Hereditary Colorectal Cancer: Genetics and Screening

Surg Clin North Am. 2015 Oct;95(5):1067-80. doi: 10.1016/j.suc.2015.05.004. Epub 2015 Jun 16.


Colorectal cancer (CRC) is the third most common cancer and the third leading cause of cancer death in men and women in the United States. About 30% of patients with CRC report a family history of CRC. However, only 5% of CRCs arise in the setting of a well-established mendelian inherited disorder. In addition, serrated polyposis is a clinically defined syndrome with multiple serrated polyps in the colorectum and an increased CRC risk for which the genetics are unknown. This article focuses on genetic and clinical aspects of Lynch syndrome, familial adenomatous polyposis, and MUTYH-associated polyposis.

Keywords: Colorectal cancer; Familial adenomatous polyposis; Hereditary nonpolyposis colorectal cancer; Lynch syndrome; MUTYH-associated polyposis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adenomatous Polyposis Coli / diagnosis*
  • Adenomatous Polyposis Coli / genetics
  • Adenomatous Polyposis Coli / therapy
  • Biomarkers, Tumor / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis / therapy
  • Early Detection of Cancer*
  • Genetic Predisposition to Disease*
  • Humans


  • Biomarkers, Tumor