A Novel Germline Mutation in Exon 15 of the APC Gene in Attenuated Familial Adenomatous Polyposis: A Report of Two Cases

키워드

참고문헌 (30)

1. Bisgaard ML, "Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate", Hum Mutat, 3, pp.121~125 (1994)
2. Bussey HJ, "Historical developments in familial polyposis coli", Semin Surg Oncol, 3, pp.67~70 (1987)
3. Galiatsatos P, "Familial adenomatous polyposis", Am J Gastroenterol, 101, pp.385~398 (2006)
4. Knudsen AL, "Attenuated familial adenomatous polyposis (AFAP). A review of the literature", Fam Cancer, 2, pp.43~55 (2003)
5. Hernegger GS, "Attenuated familial adenomatous polyposis: an evolving and poorly understood entity", Dis Colon Rectum, 45, pp.127~134 (2002)
6. Young J, "A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9", Hum Mutat, 11, pp.450~455 (1998)
7. van der Luijt RB, "APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis", Hum Genet, 96, pp.705~710 (1995)
8. Varesco L, "Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonic cancer death", Hum Genet, 93, pp.281~286 (1994)
9. Raoof M, "Variable phenotypic expression of identical MYH germline mutations in siblings with attenuated familial adenomatous polyposis", Am Surg, 73, pp.1250~1253 (2007)
10. Lynch HT, "Classification of familial adenomatous polyposis: a diagnostic nightmare", Am J Hum Genet, 62, pp.1288~1289 (1998)
11. Giardiello FM, "Phenotype and cancer risk of various polyposis syndromes", Eur J Cancer, 31A, pp.1085~1087 (1995)
12. Sturt NJ, "Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation", Gut, 53, pp.1832~1836 (2004)
13. Contessini-Avesani E, "Familial adenomatous polyposis. Surgical treatment: when and how", Tech Coloproctol, (8 Suppl 2), pp.S309~S314 (2004)
14. Soravia C, "Genotype-phenotype correlations in attenuated adenomatous polyposis coli", Am J Hum Genet, 62, pp.1290~1301 (1998)
15. Vasen HF, "Clinical diagnosis and management of hereditary colorectal cancer syndromes", J Clin Oncol, 18(21 Suppl), pp.81S~92S (2000)
16. Vasen HF, "Guidelines for the clinical management of familial adenomatous polyposis (FAP)", Gut, 57, pp.704~713 (2008)
17. Giardiello FM, "Phenotypic expression of disease in families that have mutations in the 5’ region of the adenomatous polyposis coli gene", Ann Intern Med, 126, pp.514~519 (1997)
18. Esaki M, "Effect of sulindac treatment for attenuated familial adenomatous polyposis with a new germline APC mutation at codon 161: report of a case", Dis Colon Rectum, 45, pp.1397~1402 (2002)
19. Matsumoto T, "Effect of the non-steroidal anti-inflammatory drug sulindac on colorectal adenomas of uncolectomized familial adenomatous polyposis", J Gastroenterol Hepatol, 21(1 Pt 2), pp.251~257 (2006)
20. Ferguson CB, "Nine-year follow-up of a patient with attenuated familial adenomatous polyposis treated with cyclo-oxygenase-2 inhibitors", Scand J Gastroenterol, 43, pp.1534~1536 (2008)
21. Bhatnagar P, "Variation of a variation: case report of attenuated familial adenomatous polyposis", HPB (Oxford), 8, pp.155~156 (2006)
22. Hofgartner WT, "Gastric adenocarcinoma associated with fundic gland polyps in a patient with attenuated familial adenomatous polyposis", Am J Gastroenterol, 94, pp.2275~2281 (1999)
23. Beaton MD, "Colonic interposition in a woman with attenuated familial adenomatosis polyposis: does the location of the colon affect polyp formation?", Can J Gastroenterol, 22, pp.634~636 (2008)
24. Su LK, "Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15", Hum Genet, 111, pp.88~95 (2002)
25. Nieuwenhuis MH, "Genotype predicting phenotype in familial adenomatous polyposis: a practical application to the choice of surgery", Dis Colon Rectum, 52, pp.1259~1263 (2009)
26. Nielsen M, "Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review", Eur J Hum Genet, 15, pp.1034~1042 (2007)
27. Sieber OM, "Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or “multiple” colorectal adenomas", Proc Natl Acad Sci U S A, 99, pp.2954~2958 (2002)
28. Park JG, "Risk of gastric cancer among Korean familial adenomatous polyposis patients. Report of three cases", Dis Colon Rectum, 35, pp.996~998 (1992)
29. Garrean S, "Gastric adenocarcinoma arising from fundic gland polyps in a patient with familial adenomatous polyposis syndrome", Am Surg, 74, pp.79~83 (2008)
30. Zwick A, "Gastric adenocarcinoma and dysplasia in fundic gland polyps of a patient with attenuated adenomatous polyposis coli", Gastroenterology, 113, pp.659~663 (1997)

관련 논문AI추천