Síndromes da polipose adenomatosa familiar

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. Resumo

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.Texto completo  Resumo

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. Resumo

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.Texto completo  Resumo

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

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

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.Texto completo  Resumo

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. Resumo

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

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. Resumo

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. Resumo

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.Texto completo  Resumo

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

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

8. 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. Resumo

9. Nathke I. APC at a glance. J Cell Sci. 2004;117:4873-4875.Texto completo  Resumo

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

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

12. 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.Texto completo  Resumo

13. 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.Texto completo  Resumo

14. 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.Texto completo  Resumo

15. 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.Texto completo  Resumo

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

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.Texto completo  Resumo

18. 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. Resumo

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

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

21. 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.Texto completo  Resumo

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.Texto completo  Resumo

23. 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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

30. 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.Texto completo  Resumo

31. 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.Texto completo  Resumo

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

33. 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;14:376-390.Texto completo  Resumo

34. 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. Resumo

35. 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.Texto completo  Resumo

36. Tiret A, Taiel-Sartral M, Tiret E, et al. Diagnostic value of fundus examination in familial adenomatous polyposis. Br J Ophthalmol. 1997;81:755-758.Texto completo  Resumo

37. 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. Resumo

38. Lynch HT, Smyrk TC. Classification of familial adenomatous polyposis: a diagnostic nightmare. Am J Hum Genet. 1998;62:1288-1289.Texto completo  Resumo

39. 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. Resumo

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

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

42. 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.Texto completo  Resumo

43. Mäkelä O, Kaartinen M. Genetic control of early antibody responses. Immunol Rev. 1988 Oct;105:85-96.Texto completo  Resumo

44. 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.Texto completo  Resumo

45. 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. Resumo

46. 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. Resumo

47. 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.

48. 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.Texto completo  Resumo

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

50. 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. Resumo

51. Tudyka VN, Clark SK. Surgical treatment in familial adenomatous polyposis. Ann Gastroenterol. 2012;25(3):201-206.Texto completo  Resumo

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

53. 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. Resumo

54. 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.Texto completo  Resumo

55. 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.Texto completo  Resumo

56. 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.Texto completo  Resumo

57. DE Marchis ML, Tonelli F, Quaresmini D, et al. Desmoid tumors in familial adenomatous polyposis. Anticancer Res. 2017 Jul;37(7):3357-3366.Texto completo  Resumo

58. 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. Resumo

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

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

61. 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. Resumo

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

63. 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. Resumo

64. 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.Texto completo  Resumo

65. 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. Resumo

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

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

68. 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. Resumo

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

70. Half E, Arber N. Colon cancer: preventive agents and the present status of chemoprevention. Expert Opin Pharmacother. 2009;10:211-219. Resumo

71. Cooper K, Squires H, Carroll C, et al. Chemoprevention of colorectal cancer: systematic review and economic evaluation. Health Technol Assess. 2010;14:1-206.Texto completo  Resumo

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

73. 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. Resumo

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

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

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

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;53:1832-1836.Texto completo  Resumo

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. Resumo

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. Resumo

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

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

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.Texto completo  Resumo

83. Truta B, Allen BA, Conrad PG, et al. Genotype and phenotype of patients with both familial adenomatous polyposis and thyroid carcinoma. Fam Cancer. 2003;2:95-99. Resumo

84. National Comprehensive Cancer Network. NCCN guidelines insights: genetic/familial high-risk assessment: colorectal [internet publication].Texto completo

85. Feng X, Milas M, O'Malley M, et al. Characteristics of benign and malignant thyroid disease in familial adenomatous polyposis patients and recommendations for disease surveillance. Thyroid. 2015 Mar;25(3):325-32.Texto completo  Resumo

86. Kingston JE, Herbert A, Draper GJ, et al. Association between hepatoblastoma and polyposis coli. Arch Dis Child. 1983;58:959-962.Texto completo  Resumo

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

88. 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. Resumo

89. Giardiello FM, Petersen GM, Brensinger JD, et al. Hepatoblastoma and APC gene mutation in familial adenomatous polyposis. Gut. 1996;39:867-869.Texto completo  Resumo

90. 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. Resumo

91. 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. Resumo

92. 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. Resumo

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

94. 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. Resumo

95. Heiskanen I, Kellokumpu I, Jarvinen H. Management of duodenal adenomas in 98 patients with familial adenomatous polyposis. Endoscopy. 1999;31:412-416. Resumo

96. Bussey HJR. Familial polyposis coli: family studies, histopathology, differential diagnosis, and results of treatment. Baltimore: Johns Hopkins University Press; 1975.

97. 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.Texto completo  Resumo