家族性腺瘤性息肉病综合征

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.

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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.

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

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Lipton L, Tomlinson I. The multiple colorectal adenoma phenotype and MYH, a base excision repair gene. Clin Gastroenterol Hepatol. 2004;2:633-638.

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

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Vasen HF, Moslein G, Alonso A, et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut. 2008;57:704-713.

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Lynch PM. Pharmacotherapy for inherited colorectal cancer. Expert Opin Pharmacother. 2010;11:1101-1108.

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Cairns SR, Scholefield JH, Steele RJ, et al. Guidelines for colorectal cancer screening and surveillance in moderate and high risk groups (update from 2002). Gut. 2010;59:666-690.

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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.

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22.  Bulow S. Results of national registration of familial adenomatous polyposis. Gut. 2003;52:742-746.

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23.  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.

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24.  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.

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

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26.  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.

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27.  Lipton L, Tomlinson I. The multiple colorectal adenoma phenotype and MYH, a base excision repair gene. Clin Gastroenterol Hepatol. 2004;2:633-638.

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

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29.  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.

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30.  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.

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31.  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.

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32.  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.

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33.  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.

34.  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.

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

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36.  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.

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

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

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39.  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.

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40.  Vasen HF, Moslein G, Alonso A, et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut. 2008;57:704-713.

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

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42.  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.

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

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44.  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.

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45.  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.

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46.  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.

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47.  Iida M, Itoh H, Matsui T, et al. Ileal adenomas in postcolectomy patients with familial adenomatosis coli/Gardner's syndrome: incidence and endoscopic appearance. Dis Colon Rectum. 1989;32:1034-1038.

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48.  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.

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49.  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.

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50.  Church J, Burke C, McGannon E, et al. Risk of rectal cancer in patients after colectomy and ileorectal anastomosis for familial adenomatous polyposis: a function of available surgical options. Dis Colon Rectum. 2003;46:1175-1181.

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51.  von Roon AD, Tekkis PP, Lovegrove RE, et al. Comparison of outcomes of ileal pouch-anal anastomosis for familial adenomatous polyposis with and without previous ileorectal anastomosis. Br J Surg. 2008;95:494-498.

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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.

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

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

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

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57.  Lynch PM. Pharmacotherapy for inherited colorectal cancer. Expert Opin Pharmacother. 2010;11:1101-1108.

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58.  McLaughlin SD, Clark SK, Thomas-Gibson S, et al. Guide to endoscopy of the ileo-anal pouch following restorative proctocolectomy with ileal pouch-anal anastomosis; indications, technique, and management of common findings. Inflamm Bowel Dis. 2009;15:1256-1263.

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

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

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63.  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.

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64.  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.

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65.  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.

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

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71.  Perrier ND, van Heerden JA, Goellner JR, et al. Thyroid cancer in patients with familial adenomatous polyposis. World J Surg. 1998;22:738-743.

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

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

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75.  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.

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

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77.  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.

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79.  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.

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

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81.  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.

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