Familial colorectal cancer syndromes: an overview of clinical management

Expert Rev Gastroenterol Hepatol. 2015 Jun;9(6):757-64. doi: 10.1586/17474124.2015.1026328. Epub 2015 Mar 16.

Abstract

Familial colorectal cancer syndromes pose a complex challenge to the treating clinician. Once a syndrome is recognized, genetic testing is often required to confirm the clinical suspicion. Management from that point is usually based on disease-specific guideline recommendations targeting risk reduction for the patient and their relatives through surgery, surveillance and chemoprophylaxis. The aim of this paper is to provide an up-to-date summary of the most common familial syndromes and their medical and surgical management, with specific emphasis on evidence-based interventions that improve patient outcome, and to present the information in a manner that is easily readable and clinically relevant to the treating clinician.

Keywords: Lynch; adenoma; colorectal cancer; familial; polyposis.

Publication types

  • Review

MeSH terms

  • Adenomatous Polyposis Coli / genetics
  • Adenomatous Polyposis Coli / pathology
  • Adenomatous Polyposis Coli / therapy*
  • Biomarkers, Tumor / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis / pathology
  • Colorectal Neoplasms, Hereditary Nonpolyposis / therapy*
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Heredity
  • Humans
  • Intestinal Polyposis / congenital*
  • Intestinal Polyposis / genetics
  • Intestinal Polyposis / pathology
  • Intestinal Polyposis / therapy
  • Neoplastic Syndromes, Hereditary / genetics
  • Neoplastic Syndromes, Hereditary / pathology
  • Neoplastic Syndromes, Hereditary / therapy*
  • Pedigree
  • Peutz-Jeghers Syndrome / genetics
  • Peutz-Jeghers Syndrome / pathology
  • Peutz-Jeghers Syndrome / therapy*
  • Phenotype
  • Predictive Value of Tests
  • Treatment Outcome

Substances

  • Biomarkers, Tumor

Supplementary concepts

  • Juvenile polyposis syndrome