Hereditary Colorectal Cancer

Hematol Oncol Clin North Am. 2022 Jun;36(3):429-447. doi: 10.1016/j.hoc.2022.02.002. Epub 2022 May 13.


Around 10% to 16% of colorectal cancer patients have a pathogenic variant in a cancer susceptibility gene. Some of these variants are in cancer genes that are associated with colorectal cancer while others are not. The hereditary colorectal cancer syndromes can be divided into two major categories, the nonpolyposis and the polyposis conditions. The nonpolyposis conditions can be divided into those that lead to colorectal tumors with defective mismatch repair and those that do not. The polyposis conditions are further divided by predominant histology into the adenomatous, hamartomatous, serrated, and mixed polyposis conditions. All of these conditions are described in detail herein.

Keywords: Cancer; Colorectal; Hereditary; Lynch syndrome; Polyposis.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenomatous Polyposis Coli* / diagnosis
  • Adenomatous Polyposis Coli* / genetics
  • Colorectal Neoplasms* / diagnosis
  • Colorectal Neoplasms* / genetics
  • Colorectal Neoplasms* / therapy
  • Colorectal Neoplasms, Hereditary Nonpolyposis* / diagnosis
  • Colorectal Neoplasms, Hereditary Nonpolyposis* / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis* / therapy
  • Humans
  • Neoplastic Syndromes, Hereditary* / diagnosis
  • Neoplastic Syndromes, Hereditary* / genetics