Hereditary colorectal cancer: MYH-associated polyposis and other newly identified disorders

Best Pract Res Clin Gastroenterol. 2009;23(1):75-87. doi: 10.1016/j.bpg.2008.11.013.


Historically, discussions of familial adenomatous polyposis and hereditary non-polyposis colon cancer have dominated lectures and writings on hereditary predisposition to colorectal cancer. In the last decade, the subject has grown well beyond the two entities. In this paper, five topics relevant to genetic risk assessment for colorectal cancer are reviewed. These include the autosomal recessive MYH-associated polyposis, hyperplastic polyposis and serrated pathway syndrome, the association of autosomal dominant juvenile polyposis with hereditary hemorrhagic telangiectasia, familial colorectal cancer type X, and the syndrome of biallelic DNA mismatch repair gene mutations. Knowledge of these entities may assist clinicians to recognize and manage cases that do not fit into the more common syndromes of colorectal cancer predisposition.

Publication types

  • Review

MeSH terms

  • Adenomatous Polyposis Coli / genetics
  • Colorectal Neoplasms / enzymology
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / pathology
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • DNA Glycosylases / genetics*
  • DNA Mismatch Repair / genetics
  • Gene Expression Regulation, Enzymologic
  • Gene Expression Regulation, Neoplastic*
  • Genetic Predisposition to Disease
  • Humans
  • Hyperplasia
  • Intestinal Polyposis / enzymology
  • Intestinal Polyposis / genetics*
  • Intestinal Polyposis / pathology
  • Pedigree
  • Peutz-Jeghers Syndrome / genetics
  • Precancerous Conditions / enzymology
  • Precancerous Conditions / genetics*
  • Precancerous Conditions / pathology
  • Telangiectasia, Hereditary Hemorrhagic / genetics


  • DNA Glycosylases
  • mutY adenine glycosylase