Colorectal cancer is the third most common type of newly diagnosed cancer in Australia. It is estimated that 30% of patients with colorectal cancer have a family history of the disease, and up to 10% have genomic variants associated with inherited cancer syndromes including Lynch syndrome and inherited polyposis syndromes.
Identification of an inherited colorectal cancer syndrome has important implications for personalised cancer risk assessment, surviellance, treatment decisions and cascade testing of family members.
MBS rebated diagnostic and predictive testing for the genes associated with these syndromes is now available for patients who meet criteria and when requested by a specialist medical practitioner. While clinical guidelines recommend germline testing for individuals with a ≥5% risk of Lynch syndrome (as calculated by validated risk prediction models), current MBS criteria require a risk of ≥10%.
Detection of pathogenic variants in genes associated with inherited colorectal cancer syndromes:
We offer a comprehensive suite of germline testing panels to support the diagnosis of inherited colorectal cancer syndromes.
Lynch syndrome is one of the most common cancer predisposition syndromes, and confers a significantly increased lifetime risk of colorectal cancer, endometrial cancer and multiple other cancers. A diagnosis of Lynch Syndrome is confirmed by the detection of a pathogenic germline variant in one of the MMR genes, which are found in our BRAoVO Lynch panel.
We now offer a comprehensive polyposis panel that includes genes associated with both adenomatous and non‑adenomatous polyposis syndromes. This panel is suitable for individuals with multiple colorectal polyps where the underlying cause is uncertain, or where a broad assessment of inherited polyposis is clinically indicated. This panel enables assessment of autosomal dominant and recessive polyposis syndromes, including attenuated presentations and non‑adenomatous phenotypes.
For patients with colorectal and/or endometrial cancer where the clinical presentation does not clearly fit a single syndrome, we offer a colorectal/endometrial cancer panel. This broader panel includes genes associated with inherited susceptibility to colorectal and endometrial cancers beyond classical Lynch syndrome. This panel supports comprehensive evaluation in individuals with cancer diagnoses, overlapping clinical features, or complex family histories.
Talk to your patient about their options, perform pre-test genetic counselling (if required) and request a test.
Have your patient visit one of our collection centres to get their sample collected.
Discuss the results with your patient and advise genetic counselling if necessary.