Overview

The Victorian Clinical Genetics Services (VCGS) offers a comprehensive range of tests for inherited cancers. Using the power of next generation sequencing (NGS) and with industry driven design means our multi-gene 'panels' are tiered to target specific inherited cancers. The freedom to create customised panels, select our comprehensive inherited cancer panel and re-analysis options makes our inherited cancer testing more flexible and affordable.

Our panels provide 100% sequence coverage of the coding region which means there are no gaps in our sequence analysis.

Being aware of your risk of inherited cancer can benefit your family and allow
for early monitoring and intervention.

What is this test?

Inherited cancer genetics
There are many genes that are associated with inherited forms of cancer. Specific cancers can be caused by changes in a number of different genes, equally, a change in one gene may result in a range of different cancers. Someone who carries one of these gene changes may not necessarily develop cancer but they are at a higher risk of developing cancer. Knowing that you carry one of these gene changes allows you to have regular check ups or undergo preventive treatment. If you have children, you have a 50% chance (1 in 2) of passing any gene change on. Therefore, being aware of your risk can be beneficial for you family.

How does cancer panel testing work?
At VCGS, genetic testing for inherited cancers is performed in ‘panels’ using a technology called next generation sequencing (NGS). NGS allows us to look at many genes at the same time using a single test. Each panel includes genes that are known to cause or predispose individuals to certain cancers.

NGS is used to read the genetic content (DNA) of each gene on the panel. Changes in the DNA sequence are known as mutations or variants. These variants can be benign (not associated with disease), pathogenic (may result in cancer) or their significance may not yet be known. VCGS uses a team of clinical geneticists, genetic counsellors and clinical scientists to determine the significance of these variants.

What conditions does this test look for?

VCGS offers a number of inherited cancer panels which are organised into groups of genes known to cause or predispose an individual to specific types of cancer. Our comprehensive cancer panel includes all genes known to cause inherited cancer.

See below for our list of inherited cancer panels and our supplementary testing options which include prenatal and cascade testing.

Breast and Ovarian

Colorectal Cancer

Familial adenomatous polyposis (FAP) is characterised by cancer of the large intestine (colon) and rectum. People with classic FAP may develop noncancerous polyps that eventually become cancerous if not removed.

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Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is a disorder that increases an individuals risk of many types of cancer, but particularly cancers of the colon.

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Comprehensive Cancer Panel

There are many genes that are associated with inherited forms of cancer. Changes in a single gene can cause different types of cancer and equally a single type of cancer can be caused by changes in many different genes. VCGS offers a comprehensive cancer panel that covers all genes that are known to be associated with inherited forms of cancer.

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Endometrial

Targets the genes most frequently associated with endometrial cancer.

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Pancreatic

Targets the genes most frequently associated with pancreatic cancers.

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Retinoblastoma

Retinoblastoma is a rare eye cancer that typically develops in early childhood. Retinoblastoma can affect one or both eyes and is often curable when detected early.

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Supplementary Inherited Cancer Testing

Cascade testing is performed when a familial variant is known using Sanger sequencing or MLPA.

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VCGS provides the flexibility to customise the genes to be targeted. Up to 5 genes that are contained within the Comprehensive Inherited Cancer panel can be included in a custom panel.

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MLPA screening is performed when panel testing is negative and a copy number variant is suspected.

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This test is performed when we are validating a variant found in the research setting or a variant was found in an external laboratory and familial cascade testing is required.

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May be required for some familial variants.

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If prenatal testing is being considered, please contact the laboratory.

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Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. Most affected individuals experience joint deformities called contractures, slowly progressive muscle weakness and wasting, beginning in muscles of the upper arms and lower legs and progressing to muscles in the shoulders and hips. Mutations in the Emerin (EMD) and Lamin (LMNA) genes cause of X-linked and autosomal dominant Emery-Dreifuss muscular dystrophy.

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How do I arrange a test?

In Victoria inherited cancer testing can be arranged through the Family Cancer Centre or through a doctor who specialises in inherited cancers. Your doctor will discuss with you the benefits and risks of testing. Based on your clinical presentation, he/she will select the most appropriate test panel.

For testing to proceed we require a request form signed by your referring doctor and a completed patient consent form.

We welcome requests for inherited cancer testing outside Victoria. Please contact the laboratory to find out how to arrange testing.

Testing is usually performed on a blood sample and typically takes 8-10 weeks.

Frequently asked questions

How much does inherited cancer panel testing cost?

In Victoria there is no out of pocket cost for inherited cancer testing. Testing is funded through the Family Cancer Centre and the state government.

For interstate, international and privately funded referrals, please contact the laboratory for test pricing.

How will I get my results?

Panel testing typically takes 8-10 weeks and your results will be reported to your referring doctor. They will discuss any significant results with you and may refer you to a genetic counsellor if appropriate. Your results may also provide information that could be relevant to other family members.

What do my results mean?

Once your sample has been tested, a team of experts review any DNA changes or variants found. The team will determine the significance of any variants, using all the available published scientific literature.

Variants fall into a number of categories:

Class 5: Pathogenic Variant:
Pathogenic variants are considered disease-causing
  • At-risk unaffected relatives can be offered predictive gene testing.
  • Other affected relatives can be offered confirmatory testing.
  • Prenatal diagnosis for the pathogenic variant is possible.
Class 4: Likely pathogenic variant:
The level of evidence that likely pathogenic variants are disease-causing is very high.
  • At-risk unaffected relatives can be offered gene testing in conjunction with clinical screening.
  • Other affected relatives can be offered confirmatory testing.
  • The variant may be considered for use in prenatal diagnosis after detailed discussion with a clinical geneticist or genetic counsellor.
Class 3A: Variant(s) of unknown significance with high clinical significance: VUS with high clinical significance are variants that have evidence to suggest they are pathogenic but there is not enough information to classify them as class 4.
  • Class 3A variants cannot be used for predictive testing or prenatal diagnosis.
  • Co-segregation studies in affected relatives, or testing to determine if the variant is de-novo is strongly recommended as these studies may provide additional evidence to clarify the pathogenicity of class 3A variants.
  • These variants may be re-classified based on new information; for example, family and/or functional studies (if performed).
Class 3B: Variant(s) of unknown significance: Class 3B VUS are variants for which there is insufficient evidence to classify the variant as either disease causing or likely benign.
  • Class 3B variants cannot be used for predictive testing or prenatal diagnosis.
  • In selected families, co-segregation studies in affected relatives may help to clarify pathogenicity of a class 3 VUS.
Class 3C: Variant(s) of unknown significance with low clinical significance: Class 3C VUS are variant(s) for which the evidence suggests they are likely to be benign.
  • Class 3C variants cannot be used for predictive testing or prenatal diagnosis.
No variant of significance was found.
  • Reanalysis options may be considered if the family history strongly indicates a genetic cause.

I carry a pathogenic variant but I have no symptoms. What does this mean?

If you carry a pathogenic variant (gene change that causes cancer) but have no symptoms, you have an increased risk of developing that or related cancers. This risk will vary depending on the type of variant you have, the type of cancer and any environmental risk factors. It is recommended that you have regular check-ups with your doctor.

It is also worth noting that you have a 50% chance of passing this variant to any biological child. VCGS can provide support when discussing genetic results with family members.

What happens to my genetic information?

Inherited cancer panel testing generates a large amount of genetic information. Access to and storage of genetic information is strictly governed by national laboratory and health privacy guidelines. You will be required to sign a consent form for panel testing and this form describes how your information can be used.