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BRCA1 is a ‘cancer protection’ gene that helps to protect against breast, ovarian and prostate cancer. If you receive a BRCA1 gene either from your mother or father that isn’t working, it is called having a BRCA1 gene mutation. 

• Women with a mutated BRCA1 gene have about a 70% chance of developing breast cancer and about a 45% chance of developing ovarian cancer over their lifetime.
• Men have about a 20% chance of developing prostate cancer and about a 1% chance of developing breast cancer over their lifetime.  
• Both men and women with a faulty BRCA1 gene also have an increased chance of developing pancreatic cancer over their lifetime, but the exact chance is unknown.

Read more about the BRCA1 gene mutation at EVIQ

BRCA2 is also a ‘cancer protection’ gene that helps to protect against breast, ovarian, prostate and pancreatic cancer. If you receive one either from your mother or father that isn’t working, it’s called having a BRCA2 gene mutation. 

• Women who have a mutated BRCA2 gene have about a 70% chance of developing breast cancer and about a 15% chance of developing ovarian cancer over their lifetime.
• Men have about a 25% chance of developing prostate cancer and about a 4% chance of developing breast cancer over their lifetime.  

• Both men and women with a faulty BRCA2 gene also have an increased chance of developing pancreatic cancer over their lifetime, but the exact chance is unknown.

Read more about the BRCA2 gene mutation at EVIQ

Whilst BRCA1 and 2 are the most common of the genetic mutations that can increase the risk of breast and/or ovarian cancer, PALB2 is another mutation that can also result in an increased risk of breast cancer. It’s linked to breast cancer in men and women, ovarian cancer in women, and cancer of the pancreas in some families.  

If you receive a gene from your mother or father that isn’t working, it’s called a PALB2 gene mutation. 

• Women who have a mutated PALB2 gene have about a 55% chance of developing breast cancer and about a 5% chance of developing ovarian cancer over their lifetime.
• Men have a 1% chance of developing breast cancer over their lifetime.  Men with a faulty PALB2 gene also have an increased chance of developing prostate cancer over their lifetime, but the exact chance is unknown. 
• Men and women with a mutated PALB2 gene have about a 3% chance of developing pancreatic cancer over their lifetime.

Read more about the PALB2 gene mutation at EVIQ

BRIP1 is another ‘cancer protection’ gene. It can help protect against ovarian cancer and you can receive one either from your mother or father. When one of these genes isn’t working, it’s called a BRIP1 gene mutation. 

• Women who have a mutated BRIP1 gene have about a 6% chance of developing ovarian cancer over their lifetime.

Read more about the BRIP1 gene mutation at EVIQ

The ATM gene can help protect against breast cancer, prostate cancer and pancreatic cancer. When you receive a mutated ATM gene from your mother or father, it’s associated with an increased risk of these cancers. 

• Women who have a mutated c.7271T>G ATM gene have about a 50% chance of developing breast cancer over their lifetime. Women with a mutation elsewhere in the ATM gene also have increased risk of developing breast cancer, but this is a reduced risk of less than 30%.
• Men with a faulty ATM gene have an increased chance of developing prostate cancer over their lifetime, but the exact chance is unknown. 
• Both men and women with an ATM gene mutation may also have an increased risk of developing pancreatic cancer. 

Read more about the ATM gene mutation at EVIQ

RAD51C is a ‘cancer protection’ gene that helps to protect against ovarian and breast cancer. Everyone has two RAD51C genes (one from their mother, and one from their father). If one gene isn’t working, this is known as having a RAD51C mutation.

• Women who have a RAD51C gene mutation have about a 10% chance of developing ovarian cancer over their lifetime.
• Women who have a mutated RAD51C gene have about a 20% chance of developing breast cancer over their lifetime. However, the chance of developing breast

Read more about the RAD51C gene mutation at EVIQ

RAD51D is a ‘cancer protection’ gene that helps to protect against ovarian and breast cancer. Everyone has two RAD51D genes (one from their mother, and one from their father). If one gene isn’t working, this is known as having a faulty RAD51D gene, or having a RAD51D mutation.

• Women with a mutated RAD51D gene have about a 10% chance of developing ovarian cancer over their lifetime.
• Women with a mutated RAD51D gene, have about a 20% chance of developing breast cancer over their lifetime. However, the chance of developing breast cancer may be higher or lower, depending on their family history of breast cancer.

Read more about the RAD51D gene mutation at EVIQ

CDH1 is a ‘cancer protection’ gene that helps to protect against stomach and breast cancer.

Genetic testing can reveal a mutation known as CDH1. This mutation is associated with hereditary diffuse gastric cancer syndrome, which is known to increase the risk of stomach cancer along with breast cancer in women.

When there is a family history of stomach cancer:

• Women with a mutated CDH1 gene have about a 30% chance of developing stomach cancer and about a 40% chance of developing breast cancer over their lifetime.
• Men with a mutated CDH1 gene have about a 40% chance of developing stomach cancer over their lifetime.

The chance of stomach cancer in a person with a mutated CDH1 gene and no family history of stomach cancer isn’t clear.

Read more about the CDH1 gene mutation at EVIQ

CHEK2 is a “moderate risk” cancer predisposition gene. Women with certain mutations in the CHEK2 gene have an increased lifetime risk of breast cancer. These moderate risk genes work with other genetic variants and environmental factors, so the cancer risk isn’t as clear as for higher risk genes. 

• Most women with a faulty CHEK2 gene have between 20% and 30% chance of developing breast cancer over their lifetime. The chance of developing breast cancer may be lower than 20% or higher than 30% for some women, if they have close relatives with breast cancer. 
• Your cancer risk may be different depending on the specific CHEK2 mutation you have. Most CHEK2 mutations increase your risk for breast cancer.
• Some CHEK2 mutations slightly increase mens risk for colorectal (colon and rectal) and prostate cancer.

Read more about the CHEK2 gene mutation at EVIQ

PTEN is a tumour protection gene that helps to protect against benign and malignant tumours. When a person has a mutated PTEN gene, they’re known to have Cowden Syndrome which is part of the PTEN Hamartoma syndrome.

• Women with PTEN Hamartoma syndrome have a greater than 30% chance of developing breast cancer and a greater than 10% chance of developing uterine cancer over their lifetime.
• Men and women with PTEN Hamartoma syndrome have a greater than 10% chance of developing thyroid cancer and at least a 10% chance of developing kidney cancer over their lifetime.
• People with PTEN Hamartoma syndrome also have an increased chance of developing bowel polyps and benign growths in the thyroid, breast, uterus, skin, mouth and brain.
• Children with PTEN Hamartoma syndrome may have an increased chance of autism.

Read more about the PTEN gene mutation at EVIQ

Li-Fraumeni syndrome is a rare hereditary cancer syndrome associated with inherited mutations in the TP53 gene, sometimes referred to as P53. Li-Fraumeni syndrome is associated with several different young-onset cancers. People with traditional Li-Fraumeni syndrome have up to a 95% risk of developing cancer by age 60 and are also at risk for developing various different cancers over their lifetimes.

• Women with a mutated TP53 gene have about an 85% chance of developing breast cancer over their lifetime.
• Children with a mutated TP53 gene have an increased chance of developing soft tissue sarcoma, bone sarcoma, brain cancer, cancer of the adrenal gland, leukaemia, Wilms tumour, neuroblastoma, lung, bowel, stomach and pancreatic cancer before age 20 years.
• Men and women with a mutated TP53 gene have an increased risk of developing soft tissue sarcoma, bone sarcoma, brain cancer, bowel cancer, gastric (stomach) cancer and cancer of the adrenal gland, lung, prostate, kidney, pancreas and melanoma over their lifetime.

Read more about Li-Fraumeni Syndrome at EVIQ

Lynch syndrome (also sometimes called hereditary nonpolyposis colorectal cancer, or HNPCC) is hereditary and affects 1 in 500-1,000 people.

Inherited mutations in the MLH1, MSH2, MSH6, PMS2 genes, or certain mutations in the EPCAM gene are associated with Lynch syndrome.

• Women and men with Lynch syndrome can also be at a higher risk of developing bowel cancer or stomach cancer. 
• Women with a mutated MLH1 gene have about a 35% chance of developing endometrial cancer and a 10% chance of developing ovarian cancer over their lifetime.
• Women with a mutated MSH2 gene have about a 15% chance of developing ovarian cancer over their lifetime.
• Women with a mutated MSH6 gene have a slightly increased chance of developing ovarian cancer over their lifetime.
• Women with Lynch Syndrome can also be at higher risk for developing uterine cancer.

Read more about Lynch syndrome at EVIQ

Genetic testing is when your genes are tested in a laboratory for mutations which may increase your risk of medical problems, including cancer. Generally, you will be assessed by a Genetic Counsellor at a clinic or hospital and given pre and post testing counselling. The test itself is a blood test and often requires a second one if a gene mutation is found.

There are two types of genetic testing: diagnostic and predictive testing (sometimes called cascade testing). Genetic testing can sometimes help a person with cancer to be able to access more personalised treatment. For people without cancer, genetic testing can see if a person carries a gene mutation that may impact their health.

Diagnostic testing

Diagnostic testing is used to try and identify a genetic mutation in a gene that is associated with causing an increased risk of cancer. In most cases, this type of testing is done on the person who has been affected by a relevant cancer. 

Doing genetic testing this way increases the chance of finding a gene mutation. At times, cancer patients can access more targeted treatment options if a gene mutation is found, and it also helps in clarifying the risk of cancer and options for gene testing for other relatives.

Genetic testing for known hereditary cancer genes is usually ordered by a Family Cancer Clinic (FCC) and is done via a blood sample. The test result can take a few months (sometimes longer) to become available. In some situations, the doctor can request the results be fast-tracked and this is usually done where a treatment decision is dependent on the results.

Predictive testing

Predictive testing is a type of gene testing that determines whether you have inherited a gene mutation that is already known to be present in your family. 

If you have inherited the gene mutation, you will be considered at an increased risk of specific cancers, and you should be informed about how to manage your risk.  

If you haven’t inherited the gene mutation, you will usually have the same risk as the general population risk (which is not zero but is usually considered low). This also means there is no risk of passing that particular gene mutation onto your children. 

Hereditary cancer gene mutations can be passed down from either a mother or a father. There is a 1 in 2 chance your children (each embryo) will have inherited the same gene mutation. So, it is important to talk about hereditary cancer risk in both women and men.

A genetic counsellor has specialist knowledge in human genetics, counselling and health communication skills.

A genetic counsellor can provide information to you and your family about genetic health conditions (including gene mutations), who in the family may be affected and the intricacies of genetic testing. They can also provide emotional and practical support to help you adjust to living with, or being at risk of, cancer.

A genetic counsellor’s role is to provide information and support to you and your family and help you:

• Investigate your family health history
• Learn about genetic testing and understand the results of testing
• Learn about and adjust to the knowledge of being at increased cancer risk
• Learn about ways to manage an increased cancer risk
• Support decision-making regarding ways to manage an increased cancer risk, and
• Talk about genetic risk information with family members.

Genetic counsellors can work in hospitals, community health centres and specialist clinics.

In Australia, genetic counsellors are registered with the Human Genetics Society of Australasia and you can find a service via their website.

Interpreting a genetic test result is complicated. You should have your test results explained by an appropriately trained medical or genetics specialist.

Factors such as whether there is a family history of cancer, whether a hereditary gene mutation is already known to be present in a family; and whether the person having a test has been affected by cancer or not, are important when interpreting the meaning of a genetic test result.

Genetic testing can be used to help predict or assess a person’s risk of a health issue (such as cancer) however, it is not useful for everyone.

Genetic testing may be able to identify a mutation in a hereditary gene that is related to a specific cancer. Some people with a gene mutation will also have a family history of cancer, but some people will not.

Family cancer clinics in Australia use sophisticated statistical algorithms to determine the chance that a specific family history of cancer is due to a known hereditary gene.

The cost of genetic testing varies a lot.

For some families, the cost of genetic testing is covered by Medicare (publicly funded). Your family must first meet the criteria for a referral to a Genetic Service which will then assess your eligibility for publicly funded genetic testing.

Genetic testing usually starts by testing someone who has been affected by cancer, as this optimises the chance of finding a gene mutation. Testing someone who has been affected by cancer also helps interpret the options for genetic testing and what the cancer risks are for other relatives.

Where publicly funded genetic testing is not offered, this is usually because there is a less than 10% chance the person will have a gene mutation. Tests ordered privately or online are not covered by Medicare.

For publicly funded testing, visit your GP and ask for a referral to a Genetic Service where they can do an assessment if you meet eligibility criteria.

In some situations, you may wish to pay for your genetic testing. Inherited Cancers Australia recommends that you speak to your general practitioner (GP) or your local Genetic Service before paying for genetic testing, so you understand the limitations of genetic testing in your particular situation.

The cost of testing starts from $500 depending on the type of test performed. There are no private health insurance rebates available for genetic testing in Australia.

For private testing, visit the Human Genetics Society of Australia for information on what clinical genetic services are available in your area.

Genetic testing can have an impact on the ability to obtain certain types of insurance in Australia, although private health insurance is not affected.

The impact of genetic testing on insurance is a complex topic to understand. A Genetic Service will discuss this with you before genetic testing. Head to our Resources Centre for more information about Insurance.

Tumour testing can provide information that informs the choices of treatment that can be used at the time of diagnosis and if the cancer comes back.

If you have been newly diagnosed with cancer, it is important to know whether you have a hereditary or non-hereditary gene mutation inside your tumour. This information will identify whether you may be eligible for treatment with certain precision medicines or targeted treatments for your specific tumour type.

If you have a hereditary gene mutation in your BRCA1 or BRCA2 genes, or other genes such as RAD51C, RAD51D, BRIP1, PALB2, MLH1, MSH2, MSH6, PMS2, your blood (biological) relatives may also have them. A blood test will confirm if they have the same gene mutation. This is important because people who have gene mutations need to manage and reduce their risk of cancer.

There are currently two methods of testing for gene mutations that cause cancer:

1. Germline testing – Undertaken on blood samples to detect inherited disease-causing gene mutations. Results can have implications for family members and a cancer patient.
2. Tumour testing – Involves extracting DNA from a small piece of the tumour and testing it for disease-causing gene mutation or somatic mutations. A newer test called ctDNA or liquid biopsy is sometimes used and involves a blood test rather than testing the actual tumour in the person.

Approximately two-thirds of mutations detected in tumours are inherited and nearly one-third are non-inherited mutations.

If you have been diagnosed with cancer and your specialist team has recommended treatment with chemotherapy before surgery (neoadjuvant chemotherapy), it is preferable to have a ‘core biopsy’ taken for tumour genetic testing before your treatment starts. This will not delay you starting chemotherapy.

A core biopsy involves a small piece of tumour being removed from your body under local anaesthetic while a CT scan is simultaneously performed to guide the biopsy needle.

If surgery is at the start of your treatment (primary surgery) before chemotherapy, tumour tissue can be collected during your surgery and sent for tumour testing after surgery.

Tumour tests are not recommended for all types of cancer. Ask your oncologist whether you are eligible to have a tumour test to confirm your tumour type and determine your treatment options.

Download our Tumour Test Checklist for a list of helpful questions to ask your doctor.

Biomarkers are an indicator of a particular biological condition. Sometimes biomarkers are hereditary.

An example of a hereditary biomarker is the BRCA1 gene or BRCA2 gene mutations.

An example of a non-hereditary biomarker is ‘somatic’ gene mutations, which are mutations and disease-causing gene variants that arise spontaneously in a tumour as it grows. These are not inherited from a parent and cannot be passed on to a child. These mutations occur only in the tumour and not elsewhere in the body.

Somatic (‘tumour only’) mutations can also occur in the BRCA1 gene and BRCA2 gene.