Recognition and management of hereditary colorectal cancer syndromes

Revista Espanola de Enfermedades Digestivas

Volumn 101, Issue 2, 2009, Pages 125-132

  Herráiz, Maite ^a   Munoz Navas M ^a  

^a UNIVERSITY CLINIC OF NAVARRA   (Spain)

Author keywords

Familial adenomatous polyposis; Hereditary colon cancer; Lynch syndrome; MYH associated polyposis

Indexed keywords

ANTINEOPLASTIC AGENT; CELECOXIB; NONSTEROID ANTIINFLAMMATORY AGENT; ROFECOXIB; SULINDAC; CYCLOOXYGENASE 2 INHIBITOR;

ADENOMATOUS POLYP; CANCER INCIDENCE; CANCER MORTALITY; CANCER SURGERY; CARDIOVASCULAR DISEASE; CHEMOPROPHYLAXIS; COLON POLYP; COLON RESECTION; COLONOSCOPY; COLORECTAL ADENOMA; COLORECTAL CANCER; DUODENAL POLYPOSIS; DUODENUM DISEASE; FAMILIAL CANCER; FAMILY COUNSELING; GENE; GENETIC DISORDER; GENETICS; HUMAN; ILEORECTAL ANASTOMOSIS; ILEOSTOMY; MYH GENE; POLYPOSIS; PROCTOCOLECTOMY; PROPHYLAXIS; RECTUM POLYP; REVIEW; RISK; SPAIN; THYROID CANCER; ADOLESCENT; ADULT; CHILD; COLON POLYPOSIS; COLORECTAL TUMOR; DOMINANT GENE; ENDOMETRIUM TUMOR; FAMILY HEALTH; FEMALE; GENETIC SCREENING; MALE; MIDDLE AGED; RECESSIVE GENE; TUMOR GENE;

ADENOMATOUS POLYPOSIS COLI; ADOLESCENT; ADULT; ANTI-INFLAMMATORY AGENTS, NON-STEROIDAL; CHILD; COLECTOMY; COLONOSCOPY; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; CYCLOOXYGENASE 2 INHIBITORS; ENDOMETRIAL NEOPLASMS; FAMILY HEALTH; FEMALE; GENES, DOMINANT; GENES, NEOPLASM; GENES, RECESSIVE; GENETIC SCREENING; HUMANS; MALE; MIDDLE AGED; NEOPLASTIC SYNDROMES, HEREDITARY; YOUNG ADULT;

EID: 65549112199     PISSN: 11300108     EISSN: None     Source Type: Journal    
DOI: 10.4321/S1130-01082009000200006     Document Type: Review

References (71)

1. Colomer R. Cifras del cáncer en España. SEOM. El Mundo 2-2-2009.
2. Betes-Ibañez M, Carreto Ribón C, Muñoz-Navas M. Evidencia científica en cribado del cáncer colorrectal. Madrid: IM&C S.A.; 2006.
3. Lynch HT, Lynch JF, Lynch PM, Attard T. Hereditary colorectal syndromes: molecular genetics, genetic counselling, diagnosis and management. Fam Cancer 2008; 7: 27-39.
4. Al-Sukhni W, Aronson M, Gallinger S. Hereditary colorectal cancer syndromes: familial adenomatous polyposis and Lynch syndrome. Surg Clin North Am 2008; 88: 819-844 (Pubitemid 352043833)
5. Cetta F, Dhamo A. Inherited multitumoral syndromes including colorectal carcinoma. Surg Oncol 2007; 16: S17-S23. (Pubitemid 50008304)
6. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991; 66: 589-600. (Pubitemid 121001394)
7. Aretz S, Uhlhaas S, Caspari R, Mangold E, Pagenstecher C, Propping P, et al. Frequency and parental origin of the novo APC mutations in familial adenomatous polyposis. Eur J Hum Genet 2004; 12:52-58 (Pubitemid 38180970)
8. Aretz S, Stienen D, Friedrichs N, Stemmler S, Uhlhaas S, Rahner N, et al. Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). Hum Mutat 2007; 28 :985-992 (Pubitemid 47519391)
9. Hes FJ, Nielsen M, Bik EC, Konvalinka D, Wijnen JT, Bakker E, et al. Somatic APC mosaicism: an underestimated cause of polyposis coli. Gut 2008; 57: 71-76
10. Bulow S, Bjork J, Christensen IJ, Fausa O, Jarvinen H, Moesgaard F, et al. Duodenal adenomatosis in familial adenomatous polyposis. Gut 2004; 53: 381-386 (Pubitemid 38241334)
11. Bjork J, Akerbrant H, Iselius L, Bergman A, Engwall Y, Wahlstrom J, et al. Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: cumulative risks and APC gene mutations. Gastroenterology 2001; 121: 1127-1135 (Pubitemid 33022093)
12. Herraiz M, Barbesino G, Faquin W, Chan-Smutko G, Patel D, Shannon KM, et al. Prevalence of thyroid cancer in familial adenomatous polyposis syndrome and the role of screening ultrasound examinations. Clin Gastroenterol Hepatol 2007; 5: 367-373 (Pubitemid 46401518)
13. Bertario L, Russo A, Sala P, Eboli M, Giarola M, D'Amico F, et al. Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis. Int J Cancer 2001; 95: 102-107 (Pubitemid 32187081)
14. Arvanitis ML, Jagelman DG, Fazio VW, Lavery IC, McGannon E. Mortality in patients with familial adenomatous polyposis. Dis Colon Rectum 1990; 33: 639-642 (Pubitemid 20251985)
15. Sturt NJ, Gallagher MC, Bassett P, Philp CR, Neale KF, Tomlinson IP, et al. Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation. Gut 2004; 53: 1832-1836 (Pubitemid 39556906)
16. Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003; 348: 791-799 (Pubitemid 36245755)
17. Sampson JR, Dolwani S, Jones S, Eccles D, Ellis A, Evans DG, et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 2003; 362: 39-41. (Pubitemid 36835819)
18. Jenkins MA, Croitoru ME, Monga N, Cleary SP, Cotterchio M, Hopper JL, et al. Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev 2006; 15: 312-314 (Pubitemid 43342180)
19. Bouguen G, Manfredi S, Blayau M, Dugast C, Buecher B, Bonneau D, et al. Colorectal adenomatous polyposis associated with MYHmutations: genotype and phenotype characteristics. Dis Colon Rectum 2007. (Pubitemid 47583366)
20. Nielsen M, Franken PF, Reinards TH, Weiss MM, Wagner A, van der Klift H, et al. Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J Med Genet 2005; 42: e54.
21. Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med 2003; 348: 919-932
22. Hampel H, Stephens JA, Pukkala E, Sankila R, Aaltonen LA, Mecklin JP, et al. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology 2005; 129: 415-421 (Pubitemid 41096629)
23. Vasen HF, Wijnen JT, Menko FH, Kleibeuker JH, Taal BG, Griffioen G, et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 1996; 110: 1020-1027 (Pubitemid 26113739)
24. Aaltonen LA, Peltomaki P, Leach FS, Sistonen P, Pylkkanen L, Mecklin JP, et al. Clues to the pathogenesis of familial colorectal cancer. Science 1993; 260: 812-816 (Pubitemid 23167611)
25. Lynch HT, Boland CR, Rodriguez-Bigas MA, Amos C, Lynch JF, Lynch PM. Who should be sent for genetic testing in hereditary colorectal cancer syndromes? J Clin Oncol 2007; 25: 3534-3542
26. Lynch HT, de la Chapelle A. Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 1999; 36: 801-818 (Pubitemid 29520569)
27. Vasen HFA, Möslein G, Alonso A, Bernstein I, Beratio L, Blanco I, et al. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet 2007; 44: 353-362 (Pubitemid 46953715)
28. Desai TK, Barkel D. Syndromic colon cancer: Lynch syndrome and familial adenomatous polyposis. Gastro Clin North Am 2008; 88: 819-844 (Pubitemid 351289025)
29. Lindor NM, Rabe K, Petersen GM, Haile R, Casey G, Baron J, et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA 2005; 293: 1979-1985 (Pubitemid 40570891)
30. Winawer S, Fletcher R, Rex D, Bond J, Burt R, Ferrucci J, et al. Colorectal cancer screening and surveillance: clinical guidelines and rationale-Update based on new evidence. Gastroenterology 2003; 124: 544-560 (Pubitemid 36169269)
31. Vasen HFA, Möslein G, Alonso A, Aretz S, Bernstein I, Bertario L, et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 2008; 57: 704-713 (Pubitemid 351579987)
32. Lindor NM, Petersen GM, Hadley DW, Kinney AY, Miesfeldt S, Lu KH, et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA 2006; 296: 1507-1517 (Pubitemid 44465515)
33. Guillem JG, Wood WC, Moley JF, Berchuck A, Karlan BY, Mutch DG, et al. ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes. J Clin Oncol 2006;2 4: 4642-4660 (Pubitemid 46630963)
34. Dove-Edwin I, Sasieni P, Adams J, Thomas HJ. Prevention of colorectal cancer by colonoscopic surveillance in individuals with a family history of colorectal cancer: 16 year, prospective, follow-up study. BMJ 2005; 331: 1047. (Pubitemid 41597850)
35. Jarvinen HJ, Aarnio M, Mustonen H, Aktan-Collan K, Aaltonen LA, Peltomaki P, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 2000; 118: 829-834 (Pubitemid 30243745)
36. Nugent KP, Spigelman AD, Phillips RK. Life expectancy after colectomy and ileorectal anastomosis for familial adenomatous polyposis. Dis Colon Rectum 1993; 36:1059-1062 (Pubitemid 23335255)
37. Valanzano R, Ficari F, Curia MC, Aceto G, Veschi S, Cama A, et al. Balance between endoscopic and genetic information in the choice of ileorectal anastomosis for familial adenomatous polyposis. J Surg Oncol 2007; 95: 28-33. (Pubitemid 46122714)
38. Olsen KO, Juul S, Bülow S, Järvinen HJ, Bakka A, Björk J, et al. Female fecundity before and after operation for familial adenomatous polyposis. Br J Surg 2003; 90: 227-231 (Pubitemid 36240275)
39. Ambroze WL, Jr., Dozois RR, Pemberton JH, Beart RW, Jr., Ilstrup DM. Familial adenomatous polyposis: results following ileal pouchanal anastomosis and ileorectostomy. Dis Colon Rectum 1992; 35: 12-15
40. 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
41. van Duijvendijk P, Vasen HF, Bertario L, Bulow S, Kuijpers JH, Schouten WR, et al. Cumulative risk of developing polyps or malignancy at the ileal pouch-anal anastomosis in patients with familial adenomatous polyposis. J Gastrointest Surg 1999; 3: 325-330
42. Remzi FH, Church JM, Bast J, Lavery IC, Strong SA, Hull TL, et al. Mucosectomy vs. stapled ileal pouch-anal anastomosis in patients with familial adenomatous polyposis: functional outcome and neoplasia control. Dis Colon Rectum 2001; 44: 1590-1596 (Pubitemid 33126976)
43. Speake D, Evans DG, Lalloo F, Scott NA, Hill J. Desmoid tumours in patients with familial adenomatous polyposis and desmoid region adenomatous polyposis coli mutations. Br J Surg 2007; 94: 1009-1013 (Pubitemid 47236547)
44. Fitzgibbons RJ, Jr., Lynch HT, Stanislav GV, Watson PA, Lanspa SJ, Marcus JN, et al. Recognition and treatment of patients with hereditary nonpolyposis colon cancer (Lynch syndromes I and II). Ann Surg 1987; 206: 289-295
45. de Vos tot Nederveen Cappel WH, Buskens E, van Duijvendijk P, Cats A, Menko FH, Griffioen G, et al. Decision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defect. Gut 2003; 52: 1752-1755
46. Rodriguez-Bigas MA, Vasen HF, Pekka-Mecklin J, Myrhoj T, Rozen P, Bertario L, et al. Rectal cancer risk in hereditary nonpolyposis colorectal cancer after abdominal colectomy. International Collaborative Group on HNPCC. Ann Surg 1997; 225: 202-207 (Pubitemid 27083780)
47. Giardiello FM, Hamilton SR, Krush AJ, Piantadosi S, Hylind LM, Celano P, et al. Treatment of colonic and rectal adenomas with sulindac in familial adenomatous polyposis. N Engl J Med 1993; 328: 1313-1316 (Pubitemid 23131373)
48. Lynch PM. Chemoprevention with special reference to inherited colorectal cancer. Fam Cancer 2007.
49. Tonelli F, Valanzano R, Messerini L, Ficari F. Long-term treatment with sulindac in familial adenomatous polyposis: is there an actual efficacy in prevention of rectal cancer? J Surg Oncol 2000; 74: 15-20.
50. Cruz-Correa M, Hylind LM, Romans KE, Booker SV, Giardiello FM. Long-term treatment with sulindac in familial adenomatous polyposis: a prospective cohort study. Gastroenterology 2002; 122: 641-645 (Pubitemid 34173815)
51. Lynch HT, Thorson AG, Smyrk T. Rectal cancer after prolonged sulindac chemoprevention. A case report. Cancer 1995; 75: 936-938
52. Richard CS, Berk T, Bapat BV, Haber G, Cohen Z, Gallinger S. Sulindac for periampullary polyps in FAP patients. Int J Colorectal Dis 1997; 12: 14-18 (Pubitemid 27138352)
53. Giardiello FM, Yang VW, Hylind LM, Krush AJ, Petersen GM, Trimbath JD, et al. Primary chemoprevention of familial adenomatous polyposis with sulindac. N Engl J Med 2002; 346: 1054-1059 (Pubitemid 34984619)
54. Steinbach G, Lynch PM, Phillips RK, Wallace MH, Hawk E, Gordon GB, et al. The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. N Engl J Med 2000; 342: 1946-1952 (Pubitemid 30419089)
55. Phillips RK, Wallace MH, Lynch PM, Hawk E, Gordon GB, Saunders BP, et al. A randomised, double blind, placebo controlled study of celecoxib, a selective cyclooxygenase 2 inhibitor, on duodenal polyposis in familial adenomatous polyposis. Gut 2002; 50: 857-860 (Pubitemid 34539050)
56. Hallak A, Alon-Baron L, Shamir R, Moshkowitz M, Bulvik B, Brazowski E, et al. Rofecoxib reduces polyp recurrence in familial polyposis. Dig Dis Sci 2003; 48: 1998-2002. (Pubitemid 37410090)
57. Sinicrope FA, Lemoine M, Xi L, Lynch PM, Cleary KR, Shen Y, Frazier ML. Reduced expression of cyclooxygenase 2 proteins in hereditary nonpolyposis colorectal cancers relative to sporadic cancers. Gastroenterology 1999; 117: 350-358 (Pubitemid 29352943)
58. Rijcken FE, Hollema H, van der Zee AG, van der Sluis T, Boersmavan EkW, Kleibeuker JH. Sulindac treatment in hereditary non-polyposis colorectal cancer. Eur J Cancer 2007; 43: 1251-1256 (Pubitemid 46720249)
59. Saurin JC, Gutknecht C, Napoleon B, Chavaillon A, Ecochard R, Scoazec JY, et al. Surveillance of duodenal adenomas in familial adenomatous polyposis reveals high cumulative risk of advanced disease. J Clin Oncol 2004; 22: 493-498 (Pubitemid 41079779)
60. Jagelman DG, DeCosse JJ, Bussey HJ. Upper gastrointestinal cancer in familial adenomatous polyposis. Lancet 1988; 1: 1149-1151 (Pubitemid 18120691)
61. Beckwith PS, van Heerden JA, Dozois RR. Prognosis of symptomatic duodenal adenomas in familial adenomatous polyposis. Arch Surg 1991; 126: 825-7; discussion 827-828
62. Penna C, Bataille N, Balladur P, Tiret E, Parc R. Surgical treatment of severe duodenal polyposis in familial adenomatous polyposis. Br J Surg 1998; 85: 665-668 (Pubitemid 28247544)
63. 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
64. Bertoni G, Sassatelli R, Nigrisoli E, Pennazio M, Tansini P, Arrigoni A, et al. High prevalence of adenomas and microadenomas of the duodenal papilla and periampullary region in patients with familial adenomatous polyposis. Eur J Gastroenterol Hepatol 1996; 8: 1201-1206 (Pubitemid 26413552)
65. Neoptolemos JP, Russell RC, Bramhall S, Theis B. Low mortality following resection for pancreatic and periampullary tumours in 1026 patients: UK survey of specialist pancreatic units. UK Pancreatic Cancer Group. Br J Surg 1997; 84: 1370-1376 (Pubitemid 27443437)
66. Gallagher MC, Shankar A, Groves CJ, Russell RC, Phillips RK. Pylorus-preserving pancreaticoduodenectomy for advanced duodenal disease in familial adenomatous polyposis. Br J Surg 2004; 91: 1157-1164 (Pubitemid 39179459)
67. Kadmon M, Tandara A, Herfarth C. Duodenal adenomatosis in familial adenomatous polyposis coli. A review of the literature and results from the Heidelberg Polyposis Register. Int J Colorectal Dis 2001; 16: 63-75. (Pubitemid 32318339)
68. Norton ID, Geller A, Petersen BT, Sorbi D, Gostout CJ. Endoscopic surveillance and ablative therapy for periampullary adenomas. Am J Gastroenterol 2001; 96: 101-106 (Pubitemid 32104815)
69. Gallagher MC, Phillips RK, Bulow S. Surveillance and management of upper gastrointestinal disease in familial adenomatous polyposis. Fam Cancer 2006; 5: 263-273 (Pubitemid 44453857)
70. Schmeler KM, Lynch HT, Chen LM, Munsell MF, Soliman PT, Clark MB, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 2006; 354: 261-269 (Pubitemid 43113031)
71. Kaz AM, Brentnall TA. Genetic testing for colon cancer. Nat Clin Pract Gastroenterol Hepatol 2006; 3: 670-679