Hereditary Polyposis Syndromes

  • J.M. Carethers


The polyposis syndromes are a group of clinically distinct, autosomal dominantly inherited disorders characterized by the finding of multiple polyps in the gastrointestinal tract and a predisposition to cancer. There are two groups of syndromes. In the adenomatous polyposis syndromes, the polyps are dysplastic and the risk of colon cancer formation in patients with adenomas approaches 100%. These syndromes have provided key insights into the pathogenesis and genetics of sporadic, non-familial colorectal cancer. The second group is the hamartomatous polyposis syndromes in which mature but non-dysplastic and disorganized tissue characterizes the histology of the polyps. Some patients with hamartomatous syndromes may develop colon cancer, but extra-intestinal cancers may be more common, depending on the syndrome. Familiarity with these syndromes is paramount in patient management. The key management strategies include the surveillance and prevention of known complications of these syndromes. Many of the genes that are linked to these syndromes have now been described, which provides an avenue for genetic testing in individuals with a syndrome, as well as in family members prior to the development of signs of the syndrome.


Familial Adenomatous Polyposis Lynch Syndrome Familial Adenomatous Polyposis Patient Polyposis Syndrome Juvenile Polyp 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, Cruz-Correa M, Offerhaus JA. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 2000;119:1447–1453.PubMedCrossRefGoogle Scholar
  2. 2.
    Zigman AF, Lavine JE, Jones MC, Boland CR, Carethers JM. Localization of the Bannayan-Riley-Ruvalcaba syndrome to chromosome 10q23. Gastroenterol 1997;113:1433–1437.CrossRefGoogle Scholar
  3. 3.
    Huang SC, Chen CR, Lavine JE, Taylor SF, Newbury RO, Pham T-TT, Ricciardiello L, Carethers JM. Genetic heterogeneity in familial juvenile polyposis. Cancer Res 2000;60:6882–6885.PubMedGoogle Scholar
  4. 4.
    Whitelaw SC, Murday VA, Tomlinson IPM et al. Clinical and molecular features of the hereditary mixed polyposis syndrome. Gastroenterol 1997;112:327–334.CrossRefGoogle Scholar
  5. 5.
    Hamilton, SR; Liu, B; Parsons, RE et al. The molecular basis of Turcot’s syndrome. New Eng J Med 1995;332:839–47.PubMedCrossRefGoogle Scholar
  6. 6.
    Giardiello, FM; Hamilton, SR; Krush, AJ et al. Treatment of colonic and rectal adenomas with sulindac in familial adenomatous polyposis. New Eng J Med, 1993;328:1313–6.PubMedCrossRefGoogle Scholar
  7. 7.
    Marra G and Boland CR. Hereditary Nonpolyposis Colorectal Cancer (HNPCC): The Syndrome, the Genes, and an Historical Perspective. J Natl Cancer Inst 87:1114–1125, 1995.PubMedCrossRefGoogle Scholar
  8. 8.
    Liaw D, Marsh DJ, Li J, Dahia PLM et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 1997;16:64–67.PubMedCrossRefGoogle Scholar
  9. 9.
    Powell, SM; Petersen, GM; Krush, AJ et al. Molecular diagnosis of familial adenomatous polyposis. New Eng J Med, 1993;329:1982–7.PubMedCrossRefGoogle Scholar
  10. 10.
    Luce MC, Marra G, Chauhan DP et al. In vitro transcription/translation assay for the screening of hMLH1 and hMSH2 mutations in familial colon cancer. Gastroenterology 109:1368–1374, 1995.PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2004

Authors and Affiliations

  • J.M. Carethers
    • 1
  1. 1.GI SectionVA San Diego Healthcare SystemSan DiegoUSA

Personalised recommendations