Genetic Conditions > familial adenomatous polyposis >

References

These sources were used to develop the Genetics Home Reference condition summary on familial adenomatous polyposis.

Attard TM, Cuffari C, Tajouri T, Stoner JA, Eisenberg MT, Yardley JH, Abraham SC, Perry D, Vanderhoof J, Lynch H. Multicenter experience with upper gastrointestinal polyps in pediatric patients with familial adenomatous polyposis. Am J Gastroenterol. 2004 Apr;99(4):681-6. PubMed citation
Baglioni S, Genuardi M. Simple and complex genetics of colorectal cancer susceptibility. Am J Med Genet. 2004 Aug 15;129C(1):35-43. PubMed citation
Bienz M. APC. Curr Biol. 2003 Mar 18;13(6):R215-6. Review. No abstract available. PubMed citation
Cheadle JP, Sampson JR. Exposing the MYtH about base excision repair and human inherited disease. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R159-65. Epub 2003 Aug 05. Review. PubMed citation
Crabtree M, Sieber OM, Lipton L, Hodgson SV, Lamlum H, Thomas HJ, Neale K, Phillips RK, Heinimann K, Tomlinson IP. Refining the relation between 'first hits' and 'second hits' at the APC locus: the 'loose fit' model and evidence for differences in somatic mutation spectra among patients. Oncogene. 2003 Jul 3;22(27):4257-65. PubMed citation
Jarvinen HJ, Paivi P. The complex genotype-phenotype relationship in familial adenomatous polyposis. Eur J Gastroenterol Hepatol. 2004 Jan;16(1):5-8. PubMed citation
Knudsen AL, Bisgaard ML, Bulow S. Attenuated familial adenomatous polyposis (AFAP). A review of the literature. Fam Cancer. 2003;2(1):43-55. Review. PubMed citation
Lipton L, Tomlinson I. The multiple colorectal adenoma phenotype and MYH, a base excision repair gene. Clin Gastroenterol Hepatol. 2004 Aug;2(8):633-8. PubMed citation
Lynch HT, Shaw TG, Lynch JF. Inherited predisposition to cancer: A historical overview. Am J Med Genet. 2004 Aug 15;129C(1):5-22. PubMed citation
National Cancer Institute: Genetics of Colorectal Cancer
Rowley PT. Inherited susceptibility to colorectal cancer. Annu Rev Med. 2005;56:539-54. Review. PubMed citation
Rustgi AK. The genetics of hereditary colon cancer. Genes Dev. 2007 Oct 15;21(20):2525-38. Review. PubMed citation
Sampson JR, Dolwani S, Jones S, Eccles D, Ellis A, Evans DG, Frayling I, Jordan S, Maher ER, Mak T, Maynard J, Pigatto F, Shaw J, Cheadle JP. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet. 2003 Jul 5;362(9377):39-41. PubMed citation
Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, Bisgaard ML, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJ, Tomlinson IP. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med. 2003 Feb 27;348(9):791-9. PubMed citation
Wang L, Baudhuin LM, Boardman LA, Steenblock KJ, Petersen GM, Halling KC, French AJ, Johnson RA, Burgart LJ, Rabe K, Lindor NM, Thibodeau SN. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology. 2004 Jul;127(1):9-16. PubMed citation


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