Síndromes da polipose adenomatosa familiar

Referências

Principais artigos

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

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. 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):963-82.e2.Texto completo  Resumo

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.Texto completo  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):881-94.Texto completo  Resumo

Artigos de referência

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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. Resumo

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

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. Resumo

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. Resumo

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.Texto completo  Resumo

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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. Resumo

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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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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. Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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

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.Texto completo  Resumo

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. Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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. Resumo

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

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.Texto completo  Resumo

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. Resumo

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

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.Texto completo  Resumo

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. Resumo

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50. 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

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52. 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

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