Familial colorectal cancer

Intern Med J. 2015 May;45(5):482-91. doi: 10.1111/imj.12736.

Abstract

Identifying individuals with a genetic predisposition to developing familial colorectal cancer (CRC) is crucial to the management of the affected individual and their family. In order to do so, the physician requires an understanding of the different gene mutations and clinical manifestations of familial CRC. This review summarises the genetics, clinical manifestations and management of the known familial CRC syndromes, specifically Lynch syndrome, familial adenomatous polyposis, MUTYH-associated neoplasia, juvenile polyposis syndrome and Peutz-Jeghers syndrome. An individual suspected of having a familial CRC with an underlying genetic predisposition should be referred to a familial cancer centre to enable pre-test counselling and appropriate follow up.

Keywords: adenomatous polyposis coli; colorectal neoplasm; hereditary; hereditary nonpolyposis; neoplastic syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenomatous Polyposis Coli / diagnosis
  • Adenomatous Polyposis Coli / epidemiology*
  • Adenomatous Polyposis Coli / genetics
  • Australia / epidemiology
  • Chemoprevention / methods
  • Colorectal Neoplasms / diagnosis
  • Colorectal Neoplasms / epidemiology*
  • Colorectal Neoplasms / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis
  • Colorectal Neoplasms, Hereditary Nonpolyposis / epidemiology*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Female
  • Genetic Counseling
  • Genetic Predisposition to Disease / epidemiology*
  • Genetic Testing
  • Humans
  • Intestinal Polyposis / congenital*
  • Intestinal Polyposis / diagnosis
  • Intestinal Polyposis / epidemiology
  • Intestinal Polyposis / genetics
  • Male
  • Mutation / genetics
  • Neoplastic Syndromes, Hereditary / diagnosis
  • Neoplastic Syndromes, Hereditary / epidemiology*
  • Neoplastic Syndromes, Hereditary / genetics
  • New Zealand / epidemiology
  • Peutz-Jeghers Syndrome / diagnosis
  • Peutz-Jeghers Syndrome / epidemiology*
  • Peutz-Jeghers Syndrome / genetics
  • Prevalence

Supplementary concepts

  • Juvenile polyposis syndrome