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.
- 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.