Familial adenomatous polyposis syndromes

References

Key articles

Syngal S, Brand RE, Church JM, et al.; American College of Gastroenterology. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015;110:223-262. Abstract

Yang J, Gurudu SR, Koptiuch C, et al. American Society for Gastrointestinal Endoscopy guideline on the role of endoscopy in familial adenomatous polyposis syndromes. Gastrointest Endosc. 2020 May;91(5):963-982.e2.Full text  Abstract

Burt RW, Bishop DT, Lynch HT, et al. Risk and surveillance of individuals with heritable factors for colorectal cancer. WHO Collaborating Centre for the Prevention of Colorectal Cancer. Bull World Health Organ. 1990;68:655-665. Abstract

Ishikawa H, Mutoh M, Sato Y, et al. Chemoprevention with low-dose aspirin, mesalazine, or both in patients with familial adenomatous polyposis without previous colectomy (J-FAPP Study IV): a multicentre, double-blind, randomised, two-by-two factorial design trial. Lancet Gastroenterol Hepatol. 2021 Jun;6(6):474-481.Full text  Abstract

Lynch HT, Smyrk TC. Classification of familial adenomatous polyposis: a diagnostic nightmare. Am J Hum Genet. 1998;62:1288-1289.Full text  Abstract

Spigelman AD, Williams CB, Talbot IC, et al. Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet. 1989;2:783-785. Abstract

Herzig D, Hardiman K, Weiser M, et al. The American Society of Colon and Rectal Surgeons clinical practice guidelines for the management of inherited polyposis syndromes. Dis Colon Rectum. 2017 Sep;60(9):881-894.Full text  Abstract

Reference articles

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

3. Syngal S, Brand RE, Church JM, et al.; American College of Gastroenterology. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015;110:223-262. Abstract

4. Burt RW, Leppert MF, Slattery ML, et al. Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology. 2004;127:444-451. Abstract

5. Yang J, Gurudu SR, Koptiuch C, et al. American Society for Gastrointestinal Endoscopy guideline on the role of endoscopy in familial adenomatous polyposis syndromes. Gastrointest Endosc. 2020 May;91(5):963-982.e2.Full text  Abstract

6. Giardiello FM, Brensinger JK, Petersen GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology. 2001;121:198-213. Abstract

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17. Hyer W, Cohen S, Attard T, et al. Management of familial adenomatous polyposis in children and adolescents: Position paper from the ESPGHAN polyposis working group. J Pediatr Gastroenterol Nutr. 2019 Mar;68(3):428-441.Full text  Abstract

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22. Ishikawa H, Mutoh M, Sato Y, et al. Chemoprevention with low-dose aspirin, mesalazine, or both in patients with familial adenomatous polyposis without previous colectomy (J-FAPP Study IV): a multicentre, double-blind, randomised, two-by-two factorial design trial. Lancet Gastroenterol Hepatol. 2021 Jun;6(6):474-481.Full text  Abstract

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24. Cruz-Correa M, Hylind LM, Romans KE, et al. Long-term treatment with sulindac in familial adenomatous polyposis: a prospective cohort study. Gastroenterology. 2002 Mar;122(3):641-5.Full text  Abstract

25. Giardiello FM, Hamilton SR, Krush AJ, et al. Treatment of colonic and rectal adenomas with sulindac in familial adenomatous polyposis. N Engl J Med. 1993 May 6;328(18):1313-6.Full text  Abstract

26. Giardiello FM, Yang VW, Hylind LM, et al. Primary chemoprevention of familial adenomatous polyposis with sulindac. N Engl J Med. 2002 Apr 4;346(14):1054-9.Full text  Abstract

27. Steinbach G, Lynch PM, Phillips RK, et al. The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. N Engl J Med. 2000 Jun 29;342(26):1946-52.Full text  Abstract

28. Phillips RK, Wallace MH, Lynch PM, 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.Full text  Abstract

29. Burke CA, Dekker E, Lynch P, et al. Eflornithine plus Sulindac for prevention of progression in familial adenomatous polyposis. N Engl J Med. 2020 Sep 10;383(11):1028-1039.Full text  Abstract

30. Hyer W, Cohen S, Attard T, et al. Management of familial adenomatous polyposis in children and adolescents: Position paper from the ESPGHAN polyposis working group. J Pediatr Gastroenterol Nutr. 2019 Mar;68(3):428-41.Full text  Abstract

31. Aretz S, Uhlhaas S, Caspari R, et al. Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis. Eur J Hum Genet. 2004 Jan;12(1):52-8.Full text  Abstract

32. Ripa R, Bisgaard ML, Bülow S, et al. De novo mutations in familial adenomatous polyposis (FAP). Eur J Hum Genet. 2002 Oct;10(10):631-7.Full text  Abstract

33. Burt R, Neklason DW. Genetic testing for inherited colon cancer. Gastroenterology. 2005;128:1696-1716. Abstract

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35. Traboulsi EI, Krush AJ, Gardner EJ, et al. Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome. N Engl J Med. 1987;316:661-667. Abstract

36. Stjepanovic N, Moreira L, Carneiro F, et al. Hereditary gastrointestinal cancers: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up†. Ann Oncol. 2019 Oct 1;30(10):1558-1571.Full text  Abstract

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38. Morton DG, Gibson J, Macdonald F, et al. Role of congenital hypertrophy of the retinal pigment epithelium in the predictive diagnosis of familial adenomatous polyposis. Br J Surg. 1992;79:689-693. Abstract

39. Lynch HT, Smyrk TC. Classification of familial adenomatous polyposis: a diagnostic nightmare. Am J Hum Genet. 1998;62:1288-1289.Full text  Abstract

40. Venesio T, Molatore S, Cattaneo F, et al. High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis. Gastroenterology. 2004;126:1681-1685. Abstract

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42. Spigelman AD, Williams CB, Talbot IC, et al. Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet. 1989;2:783-785. Abstract

43. Monahan KJ, Bradshaw N, Dolwani S, et al. Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG). Gut. 2020 Mar;69(3):411-444.Full text  Abstract

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45. Herzig D, Hardiman K, Weiser M, et al. The American Society of Colon and Rectal Surgeons clinical practice guidelines for the management of inherited polyposis syndromes. Dis Colon Rectum. 2017 Sep;60(9):881-894.Full text  Abstract

46. Bjork JA, Akerbrant HI, Iselius LE, et al. Risk factors for rectal cancer morbidity and mortality in patients with familial adenomatous polyposis after colectomy and ileorectal anastomosis. Dis Colon Rectum. 2000;43:1719-1725. Abstract

47. Ozdemir Y, Kalady MF, Aytac E, et al. Anal transitional zone neoplasia in patients with familial adenomatous polyposis after restorative proctocolectomy and IPAA: incidence, management, and oncologic and functional outcomes. Dis Colon Rectum. 2013;56:808-814. Abstract

48. Xie YQ, Yuan X. Meta analysis of surgical treatment of 231 cases of familial adenomatous polyposis in China. Chin J Cancer Prev Treat. 2008;15:537-540.

49. Ahmed AU, Keus F, Heikens JT, et al. Open versus laparoscopic (assisted) ileo pouch anal anastomosis for ulcerative colitis and familial adenomatous polyposis. Cochrane Database Syst Rev. 2009;(1):CD006267.Full text  Abstract

50. Chambers WM, McC Mortensen NJ. Should ileal pouch-anal anastomosis include mucosectomy? Colorectal Dis. 2007;9:384-392. Abstract

51. Rajaratnam SG, Eglinton TW, Hider P, et al. Impact of ileal pouch-anal anastomosis on female fertility: meta-analysis and systematic review. Int J Colorectal Dis. 2011;26:1365-1374. Abstract

52. Tudyka VN, Clark SK. Surgical treatment in familial adenomatous polyposis. Ann Gastroenterol. 2012;25(3):201-206.Full text  Abstract

53. Jenner DC, Levitt S. Rectal cancer following colectomy and ileorectal anastomosis for familial adenomatous polyposis. Aust N Z J Surg. 1998;68:136-138. Abstract

54. De Cosse JJ, Bulow S, Neale K, et al. Rectal cancer risk in patients treated for familial adenomatous polyposis. Br J Surg. 1992;79:1372-1375. Abstract

55. van Leerdam ME, Roos VH, van Hooft JE, et al. Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) Guideline. Endoscopy. 2019 Sep;51(9):877-895.Full text  Abstract

56. Günther K, Braunrieder G, Bittorf BR, et al. Patients with familial adenomatous polyposis experience better bowel function and quality of life after ileorectal anastomosis than after ileoanal pouch. Colorectal Dis. 2003 Jan;5(1):38-44.Full text  Abstract

57. Parc Y, Piquard A, Dozois RR, et al. Long-term outcome of familial adenomatous polyposis patients after restorative proctocolectomy. Ann Surg. 2004;239:378-382.Full text  Abstract

58. DE Marchis ML, Tonelli F, Quaresmini D, et al. Desmoid tumors in familial adenomatous polyposis. Anticancer Res. 2017 Jul;37(7):3357-3366.Full text  Abstract

59. Quintini C, Ward G, Shatnawei A, et al. Mortality of intra-abdominal desmoid tumors in patients with familial adenomatous polyposis: a single center review of 154 patients. Ann Surg. 2012;255:511-516. Abstract

60. Clark SK, Phillips RK. Desmoids in familial adenomatous polyposis. Br J Surg. 1996;83:1494-1504. Abstract

61. Knudsen AL, Bulow S. Desmoid tumour in familial adenomatous polyposis: a review of literature. Fam Cancer. 2001;1:111-119. Abstract

62. Dekker E, Boparai KS, Poley JW, et al. High resolution endoscopy and the additional value of chromoendoscopy in the evaluation of duodenal adenomatosis in patients with familial adenomatous polyposis. Endoscopy. 2009;41:666-669. Abstract

63. Brosens LA, van Hattem WA, Jansen M, et al. Gastrointestinal polyposis syndromes. Curr Mol Med. 2007;7:29-46. Abstract

64. 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. Abstract

65. Parc YR, Olschwang S, Desaint B, et al. Familial adenomatous polyposis: prevalence of adenomas in the ileal pouch after restorative proctocolectomy. Ann Surg. 2001;223:360-364.Full text  Abstract

66. van Duijvendijk P, Vasen HF, Bertario L, 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. Abstract

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68. Gallagher MC, Phillips RK, Bulow S. Surveillance and management of upper gastrointestinal disease in familial adenomatous polyposis. Fam Cancer. 2006;5:263-273. Abstract

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70. Bresalier RS. Primary chemoprevention of familial adenomatous polyposis with sulindac: more questions than answers. Gastroenterology. 2002;123:379-387. Abstract

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73. Lynch PM. Pharmacotherapy for inherited colorectal cancer. Expert Opin Pharmacother. 2010 May;11(7):1101-8. Abstract

74. West NJ, Clark SK, Phillips RK, et al. Eicosapentaenoic acid reduces rectal polyp number and size in familial adenomatous polyposis. Gut. 2010;59:918-925. Abstract

75. Nugent KP, Spigelman AD, Phillips RK. Life expectancy after colectomy and ileorectal anastomosis for familial adenomatous polyposis. Dis Colon Rectum. 1993;36:1059-1062. Abstract

76. Galle TS, Juel K, Bulow S. Causes of death in familial adenomatous polyposis. Scand J Gastroenterol. 1999;34:808-812. Abstract

77. Arvanitis ML, Jagelman DG, Fazio VW, et al. Mortality in patients with familial adenomatous polyposis. Dis Colon Rectum. 1990;33:639-642. Abstract

78. Sturt NJ, Gallagher MC, Bassett P, et al. Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation. Gut. 2004;53:1832-1836.Full text  Abstract

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