Familial Adenomatous Polyposis


Familial adenomatous polyposis is an inherited cancer predisposition syndrome characterized by multiple benign tumors (adenomas) of the large bowel.

Keywords: colon; rectum; colorectal; adenoma; carcinoma; polyposis; adenomatosis polyposis coli


Al‐Tassan N, Chmiel NH, Maynard J, et al. (2002) Inherited variants of MYH associated with somatic G:C → T:A mutations in colorectal tumors. Nature Genetics 30: 227–232.

Crabtree MD, Tomlinson IP, Hodgson SV, et al. (2002) Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes. Gut 51: 420–423.

Fearon ER and Vogelstein B (1990) A genetic model for colorectal tumorigenesis. Cell 61: 759–767.

Groden J, Thliveris A, Samowitz W, et al. (1991) Identification and characterization of the familial adenomatous polyposis coligene. Cell 66: 589–600.

Groves C, Lamlum H, Crabtree M, et al. (2002) Mutation cluster region, association between germ line and somatic mutations and genotype–phenotype correlation in upper gastrointestinal familial adenomatous polyposis. American Journal of Pathology 160: 2055–2061.

Laken SJ, Petersen GM, Gruber SB, et al. (1997) Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nature Genetics 17: 79–83.

Lamlum H, Al‐Tassan N, Jaeger E, et al. (2000) Germ line APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. Human Molecular Genetics 9: 2215–2221.

Lamlum H, Ilyas M, Rowan A, et al. (1999) The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germ line mutation: a new facet to Knudson's ‘two‐hit’ hypothesis. Nature Medicine 5: 1071–1075.

Tomlinson IP, Beck NE, Neale K and Bodmer WF (1996) Variants at the secretory phospholipase A2 (PLA2G2A) locus: analysis of associations with familial adenomatous polyposis and sporadic colorectal tumors. Annals of Human Genetics 60: 369–376.

Tomlinson I, Rahman N, Frayling I, et al. (1999) Inherited susceptibility to colorectal adenomas and carcinomas: evidence for a new predisposition gene on 15q14–q22. Gastroenterology 116: 789–795.

Further Reading

Bodmer W (1999) Familial adenomatous polyposis (FAP) and its gene, APC. Cytogenetics and Cell Genetics 86: 99–104.

Dukes CE (1952) Familial intestinal polyposis. Annals of the Royal College of Surgeons of England 10: 293–304.

Fearnhead NS, Britton MP and Bodmer WF (2001) The ABC of APC. Human Molecular Genetics 10: 721–733.

Fodde R (2002) The APC gene in colorectal cancer. European Journal of Cancer 38: 867–871.

Fodde R, Smits R and Clevers H (2001) APC, signal transduction and genetic instability in colorectal cancer. National Review of Cancer 1: 55–67.

Goss KH and Groden J (2000) Biology of the adenomatous polyposis coli tumor suppressor. Journal of Clinical Oncology 18: 1967–1979.

Phillips RKS, Spigelman AD and Thomson JPS (eds.) (1994) Familial Adenomatous Polyposis and Other Polyposis Syndromes London: Edward Arnold.

Spirio L, Olschwang S, Groden J, et al. (1993) Alleles of the APC gene: an attenuated form of familial polyposis. Cell 75: 951–957.

Wong NA and Pignatelli M (2002) Beta‐catenin: a linchpin in colorectal carcinogenesis? American Journal of Pathology 160: 389–401.

Web Links

APC (adenomatosis polyposis coli); Locus ID: 324. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=324

APC (adenomatosis polyposis coli); MIM number: 175100. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?175100

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How to Cite close
Frayling, Ian M(Jan 2006) Familial Adenomatous Polyposis. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005966]