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Polyposis Syndromes and Colorectal Cancer Predisposition

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Anorectal and Colonic Diseases

Abstract

Colorectal polyps are common, affecting 25% of the population by age 75 years. However, the presence of multiple polyps, particularly in association with a personal or family history of colorectal cancer, should raise suspicion of a polyposis syndrome. The last decade has witnessed a dramatic increase in our understanding of polyposis syndromes and colorectal cancer predisposition. Here we discuss the polyposis syndromes that have been characterised to date and the implications for clinical practice (Table 33.1). Familial adenomatous polyposis provided the first example where the genetic lesion responsible for a dominantly inherited predisposition to cancer was elucidated, and it provided a window into the adenoma carcinoma sequence of sporadic cancer.

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References

  1. Bisgaard ML, Fenger K, Bulow S, Niebuhr E, Mohr J. Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat 1994; 3:121–125

    Article  CAS  PubMed  Google Scholar 

  2. Bulow S, Bulow 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; 30:989–993

    Article  CAS  PubMed  Google Scholar 

  3. Groves CJ, Saunders BP, Spigelman AD, Phillips RK. Duodenal cancer in patients with familial adenomatous polyposis (FAP): results of a 10 year prospective study. Gut 2002; 50:636–641

    Article  CAS  PubMed  Google Scholar 

  4. Poritz LS, Blackstein M, Berk T, Gallinger S, McLeod RS, Cohen Z. Extended follow-up of patients treated with cytotoxic chemotherapy for intra-abdominal desmoid tumors. Dis Colon Rectum 2001; 44:1268–1273

    Article  CAS  PubMed  Google Scholar 

  5. Arvanitis ML, Jagelman DG, Fazio VW, Lavery IC, McGannon E. Mortality in patients with familial adenomatous polyposis. Dis Colon Rectum 1990; 33:639–642

    Article  CAS  PubMed  Google Scholar 

  6. Rustgi AK. Hereditary gastrointestinal polyposis and nonpolyposis syndromes. N Engl J Med 1994; 331:1694–1702

    Article  CAS  PubMed  Google Scholar 

  7. Bodmer WF, Bailey CJ, Bodmer J, Bussey HJ, Ellis A, Gorman P, Lucibello FC, Murday VA, Rider SH, Scambler P, et al. Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 1987; 328:614–616

    Article  CAS  PubMed  Google Scholar 

  8. Leppert M, Dobbs M, Scambler P, O’Connell P, Nakamura Y, Stauffer D, Woodward S, Burt R, Hughes J, Gardner E, et al. The gene for familial polyposis coli maps to the long arm of chromosome 5. Science 1987; 238:1411–1413

    Article  CAS  PubMed  Google Scholar 

  9. Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hedge P, McKechnie D, et al. Identification of FAP locus genes from chromosome 5q21. Science 1991; 253:661–665

    Article  CAS  PubMed  Google Scholar 

  10. Joslyn G, Carlson M, Thliveris A, Albertsen H, Gelbert L, Samowitz W, Groden J, Stevens J, Spirio L, Robertson M, et al. Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 1991; 66:601–613

    Article  CAS  PubMed  Google Scholar 

  11. Nagase H, Nakamura Y. Mutations of the APC (adenomatous polyposis coli) gene. Hum Mutat 1993; 2:425–434

    Article  CAS  PubMed  Google Scholar 

  12. Mandl M, Paffenholz R, Friedl W, Caspari R, Sengteller M, Propping P. Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis. Hum Mol Genet 1994; 3:181–184

    Article  CAS  PubMed  Google Scholar 

  13. Nagase H, Miyoshi Y, Horii A, Aoki T, Ogawa M, Utsunomiya J, Baba S, Sasazuki T, Nakamura Y. Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res 1992; 52:4055–4057

    CAS  PubMed  Google Scholar 

  14. Paul P, Letteboer T, Gelbert L, Groden J, White R, Coppes MJ. Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis. Hum Mol Genet 1993; 2:925–931

    Article  CAS  PubMed  Google Scholar 

  15. Knudsen AL, Bisgaard ML, Bulow S. Attenuated familial adenomatous polyposis (AFAP). A review of the literature. Fam Cancer 2003; 2:43–55

    Article  PubMed  Google Scholar 

  16. Eccles DM, van der Luijt R, Breukel C, Bullman H, Bunyan D, Fisher A, Barber J, du Boulay C, Primrose J, Burn J, Fodde R. Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. Am J Hum Genet 1996; 59:1193–1201

    CAS  PubMed  Google Scholar 

  17. Smith KJ, Johnson KA, Bryan TM, Hill DE, Markowitz S, Willson JK, Paraskeva C, Petersen GM, Hamilton SR, Vogelstein B, et al. The APC gene product in normal and tumor cells. Proc Natl Acad Sci U S A 1993; 90:2846–2850

    Article  CAS  PubMed  Google Scholar 

  18. Nathke IS, Adams CL, Polakis P, Sellin JH, Nelson WJ. The adenomatous polyposis coli tumor suppressor protein localizes to plasma membrane sites involved in active cell migration. J Cell Biol 1996; 134:165–179

    Article  CAS  PubMed  Google Scholar 

  19. Sancho E, Batlle E, Clevers H. Signaling pathways in intestinal development and cancer. Annu Rev Cell Dev Biol 2004; 20:695–723

    Article  CAS  PubMed  Google Scholar 

  20. He TC, Sparks AB, Rago C, Hermeking H, Zawel L, da Costa LT, Morin PJ, Vogelstein B, Kinzler KW. Identification of c-MYC as a target of the APC pathway. Science 1998; 281:1509–1512

    Article  CAS  PubMed  Google Scholar 

  21. Polakis P, Hart M, Rubinfeld B. Defects in the regulation of beta-catenin in colorectal cancer. Adv Exp Med Biol 1999; 470:23–32

    CAS  PubMed  Google Scholar 

  22. Fodde R, Kuipers J, Rosenberg C, Smits R, Kielman M, Gaspar C, van Es JH, Breukel C, Wiegant J, Giles RH, Clevers H. Mutations in the APC tumour suppressor gene cause chromosomal instability. Nat Cell Biol 2001; 3:433–438

    Article  CAS  PubMed  Google Scholar 

  23. Kaplan KB, Burds AA, Swedlow JR, Bekir SS, Sorger PK, Nathke IS. A role for the Adenomatous Polyposis Coli protein in chromosome segregation. Nat Cell Biol 2001; 3:429–432

    Article  CAS  PubMed  Google Scholar 

  24. Smith KJ, Levy DB, Maupin P, Pollard TD, Vogelstein B, Kinzler KW. Wild-type but not mutant APC associates with the microtubule cytoskeleton. Cancer Res 1994; 54:3672–3675

    CAS  PubMed  Google Scholar 

  25. Dunlop MG. Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polyposis, juvenile polyposis, and Peutz-Jeghers syndrome. Gut 2002; 51:V21–V27

    Article  PubMed  Google Scholar 

  26. 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; 79:1204–1206

    Article  CAS  PubMed  Google Scholar 

  27. 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

    Article  CAS  PubMed  Google Scholar 

  28. Bulow C, Vasen H, Jarvinen H, Bjork J, Bisgaard ML, Bulow S. Ileorectal anastomosis is appropriate for a subset of patients with familial adenomatous polyposis. Gastroenterology 2000; 119:1454–1460

    Article  CAS  PubMed  Google Scholar 

  29. Vasen HF, van Duijvendijk P, Buskens E, Bulow C, Bjork J, Jarvinen HJ, Bulow S. Decision analysis in the surgical treatment of patients with familial adenomatous polyposis: a Dutch–Scandinavian collaborative study including 659 patients. Gut 2001; 49:231–235

    Article  CAS  PubMed  Google Scholar 

  30. Wu JS, Paul P, McGannon EA, Church JM. APC genotype, polyp number, and surgical options in familial adenomatous polyposis. Ann Surg 1998; 227:57–62

    Article  CAS  PubMed  Google Scholar 

  31. Olsen KO, Juul S, Bulow S, Jarvinen HJ, Bakka A, Bjork J, Oresland T, Laurberg S. Female fecundity before and after operation for familial adenomatous polyposis. Br J Surg 2003; 90:227–231

    Article  CAS  PubMed  Google Scholar 

  32. van Duijvendijk P, Slors JF, Taat CW, Oosterveld P, Vasen HF. Functional outcome after colectomy and ileorectal anastomosis compared with proctocolectomy and ileal pouch–anal anastomosis in familial adenomatous polyposis. Ann Surg 1999; 230:648–654

    Article  PubMed  Google Scholar 

  33. van Duijvendijk P, Slors JF, Taat CW, Oosterveld P, Sprangers MA, Obertop H, Vasen HF. Quality of life after total colectomy with ileorectal anastomosis or proctocolectomy and ileal pouch–anal anastomosis for familial adenomatous polyposis. Br J Surg 2000; 87:590–596

    Article  PubMed  Google Scholar 

  34. Spigelman AD, Williams CB, Talbot IC, Domizio P, Phillips RKS. Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet 1989; 2: 783–785

    Article  CAS  PubMed  Google Scholar 

  35. Giardiello FM, Hamilton SR, Krush SJ, Piantadosi S, Hylind LM, Celano P, Booker SV, Robinson CR, Offerhaus GJA. Treatment of colonic and rectal adenomas with Sulindac in familial adenomatous polyposis. N Engl J Med 1993; 328:1313–1316

    Article  CAS  PubMed  Google Scholar 

  36. Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM, Krush AJ, Berk T, Cohen Z, Tetu B, et al. The molecular basis of Turcot’s syndrome. N Engl J Med 1995; 332:839–847

    Article  CAS  PubMed  Google Scholar 

  37. Croitoru ME, Cleary SP, Di Nicola N, Manno M, Selander T, Aronson M, Redston M, Cotterchio M, Knight J, Gryfe R, Gallinger S. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst 2004; 96:1631–1634

    CAS  PubMed  Google Scholar 

  38. Farrington SM, Tenesa A, Barnetson R, Wiltshire A, Prendergast J, Porteous M, Campbell H, Dunlop MG. Germline susceptibility to colorectal cancer due to base-excision repair gene defects. Am J Hum Genet 2005; 77:112–119

    Article  CAS  PubMed  Google Scholar 

  39. Gu Y, Parker A, Wilson TM, Bai H, Chang DY, Lu AL. Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6. J Biol Chem 2002; 277:11135–11142

    Article  CAS  PubMed  Google Scholar 

  40. Chmiel NH, Livingston AL, David SS. Insight into the functional consequences of inherited variants of the hMYH adenine glycosylase associated with colorectal cancer: complementation assays with hMYH variants and pre-steady-state kinetics of the corresponding mutated E. coli enzymes. J Mol Biol 2003; 327:431–443

    Article  CAS  PubMed  Google Scholar 

  41. Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips 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; 348:791–799

    Article  PubMed  Google Scholar 

  42. 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; 104:1535–1549

    CAS  PubMed  Google Scholar 

  43. Lynch HT, Smyrk T, Lynch JF. Molecular genetics and clinical-pathology features of hereditary nonpolyposis colorectal carcinoma (Lynch syndrome): historical journey from pedigree anecdote to molecular genetic confirmation. Oncology 1998; 55:103–108

    Article  CAS  PubMed  Google Scholar 

  44. Lynch HT, de la Chapelle A. Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 1999; 36:801–818

    CAS  PubMed  Google Scholar 

  45. Terdiman JP, Conrad PG, Sleisenger MH. Genetic testing in hereditary colorectal cancer: indications and procedures. Am J Gastroenterol 1999; 94:2344–2356

    Article  CAS  PubMed  Google Scholar 

  46. Vasen HF, Wijnen JT, Menko FH, Kleibeuker JH, Taal BG, Griffioen G, Nagengast FM, Meijers-Heijboer EH, Bertario L, Varesco L, Bisgaard ML, Mohr J, Fodde R, Khan PM. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 1996; 110:1020–1027

    Article  CAS  PubMed  Google Scholar 

  47. 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; 116:1453–1456

    Article  CAS  PubMed  Google Scholar 

  48. Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Ruschoff J, Fishel R, Lindor NM, Burgart LJ, Hamelin R, Hamilton SR, Hiatt RA, Jass J, Lindblom A, Lynch HT, Peltomaki P, Ramsey SD, Rodriguez-Bigas MA, Vasen HF, Hawk ET, Barrett JC, Freedman AN, Srivastava S. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004; 96:261–268

    Article  CAS  PubMed  Google Scholar 

  49. 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; 63:749–759

    Article  CAS  PubMed  Google Scholar 

  50. Mecklin JP, Sipponen P, Jarvinen HJ. Histopathology of colorectal carcinomas and adenomas in cancer family syndrome. Dis Colon Rectum 1986; 29:849–853

    Article  CAS  PubMed  Google Scholar 

  51. Jass JR. HNPCC and sporadic MSI-H colorectal cancer: a review of the morphological similarities and differences. Fam Cancer 2004; 3:93–100

    Article  CAS  PubMed  Google Scholar 

  52. Kouri M, Laasonen A, Mecklin JP, Jarvinen H, Franssila K, Pyrhonen S. Diploid predominance in hereditary nonpolyposis colorectal carcinoma evaluated by flow cytometry. Cancer 1990; 65:1825–1829

    Article  CAS  PubMed  Google Scholar 

  53. de la Chapelle A. Genetic predisposition to colorectal cancer. Nat Rev Cancer 2004; 4:769–780

    Article  PubMed  CAS  Google Scholar 

  54. Iaccarino I, Marra G, Palombo F, Jiricny J. hMSH2 and hMSH6 play distinct roles in mismatch binding and contribute differently to the ATPase activity of hMutSalpha. EMBO J 1998; 17:2677–2686

    Article  CAS  PubMed  Google Scholar 

  55. Mitchell RJ, Farrington SM, Dunlop MG, Campbell H. Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review. Am J Epidemiol 2002; 156:885–902

    Article  CAS  PubMed  Google Scholar 

  56. Peltomaki P. Deficient DNA mismatch repair: a common etiologic factor for colon cancer. Hum Mol Genet s2001; 10:735–740

    Google Scholar 

  57. Akiyama Y, Sato H, Yamada T, Nagasaki H, Tsuchiya A, Abe R, Yuasa Y. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res 1997; 57:3920–3923

    CAS  PubMed  Google Scholar 

  58. Miyaki M, Konishi M, Tanaka K, Kikuchiyanoshita R, Muraoka M, Yasuno M, Igari T, Koike M, Chiba M, Mori T. Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nature Genetics 1997; 17:271–272

    Article  CAS  PubMed  Google Scholar 

  59. Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter JC, Dunlop MG, Hamilton SR, Petersen GM, Delachapelle A, Vogelstein B, Kinzler KW. Mutations of two pms homologues in hereditary nonpolyposis colon cancer. Nature 1994; 371:75–80

    Article  CAS  PubMed  Google Scholar 

  60. Wu Y, Berends MJ, Sijmons RH, Mensink RG, Verlind E, Kooi KA, van der Sluis T, Kempinga C, van dDer Zee AG, Hollema H, Buys CH, Kleibeuker JH, Hofstra RM. A role for MLH3 in hereditary nonpolyposis colorectal cancer. Nat Genet 2001; 29:137–138

    Article  CAS  PubMed  Google Scholar 

  61. 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; 83:1643–1645

    Article  CAS  PubMed  Google Scholar 

  62. Liu B, Farrington SM, Petersen GM, Hamilton SR, Parsons R, Papadopoulos N, Fujiwara T, Jen J, Kinzler KW, Wyllie AH. Genetic instability occurs in the majority of young patients with colorectal cancer. Nat Med 1995; 1:348–352

    Article  CAS  PubMed  Google Scholar 

  63. Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomaki P, Chadwick RB, Kaariainen H, Eskelinen M, Jarvinen H, Mecklin JP, de la Chapelle A. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 1998; 338:1481–1487

    Article  CAS  PubMed  Google Scholar 

  64. 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

    Article  CAS  PubMed  Google Scholar 

  65. 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; 6:105–110

    Article  CAS  PubMed  Google Scholar 

  66. Quehenberger F, Vasen HF, van Houwelingen HC. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet 2005; 42:491–496

    Article  CAS  PubMed  Google Scholar 

  67. Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science 1993; 260:816–819

    Article  CAS  PubMed  Google Scholar 

  68. Dietmaier W, Wallinger S, Bocker T, Kullmann F, Fishel, Ruschoff J. Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression. Cancer Res 1997; 57:4749–4756

    CAS  PubMed  Google Scholar 

  69. Herman JG, Umar A, Polyak K, Graff JR, Ahuja N, Issa JPJ, Markowitz S, Willson JKV, Hamilton SR, Kinzler KW, Kane MF, Kolodner RD, Vogelstein B, Kunkel TA, Baylin SB. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci U S A 1998; 95:6870–6875

    Article  CAS  PubMed  Google Scholar 

  70. Thibodeau SN, French AJ, Cunningham JM, Tester D, Burgart LJ, Roche PC, McDonnell SK, Schaid DJ, Vockley CW, Michels VV, Farr GH Jr, O’Connell MJ. Microsatellite instability in colorectal cancer: different mutator phenotypes and the principal involvement of hMLH1. Cancer Res 1998; 58:1713–1718

    CAS  PubMed  Google Scholar 

  71. Bubb VJ, Curtis LJ, Cunningham C, Dunlop MG, Carothers AD, Morris RG, White S, Bird CC, Wyllie AH. Microsatellite instability and the role of hMSH2 in sporadic colorectal cancer. Oncogene 1996; 12:2641–2649

    CAS  PubMed  Google Scholar 

  72. Gryfe R, Kim H, Hsieh ETK, Aronson MD, Holowaty EJ, Bull SB, Redston M, Gallinger S. Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer. N Engl J Med 2000; 342:69–77

    Article  CAS  PubMed  Google Scholar 

  73. Sankila R, Aaltonen LA, Jarvinen HJ, Mecklin JP. Better survival rates in patients with MLH1-associated hereditary colorectal cancer. Gastroenterology 1996; 110:682–687

    Article  CAS  PubMed  Google Scholar 

  74. Lin KM, Shashidharan M, Ternent CA, Thorson AG, Blatchford GJ, Christensen MA, Lanspa SJ, Lemon SJ, Watson P, Lynch HT. Colorectal and extracolonic cancer variations in MLH1/MSH2 hereditary nonpolyposis colorectal cancer kindreds and the general population. Dis Colon Rectum 1998; 41:428–433

    Article  CAS  PubMed  Google Scholar 

  75. Bertario L, Russo A, Sala P, Eboli M, Radice P, Presciuttini S, Andreola S, Rodriguez-Bigas MA, Pizzetti P, Spinelli P. Survival of patients with hereditary colorectal cancer: comparison of HNPCC and colorectal cancer in FAP patients with sporadic colorectal cancer. Int J Cancer 1999; 80:183–187

    Article  CAS  PubMed  Google Scholar 

  76. Kee F, Collins BJ, Patterson CC. Prognosis in familial non-polyposis colorectal cancer. Gut 1991; 32:513–516

    Article  CAS  PubMed  Google Scholar 

  77. Slattery ML, Kerber RA. The impact of family history of colon cancer on survival after diagnosis with colon cancer. Int J Epidemiol 1995; 24:888–896

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  79. Jarvinen HJ, Aarnio M, Mustonen H, Aktan-Collan K, Aaltonen LA, Peltomaki 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; 118:829–834

    Article  CAS  PubMed  Google Scholar 

  80. de Vos tot Nederveen Cappel WH, Nagengast FM, Griffioen G, Menko FH, Taal BG, Kleibeuker JH, Vasen HF. Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study on 114 families. Dis Colon Rectum 2002; 45:1588–1594

    Article  PubMed  Google Scholar 

  81. Rodriguez–Bigas MA, Vasen HF, Pekka-Mecklin J, Myrhoj T, Rozen P, Bertario L, Jarvinen HJ, Jass JR, Kunitomo K, Nomizu T, Driscoll DL. Rectal cancer risk in hereditary nonpolyposis colorectal cancer after abdominal colectomy. International Collaborative Group on HNPCC. Ann Surg 1997; 225:202–207

    Article  PubMed  Google Scholar 

  82. de Vos tot Nederveen Cappel WH, Buskens E, van Duijvendijk P, Cats A, Menko FH, Griffioen G, Slors JF, Nagengast FM, Kleibeuker JH, Vasen HF. Decision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defect. Gut 2003; 52:1752–1755

    Article  PubMed  Google Scholar 

  83. Williams G, Arthur J, Bussey H, Morson B. Metaplastic polyps and polyposis of the colorectum. Histopathology 1980;4:155–170

    Article  CAS  PubMed  Google Scholar 

  84. Hyman NH, Anderson P, Blasyk H. Hyperplastic polyposis and the risks of colorectal cancer. Dis Colon Rectum 2004; 47:2101–2104

    Article  PubMed  Google Scholar 

  85. Jeevaratnam P, Cottier D, Browett P, Water NVD, Pokos V, Jass J. Familial giant hyperplastic polyposis predisposing to colorectal cancer: a new hereditary bowel cancer syndrome. J Pathol 1996;179:20–25

    Article  CAS  PubMed  Google Scholar 

  86. Chow E, Lipton L, Lynch E, D’Souza R, Aragona C, Hodgkin L, Brown G, Winship I, Barker M, Buchanan D, Cowie S, Nasioulas S, du Sart D, Young J, Leggett B, Jass J, Macrae F. Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH. Gastroenterology 2006; 131:30–39

    Article  CAS  PubMed  Google Scholar 

  87. Lindor NM, Greene MH. The concise handbook of family cancer syndromes. Mayo Familial Cancer Program. J Natl Cancer Inst 1998; 90:1039–1071

    Article  CAS  PubMed  Google Scholar 

  88. 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; 316:1511–1514

    Article  CAS  PubMed  Google Scholar 

  89. Spigelman AD, Murday V, Phillips RK. Cancer and the Peutz-Jeghers syndrome. Gut 1989; 30:1588–1590

    Article  CAS  PubMed  Google Scholar 

  90. Lim W, Olschwang S, Keller JJ, Westerman AM, Menko FH, Boardman LA, Scott RJ, Trimbath J, Giardiello FM, Gruber SB, Gille JJ, Offerhaus GJ, de Rooij FW, Wilson JH, Spigelman AD, Phillips RK, Houlston RS. Relative frequency and morphology of cancers in STK11 mutation carriers. Gastroenterology 2004; 126:1788–1794

    Article  CAS  PubMed  Google Scholar 

  91. Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, Warren W, Aminoff M, Hoglund P, Jarvinen H, Kristo P, Pelin K, Ridanpaa M, Salovaara R, Toro T, Bodmer W, Olschwang S, Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 1998; 391:184–187

    Article  CAS  PubMed  Google Scholar 

  92. Jarvinen H, Franssila KO. Familial juvenile polyposis coli; increased risk of colorectal cancer. Gut 1984; 25:792–800

    Article  CAS  PubMed  Google Scholar 

  93. Desai DC, Neale KF, Talbot IC, Hodgson SV, Phillips RK. Juvenile polyposis. Br J Surg 1995; 82:14–17

    Article  CAS  PubMed  Google Scholar 

  94. Howe JR, Roth S, Ringold JC, Summers RW, Jarvinen HJ, Sistonen P, Tomlinson IP, Houlston RS, Bevan S, Mitros FA, Stone EM, Aaltonen LA. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 1998; 280:1086–1088

    Article  CAS  PubMed  Google Scholar 

  95. Woodford-Richens K, Williamson J, Bevan S, Young J, Leggett B, Frayling I, Thway Y, Hodgson S, Kim JC, Iwama T, Novelli M, Sheer D, Poulsom R, Wright N, Houlston R, Tomlinson I. Allelic loss at SMAD4 in polyps from juvenile polyposis patients and use of fluorescence in situ hybridization to demonstrate clonal origin of the epithelium. Cancer Res 2000; 60:2477–2482

    CAS  PubMed  Google Scholar 

  96. Heldin CH, Miyazono K, Tendijke P. Tgf-beta signalling from cell membrane to nucleus through SMAD proteins. Nature 1997; 390:465–471

    Article  CAS  PubMed  Google Scholar 

  97. Thiagalingam S, Lengauer C, Leach FS, Schutte M, Hahn SA, Overhauser J, Willson JKV, Markowitz S, Hamilton SR, Kern SE, Kinzler KW, Vogelstein B. Evaluation of candidate tumour suppressor genes on chromosome 18 in colorectal cancers. Nat Genet 1996; 13:343–346

    Article  CAS  PubMed  Google Scholar 

  98. Howe JR, Bair JL, Sayed MG, Anderson ME, Mitros FA, Petersen GM, Velculescu VE, Traverso G, Vogelstein B. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet 2001; 28:184–187

    Article  CAS  PubMed  Google Scholar 

  99. Steck PA, Pershouse MA, Jasser SA, Yung WK, Lin H, Ligon AH, Langford LA, Baumgard ML, Hattier T, Davis T, Frye C, Hu R, Swedlund B, Teng DH, Tavtigian SV. Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat Genet 1997; 15:356–362

    Article  CAS  PubMed  Google Scholar 

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Cunningham, C., Barnetson, R., Dunlop, M. (2010). Polyposis Syndromes and Colorectal Cancer Predisposition. In: Givel, JC., Mortensen, N., Roche, B. (eds) Anorectal and Colonic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69419-9_33

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