Feature Article

Hereditary colorectal cancer. What you need to know

Kathy Wu, Judy Kirk



Recognising hereditary colorectal cancer syndromes is important as there are implications for both patients and their families. General practitioners are often the first point of patient contact, thereby playing a pivotal role in providing information and guidance. A balance between risk awareness and understanding of the benefits versus limitations of genetic testing is important.

Key Points

  • Hereditary colorectal cancer (CRC) syndromes are uncommon but their diagnoses allow risk management to prevent CRC and other malignancies.
  • Family history and personal history are essential for clinical diagnosis.
  • Medicare and private health insurance do not fund genetic testing for most hereditary cancer syndromes.
  • Diagnostic genetic testing has limitations, and is usually reserved for patients meeting clinical diagnostic criteria.
  • Identification of a deleterious gene mutation in a family allows ‘predictive testing’ (which can determine family members with/without the mutation) and also opens up reproductive options (e.g. pre-implantation genetic diagnosis).
  • eviQ Cancer Treatments Online (http://www.eviq.org.au) has guidelines on referral, genetic testing and risk management, and information on familial cancer clinics in Australia.

    Picture credit: © Steve Oh.