Bibliography

Adenomatous Polyposis Syndromes

Familial Adenomatous Polyposis (FAP)

1. Burt RW, Bishop DT, Lynch HT, Rozen P, Winawer SJ. 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;68:655-65.
2. Bisgaard ML, Fenger K, Bulow S, Niebuhr E, Mohr J. Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat 1994;3:121-5.
3. Bulow S, Bjork J, Christensen IJ, Fausa O, Jarvinen H, Moesgaard F, Vasen HF. Duodenal adenomatosis in familial adenomatous polyposis. Gut 2004;53:381-6.
4. Arvanitis ML, Jagelman DG, Fazio VW, Lavery IC, McGannon E. Mortality in patients with familial adenomatous polyposis. Dis Colon Rectum 1990;33:639-42.
5. Truta B, Allen BA, Conrad PG, Kim YS, Berk T, Gallinger S, Bapat B, Terdiman JP, Sleisenger MH. Genotype and phenotype of patients with both familial adenomatous polyposis and thyroid carcinoma. Fam Cancer 2003;2:95-9.
6. Strate LL, Syngal S. Hereditary colorectal cancer syndromes. Cancer Causes Control 2005;16:201-13.
7. Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM, Krush AJ, Berk T, Cohen Z, Tetu B, et al. The molecular basis of Turcot's syndrome. N Engl J Med 1995;332:839-47.
8. Goss KH, Groden J. Biology of the adenomatous polyposis coli tumor suppressor. J Clin Oncol 2000;18:1967-79.
9. Nagase H, Nakamura Y. Mutations of the APC (adenomatous polyposis coli) gene. Hum Mutat 1993;2:425-34.
10. Groden J, Gelbert L, Thliveris A, Nelson L, Robertson M, Joslyn G, Samowitz W, Spirio L, Carlson M, Burt R, et al. Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals. Am J Hum Genet 1993;52:263-72.
11. Powell SM, Petersen GM, Krush AJ, Booker S, Jen J, Giardiello FM, Hamilton SR, Vogelstein B, Kinzler KW. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993;329:1982-7.
12. Giardiello FM, Brensinger JD, Petersen GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology 2001;121:198-213.
13. Sieber OM, Lamlum H, Crabtree MD, Rowan AJ, Barclay E, Lipton L, Hodgson S, Thomas HJ, Neale K, Phillips RK, Farrington SM, Dunlop MG, Mueller HJ, Bisgaard ML, Bulow S, Fidalgo P, Albuquerque C, Scarano MI, Bodmer W, Tomlinson IP, Heinimann K. Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas. Proc Natl Acad Sci U S A 2002;99:2954-8.
14. Meuller J, Kanter-Smoler G, Nygren AO, Errami A, Gronberg H, Holmberg E, Bjork J, Wahlstrom J, Nordling M. Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques. Genet Test 2004;8:248-56.

 

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