APC gene testing for familial adenomatosis polyposis
- PMID: 22851119
- PMCID: PMC3771684
- DOI: 10.1001/jama.2012.9516
APC gene testing for familial adenomatosis polyposis
Comment on
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Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas.JAMA. 2012 Aug 1;308(5):485-492. doi: 10.1001/jama.2012.8780. JAMA. 2012. PMID: 22851115 Free PMC article.
References
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- Joslyn G, Carlson M, Thliveris A, et al. Identification of deletion mutations and three new genes at the familial polyposis locus. Cell. 1991 Aug 9;66(3):601–613. - PubMed
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- Kinzler KW, Nilbert MC, Su LK, et al. Identification of FAP locus genes from chromosome 5q21. Science. 1991 Aug 9;253(5020):661–665. - PubMed
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- Sieber OM, Lipton L, Crabtree M, et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. The New England journal of medicine. 2003 Feb 27;348(9):791–799. - PubMed
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- Spier I, Horpaopan S, Vogt S, et al. Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis. Human mutation. 2012 Jul;33(7):1045–1050. - PubMed
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- Rio Frio T, Lavoie J, Hamel N, et al. Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia. The New England journal of medicine. 2010 Dec 30;363(27):2628–2637. - PubMed
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