Inherited colorectal cancer syndromes

Inherited colorectal cancer syndromes are linked to 5 - 10% of colorectal cancers through inherited genetic variants.
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Inherited colorectal cancer syndromes

Inherited colorectal cancer syndromes are linked to 5 - 10% of colorectal cancers through inherited genetic variants.
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What are Inherited Colorectal Cancer Syndromes?

Colorectal cancer is one of the most common cancers in Australia. About 30% of people with colorectal cancer have a family history of the disease, and up to 10% have genetic changes linked to inherited cancer syndromes like Lynch syndrome and Familial Adenomatous Polyposis (FAP) or MUTYH-Associated Polyposis (MAP).

Our Inherited Colorectal Cancer Syndrome tests

Lynch Syndrome Panel

Lynch syndrome is a common inherited condition that increases the risk of colorectal cancer, endometrial cancer, and other cancers. It is caused by specific changes in certain genes (MLH1, MSH2, MSH6, PMS2, and EPCAM).

Genetic testing can identify these changes, allowing patients and their families to take steps to reduce their cancer risk through regular screening and preventive measures.

FAP/MAP Panel

This test looks for genetic changes linked to Familial Adenomatous Polyposis (FAP) and MUTYH-Associated Polyposis (MAP), which are conditions that increase the risk of developing colorectal cancer.

  • FAP is a condition where hundreds to thousands of polyps (growths) form in the digestive tract, often leading to cancer before age 40 if not treated. FAP is usually caused by changes in the APC gene, and in about one-third of cases, it happens without a family history of the disease.
  • MAP is similar to FAP but is caused by changes in the MUTYH gene and is inherited differently. People with MAP also develop multiple polyps, which again significantly increases the risk of developing colorectal cancer.

Identifying these pathogenic variants early allows for proactive management, including enhanced screening, preventive surgeries, and other risk-reducing strategies.

Why Get Tested?

When there is a family history, both the Lynch Syndrome and FAP/MAP Panels can help in assessing your inherited colorectal cancer risk. Knowing your genetic status allows for earlier, more personalised interventions, potentially preventing cancer or catching it early when it's easier to treat.

Your doctor will be able to advise if you are eligible for Medicare or not. Pre-test genetic counselling is required prior to undertaking genetic testing.

Patients' process

Step 1

Get a doctor's request

Your doctor will discuss your family history with you, and whether testing for inherited colorectal cancer syndromes could be useful. They will complete a dedicated request form and provide pre-test genetic counselling, which you will need to sign that you have received.

Step 2

Have a blood test

Medicare may not cover the cost of this test. If you will need to pay for your test, do so here prior to having your blood taken at a local Healius Pathology collection centre. Write your receipt number on the request form.

Step 3

Results consultation with your doctor

Your results will be delivered to your doctor within 4 - 5 weeks of your sample arriving at the laboratory.

FAQ

Who should consider having this test?
Why is genetic counselling so important?
Which genes are covered in these tests?
What do the results mean?
How long will it take to receive the results?
What happens is I change my mind about testing?
Does Medicare or private health insurance cover the cost of testing?
Refund Policy

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