Familial adenomatous polyposis syndromes

References

Key articles

National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal [internet publication].Full text

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 Feb;110(2):223-62. 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):963-82.e2.Full text  Abstract

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):1558-71.Full text  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):881-94.Full text  Abstract

Reference articles

1. Bjork J, Akerbrant H, Iselius L, et al. Epidemiology of familial adenomatous polyposis in Sweden: changes over time and differences in phenotype between males and females. Scand J Gastroenterol. 1999;34:1230-1235. Abstract

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. National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal [internet publication].Full text

4. 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 Feb;110(2):223-62. Abstract

5. 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

6. 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):963-82.e2.Full text  Abstract

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

8. Bisgaard ML, Fenger K, Bulow S, et al. Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat. 1994;3:121-125. Abstract

9. 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

10. Nathke I. APC at a glance. J Cell Sci. 2004 Oct 1;117(Pt 21):4873-5.Full text

11. Goss KH, Groden J. Biology of the adenomatous polyposis coli tumor suppressor. J Clin Oncol. 2000;18:1967-1979. Abstract

12. Kinzler KW, Nilbert MC, Su LK, et al. Identification of FAP locus genes from chromosome 5q21. Science. 1991;253:661-665. Abstract

13. Yamaguchi K, Komura M, Yamaguchi R, et al. Detection of APC mosaicism by next-generation sequencing in an FAP patient. J Hum Genet. 2015 May;60(5):227-31.Full text  Abstract

14. Bellido F, Pineda M, Aiza G, et al. POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance. Genet Med. 2016 Apr;18(4):325-32.Full text  Abstract

15. Esteban-Jurado C, Garre P, Vila M, et al. New genes emerging for colorectal cancer predisposition. World J Gastroenterol. 2014 Feb 28;20(8):1961-71.Full text  Abstract

16. Rohlin A, Eiengård F, Lundstam U, et al. GREM1 and POLE variants in hereditary colorectal cancer syndromes. Genes Chromosomes Cancer. 2016 Jan;55(1):95-106.Full text  Abstract

17. Reya T, Clevers H. Wnt signalling in stem cells and cancer. Nature. 2005;434:843-850. Abstract

18. 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

19. Kastrinos F, Stoffel EM, Balmana J, et al. Attitudes toward prenatal genetic testing in patients with familial adenomatous polyposis. Am J Gastroenterol. 2007;102:1284-1290. Abstract

20. Davis T, Song B, Cram DS. Preimplantation genetic diagnosis of familial adenomatous polyposis. Reprod Biomed Online. 2006;13:707-711. Abstract

21. Rechitsky S, Verlinsky O, Chistokhina A, et al. Preimplantation genetic diagnosis for cancer predisposition. Reprod Biomed Online. 2002;5:148-155. Abstract

22. Burn J, Bishop DT, Chapman PD, et al. A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis. Cancer Prev Res. 2011;4:655-665.Full text  Abstract

23. 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):474-81. Abstract

24. Labayle D, Fischer D, Vielh P, et al. Sulindac causes regression of rectal polyps in familial adenomatous polyposis. Gastroenterology. 1991 Sep;101(3):635-9.Full text  Abstract

25. 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

26. 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

27. 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

28. Samadder NJ, Neklason DW, Boucher KM, et al. Effect of sulindac and erlotinib vs placebo on duodenal neoplasia in familial adenomatous polyposis: a randomized clinical trial. JAMA. 2016 Mar 22-29;315(12):1266-75.Full text  Abstract

29. 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

30. 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 Jun;50(6):857-60.Full text  Abstract

31. 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

32. 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

33. 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

34. 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

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

36. Gardner EJ. Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyposis, osteomas, fibromas and epidermal cysts. Am J Hum Genet. 1962 Dec;14(4):376-90.Full text  Abstract

37. 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

38. 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):1558-71.Full text  Abstract

39. Tiret A, Taiel-Sartral M, Tiret E, et al. Diagnostic value of fundus examination in familial adenomatous polyposis. Br J Ophthalmol. 1997 Sep;81(9):755-8.Full text  Abstract

40. 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

41. Lynch HT, Smyrk TC. Classification of familial adenomatous polyposis: a diagnostic nightmare. Am J Hum Genet. 1998 Jun;62(6):1288-9.Full text  Abstract

42. ASGE STANDARDS OF PRACTICE COMMITTEE, Coelho-Prabhu N, Forbes N, et al. Adverse events associated with EGD and EGD-related techniques. Gastrointest Endosc. 2022 Sep;96(3):389-401.e1.Full text  Abstract

43. 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

44. Lipton L, Tomlinson I. The multiple colorectal adenoma phenotype and MYH, a base excision repair gene. Clin Gastroenterol Hepatol. 2004;2:633-8. Abstract

45. Dekker E, Bleijenberg A, Balaguer F, et al. Update on the World Health Organization criteria for diagnosis of serrated polyposis syndrome. Gastroenterology. 2020 May;158(6):1520-23.Full text  Abstract

46. Spigelman AD, Williams CB, Talbot IC, et al. Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet. 1989 Sep 30;2(8666):783-5. Abstract

47. Storm AC, Fishman DS, Buxbaum JL, et al. American Society for Gastrointestinal Endoscopy guideline on informed consent for GI endoscopic procedures. Gastrointest Endosc. 2022 Feb;95(2):207-15.Full text  Abstract

48. 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):881-94.Full text  Abstract

49. 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):411-44.Full text  Abstract

50. Pennazio M, Spada C, Eliakim R, et al. Small-bowel capsule endoscopy and device-assisted enteroscopy for diagnosis and treatment of small-bowel disorders: European Society of Gastrointestinal Endoscopy (ESGE) clinical guideline. Endoscopy. 2015 Apr;47(4):352-76.Full text  Abstract

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

52. 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

53. 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

54. 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.

55. 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

56. 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

57. Tudyka VN, Clark SK. Surgical treatment in familial adenomatous polyposis. Ann Gastroenterol. 2012;25(3):201-6.Full text  Abstract

58. 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

59. 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

60. 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

61. 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. Abstract

62. Parc Y, Piquard A, Dozois RR, et al. Long-term outcome of familial adenomatous polyposis patients after restorative proctocolectomy. Ann Surg. 2004 Mar;239(3):378-82.Full text  Abstract

63. 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

64. 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

65. Duffaud F, Le Cesne A. Imatinib in the treatment of solid tumors. Targ Oncol. 2009;4:45-56. Abstract

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

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

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

69. 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

70. 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

71. Parc YR, Olschwang S, Desaint B, et al. Familial adenomatous polyposis: prevalence of adenomas in the ileal pouch after restorative proctocolectomy. Ann Surg. 2001 Mar;233(3):360-4.Full text  Abstract

72. 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

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

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

75. Bertoni G, Sassatelli R, Nigrisoli E, 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. Abstract

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

77. 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 Dec;53(12):1832-6.Full text  Abstract

78. Carl W, Sullivan MA. Dental abnormalities and bone lesions associated with familial adenomatous polyposis: report of cases. J Am Dent Assoc. 1989;119:137-139. Abstract

79. Offerhaus GJ, Levin LS, Giardiello FM, et al. Occult radiopaque jaw lesions in familial adenomatous polyposis coli and hereditary nonpolyposis colorectal cancer. Gastroenterology. 1987;93:490-497. Abstract

80. Leppard B, Bussey HJ. Epidermoid cysts, polyposis coli and Gardner's syndrome. Br J Surg. 1975;62:387-393. Abstract

81. Hamilton SR, Liu B, Parsons RE, et al. The molecular basis of Turcot's syndrome. N Engl J Med. 1995;332:839-847.Full text  Abstract

82. Groen EJ, Roos A, Muntinghe FL, et al. Extra-intestinal manifestations of familial adenomatous polyposis. Ann Surg Oncol. 2008 Sep;15(9):2439-50.Full text  Abstract

83. Herraiz M, Barbesino G, Faquin W, et al. Prevalence of thyroid cancer in familial adenomatous polyposis syndrome and the role of screening ultrasound examinations. Clin Gastroenterol Hepatol. 2007 Mar;5(3):367-73.Full text  Abstract

84. Kingston JE, Herbert A, Draper GJ, et al. Association between hepatoblastoma and polyposis coli. Arch Dis Child. 1983 Dec;58(12):959-62.Full text  Abstract

85. Garber JE, Li FP, Kingston JE, et al. Hepatoblastoma and familial adenomatous polyposis. J Natl Cancer Inst. 1988;80:1626-1628. Abstract

86. Bernstein IT, Bulow S, Mauritzen K. Hepatoblastoma in two cousins in a family with adenomatous polyposis: report of two cases. Dis Colon Rectum. 1992;35:373-374. Abstract

87. Giardiello FM, Petersen GM, Brensinger JD, et al. Hepatoblastoma and APC gene mutation in familial adenomatous polyposis. Gut. 1996 Dec;39(6):867-9.Full text  Abstract

88. Watanabe H, Enjoji M, Yao T, et al. Gastric lesions in familial adenomatosis coli: their incidence and histologic analysis. Hum Pathol. 1978;9:269-283. Abstract

89. Odze RD, Marcial MA, Antonioli D. Gastric fundic gland polyps: a morphological study including mucin histochemistry, stereometry, and MIB-1 immunohistochemistry. Hum Pathol. 1996;27:896-903. Abstract

90. Wu TT, Kornacki S, Rashid, et al. Dysplasia and dysregulation of proliferation in foveolar and surface epithelia of fundic gland polyps from patients with familial adenomatous polyposis. Am J Surg Pathol. 1998;22:293-298. Abstract

91. Giardiello FM, Hamilton SR, Krush AJ, et al. Nasopharyngeal angiofibroma in patients with familial adenomatous polyposis. Gastroenterology. 1993;105:1550-1552. Abstract

92. M'Koma AE, Wise PE, Schwartz DA, et al. Prevalence and outcome of anemia after restorative proctocolectomy: a clinical literature review. Dis Colon Rectum. 2009;52:726-739. Abstract

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