The Genetics of Colorectal Cancer

Surg Oncol Clin N Am. 2015 Oct;24(4):683-703. doi: 10.1016/j.soc.2015.06.006. Epub 2015 Jul 15.


The hereditary colorectal cancer syndromes comprise a heterogeneous group of conditions with varying cancer risks, gastrointestinal polyp types, nonmalignant findings, and inheritance patterns. Although each one is unique in its own right, these syndromes often have overlapping features, making diagnoses difficult in select cases. Obtaining accurate polyp history (histologic type, number, location, and age of onset), cancer history (location, type, and age of onset), and other nonmalignant features is imperative in determining the likely disease diagnosis and thereby the appropriate genetic tests for precise diagnosis in a timely fashion. This process often necessitates collaboration among surgical oncology team members and genetic counselors.

Keywords: Familial adenomatous polyposis; Hereditary colon cancer; Juvenile polyposis; Lynch syndrome; MUTYH-associated polyposis; Peutz-Jeghers syndrome.

Publication types

  • Review

MeSH terms

  • Colorectal Neoplasms / diagnosis*
  • Colorectal Neoplasms / genetics*
  • Genetic Testing*
  • Humans
  • Risk Factors