WHAT IS GENETIC TESTING? WHY IS IT IMPORTANT?
About genetic testing
Genetic testingTests that help determine whether a person has inherited or acquired gene mutations. is a way to identify differences or changes in your DNA, some of which may be relevant to your ovarian cancer diagnosis.
For people who have not been diagnosed with cancer, it can help them understand their risk for certain cancers, make medical decisions, and take steps to help lower their cancer risk or detect cancer early.
For people already diagnosed with cancer, genetic testing can help them make medical decisions with their doctor about how to treat their cancer.
About 1 out of every 6 women diagnosed with ovarian cancer have a hereditary form, which is attributed to changes in genes that can be passed along the generations.
Knowing your mutation status for genes that have been linked to certain cancers can:
- Help you and your doctor make treatment decisions
- Help your family and relatives understand their risk for certain cancers
BRCA mutations
One type of mutation testing is for BRCA1 and BRCA2, which are genes that produce proteins that help fix damaged DNA. If a BRCA gene has a mutation, the proteins they make may not work properly.
BRCA gene mutations can increase the risk for developing certain cancers, such as breast, ovarian, fallopian tube, primary peritoneal, prostate, and pancreatic cancers (although the risk increase in pancreatic cancer is low).
There are two main types of BRCA mutations:
- GermlineAlso called a hereditary mutation, can be shared by family members and passed along from one generation to another. (or hereditary) BRCA mutations can be passed along the generations
- SomaticAlso called non-hereditary or acquired mutation, is captured through tumour testing. It sometimes occurs due to environmental or lifestyle factors. (or non-hereditary) BRCA mutations are not found in every cell in the body, and they are not passed from parent to child
NOW IS THE TIME TO TALK TO YOUR DOCTOR ABOUT
A GENETIC TEST FOR BRCA MUTATIONS
Not a real patient.
UNDERSTAND THE DIFFERENCES BETWEEN GERMLINE AND SOMATIC MUTATIONS
IN A STUDY OF WOMEN WITH INVASIVE EPITHELIAL OVARIAN CANCER*, 
WERE POSITIVE FOR GERMLINE BRCA MUTATIONS
* Most common type of ovarian cancer.
ASK YOUR DOCTOR IF A GENETIC TEST CAN HELP GUIDE YOUR
PERSONALIZED CARE PLAN
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YOUR TREATMENT PLAN MAY INCLUDE:
SURGERY
Surgery may be a part of your diagnosis and treatment plan for ovarian cancer. The timing and the type of surgery will depend on the stage of your disease. Surgery can help stage the cancer (see how far it has spread from the ovary), remove tumour bulk, and determine the extent of the disease.
TESTING
Your doctor might recommend some laboratory tests to identify specific gene mutations, and to see how much of certain biomarkersBiomarkers can be certain proteins that have occurred in response to cancer and changes in DNA. They can be measured in your blood or tissue biopsies. and tumour markers Some tumours make large amounts of certain proteins that can be measured in your blood or tissue. Tumour marker levels may also be monitored during your treatment. may be present in your tumour tissues and/or blood.
TREATMENT
Your doctor will develop a personalized care plan based on all your test results, which could include chemotherapyRefers to drug treatments that kill fast-growing cells, such as cancer cells. , hormonal therapyAlso called endocrine therapy, is used to block the action of certain hormones to slow the growth of cancer. , targeted therapyType of cancer treatment that targets proteins that control how cancer cells grow, divide, and spread. , and radiation therapyRadiation therapy uses focused energy waves to kill cancer cells. It may be used to treat small areas of cancer that has come back or spread and to control symptoms of ovarian cancer..
YOUR BRCA STATUS AND OTHER MUTATIONAL STATUS MAY BE IMPORTANT IN YOUR JOURNEY
A genetic test for BRCA and other mutations may help guide your doctor when developing a personalized care plan.
WHAT TYPES OF TESTS CAN FIND BRCA MUTATIONS?
Your doctor might order one of the following types of genetic tests:
GERMLINE BLOOD TEST
This test uses blood (or saliva) to look for hereditary mutations in the BRCA1 and BRCA2 genes.
TUMOUR TISSUE TEST
This test uses tissue from your tumour to look for mutations in the BRCA1 and BRCA2 genes. A portion of your tumour might be sent for genetic testing following your surgery. Since mutations found in a tumour could be either hereditary or non-hereditary, it’s important to consider having a germline blood test to see if the mutation is hereditary or not.
UNDERSTANDING YOUR TEST RESULTS
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Your genetic test may give you one of three possible results:
- A positive result means that a harmful mutation of your gene was detected during the test. The result also has implications for the men and women in your family. All blood relatives are at an increased risk of having the harmful mutation too.
- A negative result can have several meanings. If a harmful mutation has already been identified in your family, then a negative test result would mean that the harmful mutation was not found in your sample. But, if your family’s mutation status is not known, then the negative result is uninformative. This is because there could be a mutation that causes cancer which was not included in the test, or the mutation could be non-hereditary. You should ask your doctor about a tumour test for non-hereditary (somatic) mutations if your germline genetic test results are negative.
- The result called “variant of uncertain significance” (VUS) is used when a mutation in your gene is found, but it is not clear if the mutation can increase your risk for cancer. A genetic counsellor can help you better understand the test results. For more information about the services that a genetic counsellor can provide, please visit the Canadian Association of Genetic Counsellors.
The Society of Gynecologic Oncology of Canada recommends that all women with high-grade serous ovarian cancer (the subtype commonly associated with BRCA gene mutations) should know their BRCA gene mutation status.
ASK YOUR DOCTOR
IF YOU SHOULD
HAVE A GENETIC TEST.
DO IT FOR YOURSELF. DO IT FOR YOUR LOVED ONES.
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FREQUENTLY ASKED QUESTIONS
Why should I have a genetic test for BRCA and other mutations?
Testing for BRCA and other mutations can show how your tumour may respond to certain treatments and could be helpful in guiding medical decisions. Knowing your status of germline BRCA mutations may help your family members understand their risk for future cancers.
How soon after my diagnosis should I have a genetic test for BRCA and other mutations?
You should talk to your doctor about getting tested as soon after your diagnosis as possible. For some patients, genetic testing is done before treatment to aid in planning. A genetic test for BRCA or other mutations may increase your personalized care plan options and help you and your doctor make decisions.
Is my BRCA mutation status important?
Yes, absolutely. It’s important for women with ovarian cancer to know their BRCA and other mutation status as it can help determine if they are eligible for certain treatments. Knowing your status of germline BRCA mutations may help your family members understand their risk for future cancers.
What happens if my tumour test for somatic BRCA mutations does not find a mutation?
If your tumour test is negative for BRCA mutations, you should consider having a genetic test for other genes linked to ovarian cancer susceptibility.
What is a genetic counsellor?
A genetic counsellor is a medical professional with specialized training to help you understand the pros and cons of having a genetic test and explain what the changes in your DNA may mean for you and your family. A genetic counsellor will also discuss the privacy and antidiscrimination laws that can protect you.
How do I access a genetic counsellor?
To find a genetic counsellor in your community, you can ask your doctor for a referral. For more information about the services that a genetic counsellor can provide, please visit the Canadian Association of Genetic Counsellors.
How do I talk to my family if I have a positive test result?
It is important to share your germline test results with your family members who may be at high risk for hereditary cancer (i.e., blood relatives), so that they can take steps to protect their health. You could start by sharing how you learned about genetic testing, why you decided to get tested, and why you have decided to share your test results with them.
Do I have to pay a fee for genetic testing?
No. Genetic testing in Canada is free of charge if the test is ordered by your doctor.
GLOSSARY
Biomarkers can be genes, proteins, or other substances that can be tested for to reveal important information about a person’s cancer. They can be measured in your blood or tissue biopsies.
When a sample of tissue from the tumour that is in your body is removed for testing. In ovarian cancer, this can happen during debulking surgery, a procedure used to remove as many cancer cells as possible.
Refers to drug treatments that kill fast-growing cells, such as cancer cells.
A medical professional with specialized training to help you understand the pros and cons of having a genetic test and explain what the changes in your DNA may mean for you and your family.
Tests that help determine whether a person has inherited or acquired gene mutations.
Also called a hereditary mutation, can be shared by family members and passed along from one generation to another.
Also called endocrine therapy, is used to block the action of certain hormones to slow the growth of cancer.
Radiation therapy uses focused energy waves to kill cancer cells. It may be used to treat small areas of cancer that has come back or spread, and to control symptoms of ovarian cancer.
Also called non-hereditary or acquired mutation, is captured through tumour testing. It sometimes occurs due to environmental or lifestyle factors.
Type of cancer treatment that targets proteins that control how cancer cells grow, divide, and spread.
Some tumours make large amounts of certain proteins that can be measured in your blood or tissue. Tumour marker levels may also be monitored during your treatment.
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