Surg. 1993 Aug;80(8):1027–1029. [PubMed]
  • Waye JD, Lewis BS, Yessayan S. Colonoscopy: a prospective report of complications. J Clin Gastroenterol. 1992 Dec;15(4):347–351. [PubMed]
  • Kewenter J, Brevinge H. Endoscopic and surgical complications of work-up in screening for colorectal cancer. Dis Colon Rectum. 1996 Jun;39(6):676–680. [PubMed]
  • Jørgensen OD, Kronborg O, Fenger C. The Funen Adenoma Follow-up Study. Incidence and death from colorectal carcinoma in an adenoma surveillance program. Scand J Gastroenterol. 1993 Oct;28(10):869–874. [PubMed]
  • Puchner R, Allinger S, Doblhofer F, Wallner M, Knoflach P. Komplikationen der diagnostischen und interventionellen Koloskopie. Wien Klin Wochenschr. 1996;108(5):142–146. [PubMed]
  • Wijnen J, Khan PM, Vasen H, van der Klift H, Mulder A, van Leeuwen-Cornelisse I, Bakker B, Losekoot M, Møller P, Fodde R. Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations. Am J Hum Genet. 1997 Aug;61(2):329–335. [PMC free article] [PubMed]
  • Thomas HJ, Whitelaw SC, Cottrell SE, Murday VA, Tomlinson IP, Markie D, Jones T, Bishop DT, Hodgson SV, Sheer D, et al. Genetic mapping of hereditary mixed polyposis syndrome to chromosome 6q. Am J Hum Genet. 1996 Apr;58(4):770–776. [PMC free article] [PubMed]

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