Genetic Testing and Hereditary Ovarian Cancer

This guide is for people with ovarian cancer who want to know more about hereditary ovarian cancer.

Finding out you have ovarian cancer can come as a huge shock. You may feel a range of intense emotions and have lots of questions. Many people wonder what caused their cancer. They also worry it may be a hereditary cancer that other family members may get.

This booklet covers:

• what a family history means

• whether your family members are at risk

• whether you and your family should have a genetic test

• what it means if you have hereditary ovarian cancer

• where to seek further support.

We hope the information will help you make an informed decision about whether to have a genetic test.

Glossary

After a diagnosis of ovarian cancer, it may feel like you have a whole new language to learn.

Medical professionals often use unfamiliar terms. Don’t be afraid to ask them to explain any words or phrases you don’t understand. It’s important you feel sure about everything to do with your treatment and care.

Here are some of the common terms you may hear and read.

ABDOMEN

The abdomen is located between the ribs and hips. It contains the stomach, intestines, liver, gall bladder, bladder, kidneys and spleen. It also includes the uterus, fallopian tubes and ovaries. The lining of the abdominal cavity is called the peritoneum.

BILATERAL SALPINGO-OOPHORECTOMY

Surgical removal of both fallopian tubes and both ovaries.

BIOPSY

A procedure to remove a sample of tissue from the body so it can be examined under a microscope to help diagnose cancer or another disease.

CANCER

Cancer is a disease when cells in the body continue to divide uncontrollably. These cells form malignant tumours. Cancer can occur in any tissue or organ in the body. It can also spread into other parts of the body.

CELLS

The ‘building blocks’ of the body. A human is made up of billions of cells, which all have different functions. Cells can make exact copies of themselves. Damaged or abnormal cells are called cancer cells.

CHEMOTHERAPY

The use of drugs to slow the growth of or destroy cancer cells.

CLINICAL TRIAL

Research that is done with the patient’s permission. This research usually involves one or more methods of diagnosing or treating disease.

DNA (DEOXYRIBONUCLEIC ACID)

DNA contains all the instructions that tell our cells (and body) how to grow and develop. It’s also known as our genetic code.

DIAGNOSIS

Identifying and naming a disease.

EPITHELIAL OVARIAN CANCER

This is the most common type of ovarian cancer, accounting for 9 out of 10 cases.

FAMILIAL

A condition/disease that happens more often in family members than is expected by chance alone.

FAMILY (OR FAMILIAL) CANCER

When a gene variant causes higher rates of particular cancer/s within a family. These cancers often affect family members at a young age.

FAMILY OR FAMILIAL CANCER CENTRE/SERVICE

A centre where genetic counsellors can talk to you about genetic testing if you have a family history of cancer and wish to consider testing for yourself, adult children, or other family members.

GENES

Small pieces of DNA: the material that acts as a ‘master blueprint’ for all the cells in your body. Your genes determine things like what colour hair and eyes you have, and how tall you are. If you inherit specific gene variants, it may mean you have an increased risk of certain types of cancer.

GENE VARIANT (GENE MUTATION)

A change in the structure of a gene. The gene variant may be passed from parent to child during conception and can also be passed from generation to generation. It’s sometimes called a gene mutation or a pathogenic gene variant.

GENETIC

Relating to genes. A genetic condition is one caused by a variant in one or more genes that may have been inherited.

GENETIC COUNSELLOR

An allied health professional who has specialist knowledge in human genetics, counselling, and health communication. They provide information, and emotional and practical support to people living with, or at risk for, a hereditary condition.

GENETICIST

A medical doctor who is specialised in clinical genetics and managing people and families with or at risk of a hereditary condition.

GERMLINE VARIANTS

Changes to your DNA that you inherit from either one of your parents.

HEREDITARY CANCER

When the risk of a particular cancer/s runs in a family and may be passed from parent to child. Only 5 to 10% of cancers are hereditary.

HYSTERECTOMY

Surgical removal of the uterus (womb) without removal of the ovaries and tubes.

LYNCH SYNDROME (ALSO KNOWN AS HEREDITARY NON-POLYPOSISCOLORECTAL CANCER SYNDROME OR HNPCC)

A condition in some families where inherited faulty genes increase the risk of colorectal, ovarian, endometrial, renal tract and other gastrointestinal cancers.

MENOPAUSAL HORMONE THERAPY (MHT) (FORMERLY KNOWN AS HORMONE REPLACEMENT THERAPY (HRT)

Prescription medicines that supply the body with hormones that are no longer produced in the body after menopause. Used to help relieve symptoms of menopause.

OOPHORECTOMY

Surgical removal of one or both ovaries.

PROGNOSIS

An assessment of the possible future course and outcome of a person’s illness.

SOMATIC VARIANTS

Genetic changes in cells that happen after a person is born, and do not run in families.

What is ovarian cancer?

Ovarian cancer is a general term used to describe a cancerous (malignant) tumour found in one or both ovaries.

The ovaries are made up of three main kinds of cells:

• epithelial cells

• stromal cells

• germ cells

Each of these cells can develop into a different type of tumour. Epithelial ovarian cancer is the most common type of ovarian cancer.

Ovarian cancer is the ninth most commonly diagnosed cancer in Australia. Over 80% of those diagnosed are over the age of 50. The average age of people diagnosed with ovarian cancer is 64. However, younger people can get ovarian cancer. About 1,720 Australians are diagnosed with ovarian cancer each year.

Some ovarian cancers start in the fallopian tubes—the tubes linking the ovaries to the uterus. Cancer can start in these tubes and spread to the ovary. Cancer beginning in the fallopian tube is sometimes called fallopian tube cancer (FTC). It’s important to mention that fallopian tube cancers can sometimes be labelled as ovarian cancer, as both cancers are staged and treated in the same way.

Primary peritoneal cancer (PPC) is a relatively rare cancer that develops in a very similar way to epithelial ovarian cancer. People diagnosed with this type of cancer should also be offered genetic testing.

What are gene variants (mutations)?

Genes are made up of DNA. Genes act as ‘chemical instructions’ that tell our body’s cells what to do. They control our body’s growth, how we look, and how our body works. It’s estimated humans have between 20,000 and 25,000 genes. We all inherit two sets of genes—one set from each parent.

Usually, our genes allow our cells to work normally. But sometimes genes change. A change may stop that gene from working as it should. Scientists call these changes variants, alterations or mutations. Not all gene variants cause cancer. But the ones that do are also known as pathogenic variants.

Cancer usually develops because of genetic changes in cells which cause abnormal growth. These usually happen after a person is born. They are called somatic variants and happen only in the tumour cells as cancer develops. Sometimes, people will be offered genetic testing for somatic variants in their tumour tissue. Finding somatic variants may help to determine their treatment options. Tumour genetic testing can sometimes also find inherited or germline gene variants, meaning that a person’s ovarian cancer could have a hereditary cause.

Hereditary cancer is cancer that runs in families. Another term you may hear is family (or familial) cancer. This is sometimes called having a family history of cancer. The cancers in a family might be hereditary if:

• you have a strong family history, meaning two or more close relatives on the same side of the family (father’s or mother’s relatives) who have, or had cancer, diagnosed before they were 50

• you have a family member who has had genetic testing confirming they have a gene variant that causes cancer

• you have Ashkenazi Jewish ancestors (who have a higher incidence of BRCA mutations than the general population)

• your own cancer was diagnosed at an early age, or you have had more than one type of cancer

Hereditary cancer may run in a family because of an inherited gene variant. If you inherit a gene variant that causes hereditary cancer, it means you are at greater risk of developing the types of cancer linked to that gene. The type of cancer that develops is specific to the gene involved—such as breast cancer in a person who has inherited a BRCA1 gene variant. People who carry a gene variant have most often inherited it from one of their parents and have a 50% chance of passing it on to each of their children.

Cancer is a common illness, with one in two Australians developing cancer by the age of 85.

This means it’s not unusual for members of the same family to be diagnosed with different types of cancer. For example, within a family, one person may have lung cancer, another may have skin cancer, and another may have stomach cancer. While all the cancers occur in one family, the cancers are not necessarily inherited or linked.

Certain types of ovarian cancer are more likely to be caused by a gene variant. Approximately 20% of all ovarian cancers are caused by a gene variant that has been passed on from a biological parent. Ovarian cancer caused by inheriting a gene variant is called hereditary ovarian cancer.

BRCA1 or BRCA2 gene variants are involved in most cases of hereditary ovarian cancer. Inheriting a BRCA1 or BRCA2 gene variant increases your ovarian cancer risk, but does not mean you will definitely develop ovarian cancer.

BRCA1 AND BRCA2 GENES

Variants in the BRCA1 or BRCA2 gene are responsible for most cases of hereditary ovarian cancer (up to 20% of all ovarian cancers). These genes are named for their connection to breast cancer (BReast CAncer genes 1 and 2), but can also be associated with other cancers, including:

• fallopian tube

• prostate

• peritoneum

• pancreas

• breast (in both women and men)

The BRCA1 and BRCA2 genes normally help prevent cancer. However, when a person inherits a variant in either gene, the gene stops functioning properly, leaving the person less protected against breast, ovarian, prostate, and pancreatic cancers.

Compared to a less than 2% lifetime risk of ovarian cancer for the general population:

• BRCA1 gene variants cause about a 40% lifetime risk of developing ovarian cancer

• BRCA2 gene variants cause about an 18% lifetime risk of developing ovarian cancer

Many people who have a BRCA1 or BRCA2 gene variant do not have a known family history of ovarian or breast cancer. This can happen for many reasons, including:

• other family members may have inherited a gene variant but not developed ovarian or breast cancer

• there may be few females in a family, making it difficult to see a pattern of family history

• there may be very little known about a person’s family history of cancer or their relative’s genetics

Inheriting variants in any of the genes mentioned in the pie chart may increase your risk of developing other types of cancers, aside from ovarian cancer.

OTHER GENE VARIANTS

Although less common, variants in genes other than BRCA1 and BRCA2 can also increase the risk of developing ovarian cancer.

Lynch syndrome is an inherited condition that increases your risk of bowel cancer. It’s linked to variants in the MLH1, MSH2, MSH6 and PMS2 genes. People with variants in these genes have about a 3 to 17% lifetime risk of developing ovarian cancer.

People with a RAD51C or RAD51D gene variant have about a 10% lifetime risk, while people with a PALB2 gene variant have a 5% lifetime risk of developing ovarian cancer.

Other genes can cause rare types of ovarian cancer. There may also be other genes linked to ovarian cancer that have not been discovered yet. Research into other genes and their link to ovarian cancer is ongoing.

Not everyone who inherits a gene variant will develop cancer—but it does increase the risk.

A clinical geneticist or a genetic counsellor can give you an accurate and individual assessment of your risk of developing cancer. You can find a genetic counsellor or geneticist at a family cancer centre.

SHOULD I FIND OUT IF MY OVARIAN CANCER IS HEREDITARY?

Thinking about whether your ovarian cancer could be hereditary can be confronting, especially if your diagnosis is recent. Being diagnosed with ovarian cancer is usually a shock, so having to think about whether you carry a genetic cause can be a lot to handle.

There are several reasons it can be important to find out if your ovarian cancer is hereditary. For example:

• it may influence your treatment options for ovarian cancer

• it may mean other family members are at an increased risk of ovarian, breast, and other cancers, and need to access options to reduce their risk

• some hereditary ovarian cancers also increase your own risk of other cancers

If I could tell someone else going through this one thing, it would be to not hold back. Always advocate for yourself and consider genetic testing at the earliest possible point after diagnosis.

Who should have genetic testing for ovarian cancer?

Anyone diagnosed with invasive epithelial ovarian cancer, as well as those with fallopian tube or primary peritoneal cancer, should consider genetic testing—whatever their age or family history. They may carry a gene variant, even if they don’t have any family history of ovarian cancer.

If you have been diagnosed and have not been offered genetic testing, you should ask your specialist about it.

Both my Mum and her twin sister had breast cancer in their early 50s, but they were treated, and everything was okay. My gran died of pancreatic cancer, as did my uncle. It wasn’t until my aunty developed ovarian cancer when she was in her 50s that the BRCA gene was picked up. Soon after this, my mother was also diagnosed with ovarian cancer.

Different types of genetic testing for ovarian cancer

SOMATIC GENETIC TESTING

Most cancers happen because of genetic changes that occur as a tumour develops. These changes are called somatic variants. They start in a single cell and do not run in families. Somatic testing is usually done on tumour tissue and looks for these types of changes. Understanding somatic changes can help to explain how a cancer started, or how it is behaving. This can be important for treatment choices. Sometimes, somatic testing can find a variant in a tumour that may be hereditary, but most are not.

As a result of the genomic testing, I now have the information for the ‘possibility’ of a drug, as my oncologist says, ‘down the track’.

GERMLINE/HEREDITARY GENETIC TESTING

Germline genetic testing is when a blood or saliva sample is tested for gene variants that run in families. If a person inherits a gene variant from one of their parents, they will have that variant in all the cells in their body. Finding a pathogenic (disease-causing) gene variant means that other people in the family (blood relatives) should also have testing. This can help clarify their risk of ovarian and other cancer, as well as their options to reduce their risk.

What does ovarian cancer genetic testing involve?

You may have genetic testing through your cancer specialists (gynaecological oncologist or medical oncologist). Your doctor may also refer you to a genetic counsellor, who is a healthcare professional experienced in cancer genetics.

They should review your family history, and discuss:

• the specific tests available to you

• the accuracy of these tests (i.e. what they will and won’t tell you)

• the pros and cons of genetic testing

• what a positive or a negative test result may mean for your medical treatment

• what a positive or a negative test result may mean for your family

• how genetic test results can affect you emotionally and psychologically

• the risk of passing on the gene variant if you have children

A genetic counsellor can help you decide whether to have hereditary genetic testing or not. They can also help you understand what testing and the results may mean for you and your family members.

How testing may impact you and your family

Thinking about having an ovarian cancer genetic test can bring up strong emotions. Some people find it helpful to know why they developed ovarian cancer. Some people say they feel uncertain about having the test. They can be anxious about the possible impact the results will have on themselves, family, and others close to them. It’s also common for people

to feel afraid and guilty, as they worry about passing the gene variant on to their family members. All these feelings are normal.

There are two kinds of genetic tests: somatic and hereditary.

Somatic genetic test results are usually only related to the tumour being tested. Sometimes the somatic test result suggests a possible hereditary cause. In this case, your doctor may refer you to a genetic service for hereditary genetic testing.

Hereditary genetic test results may also impact your family, and cause concern about hereditary cancer. Genetic testing can help clarify their risks, and whether they need any extra screening or prevention, or help them feel reassured if the test shows they don’t have a gene variant.

Unfortunately, there is no reliable method of screening for ovarian cancer. People with a high risk of ovarian cancer are recommended to have risk-reducing surgery.

Because other family members may inherit a gene variant, it can be helpful to discuss hereditary genetic testing with your relatives at an early stage. If you have a gene variant, other family members may also have it. Depending on the side of the family affected by the gene variant, this may include first-degree relatives, such as your mother, father, or siblings, as well as your aunts, uncles, and cousins. People with a parent who has a gene variant will have a 50% chance of inheriting this variant, and are at an increased risk of developing certain types of cancers.

We discuss talking to your family about a hereditary genetic test result and what it means for them later in this booklet.

If it wasn’t for my Teal Support Nurse Di, ensuring that I had all the right information and support, I would not have been able to advocate for myself to receive genetic testing and ultimately open myself up to different treatment opportunities as a result.

When should I have genetic testing?

When you have a genetic test done is up to you. Everyone is different, and you need to approach this in a way that works for you. Some people may have it done at the time of diagnosis to help their treating team determine the best treatment for them. Others might wait a while. Some people have DNA stored (from a blood sample) so that it’s available for hereditary genetic testing later. It’s okay to allow yourself time to think about having the test, and gather as much information as you need to make an informed decision.

When I found out I could possibly carry the faulty gene, I put my hand up immediately to have the test.

My pragmatic Mum decided to get tested when she was first diagnosed. This enabled me to also get tested to assess my risk. I then had time to think about what I needed to do to reduce my risk and do it when I was ready.

People who don’t have ovarian cancer but are worried about their family history are encouraged to speak with a genetic counsellor to clarify their risks and options.

Getting your results

You may have a choice of how you’d like to receive the results. This could be by phone or in writing, or at an appointment to explain the result and what the next steps are.

If you have a hereditary gene variant associated with a higher risk of ovarian cancer, you should see a genetic counsellor. They are likely to suggest that other family members consider genetic testing. If other family members have inherited the gene variant, a gynaecological oncologist can advise how to reduce their risk.

I took my results as a phone call and although I had a very strong feeling my result would be positive, actually hearing it was a very different thing. For a couple of months after this, I was very low. I cried a lot, but then I also knew I could now take control and do whatever I could to reduce my risk. Not knowing felt like putting your head in the sand for me.

Where can I have genetic testing?

If you decide to undergo genetic testing, your treating specialist may organise it for you. They may also refer you to a family cancer centre or cancer genetic service. These are public services which provide genetic counselling, information on inheriting cancer, individual risk, screening, cancer prevention, and genetic testing where appropriate. Some private genetic services in Australia offer genetic testing and counselling, although you are likely to have some out-of- pocket expenses.

The familial cancer team that performed my genetic testing were wonderful. They sat down with me and explained everything.

I thank my lucky stars every day I was given the opportunity to be tested and find out I was BRCA positive when I did. Being proactive, and an enormous dollop of luck, has given me and my family outcomes that have been advantageous to us. I will always support women who choose to have genetic testing, as it can have enormous benefits and save your life.

Possible results of hereditary genetic testing

There are three possible results for hereditary genetic testing:

• mutation not identified (sometimes called a ‘negative’ or ‘inconclusive’ result*): testing has not found a pathogenic (disease-causing) gene variant

• variant of unknown significance (VUS) (sometimes called an ‘inconclusive’ result): testing has found a change in the gene, but it’s uncertain whether this gene change causes an increased cancer risk or not

• mutation present (sometimes called a ‘positive’ result): testing has found a pathogenic variant that causes a significant change to the gene, which is likely to be the cause of your cancer

*The term ‘inconclusive result’ may sound confusing. It means that testing has not found a pathogenic variant known to increase cancer risk. Sometimes an inconclusive result may be reported as ‘no pathogenic variant’.

What do the different results mean for my family and me?

NO PATHOGENIC VARIANT/MUTATION FOUND (NEGATIVE RESULT)

Finding out your cancer is not hereditary/genetic often brings a sense of relief and reassurance.

If a gene variant is not found, and you don’t have a family history of ovarian or breast cancer, it’s most likely your ovarian cancer has happened by chance. It means your risk, and the risk to any children you may have, of developing breast cancer and other cancers is likely to be the same as the general population.

If you receive this result but have a strong family history of ovarian or breast cancer, you may feel confused. Scientists are still identifying all the different genes that may influence a person’s risk of ovarian cancer. It’s possible you have a variant in a different gene that is not yet known and therefore cannot be found using current tests. This means there may still be some uncertainty, even after genetic testing. A genetic counsellor will be able to provide more information and support if you need it.

CAN MY FAMILY MEMBERS STILL HAVE A GENETIC TEST?

If your test doesn’t find a hereditary gene variant responsible for your cancer, your family members don’t need to have a genetic test.

If you have a strong family history of cancer, even if you don’t carry a gene variant, your close relatives may still need advice about reducing their risk.

VARIANT OF UNKNOWN SIGNIFICANCE (VUS) (UNCERTAIN RESULT)

If your result comes back showing a genetic variant of unknown significance (VUS), this means the result is unclear. It means you have a gene variant, but it’s not known if this variant causes an increased risk of ovarian cancer or not. This can be confusing to hear.

However, fewer people are receiving this result, as scientists are learning more about the different gene variants that increase cancer risk.

In time, further information about the VUS may be discovered. If you’ve received a VUS result, it’s recommended you contact a genetic counsellor every one to two years to see if any further information about the VUS has become available.

CAN MY FAMILY MEMBERS STILL HAVE A GENETIC TEST?

If you receive a VUS result, testing will not help to clarify risks or management for your relatives. However, based on family history, family members may still like to get advice about reducing their risk of developing cancer.

In some cases, more testing may need to be done to try to clarify the significance of the VUS, which may include other people in the family who have had cancer.

Getting a VUS result can cause uncertainty for a family, as it’s less clear whether you or your family have an increased risk for cancer. This can be difficult to cope with, and many people need further support. Talk with your doctor or genetic counsellor if you need more information.

PATHOGENIC VARIANT/MUTATION FOUND (POSITIVE RESULT)

A positive result means a hereditary gene variant has been found that is known to be disease-causing.

The result will influence:

• your risk of developing other types of cancers

• the risk of your family members developing cancer

• the type of treatment you may have

A genetic counsellor can explain the impact of your result and offer you support on how to deal with this. Your medical team will guide you about the type of treatment that is best for you.

Genetic testing has given me an opportunity I would not have otherwise had. It changed my narrative (story) and I will always be grateful for that.

HOW MIGHT I FEEL?

You may experience many feelings and reactions if you find out you have a hereditary gene variant that caused your cancer, or may cause cancer in the future. You may feel shocked, angry, and upset. Being given a cancer diagnosis, and finding out your cancer is hereditary, can be hard to accept. Some people say it feels like they have been diagnosed all over again, as they now know they may get another cancer in the future, and/or that a family member may develop cancer. This can sometimes be the hardest part to deal with. Feeling anxious about what this means for you and your close family is very natural.

You may also feel a sense of relief, as you now have an explanation for your diagnosis and/ or the cancers in your family. This too is normal.

Some people feel guilty, and this is also a normal reaction. Feeling responsible for possibly passing the gene variant on if you have children or grandchildren can be very difficult. But it’s important to remember you can’t control what you inherit from your parents or pass on to your children. You are not to blame.

With time, most people adjust to finding out they carry a hereditary gene variant. While it may not change their own diagnosis and possible outcomes, they can feel empowered to be able to pass on important information to their family members. It also allows their family to make their own choices about genetic testing.

Mum certainly didn’t pressure my sister and I to have the tests, and the first thing she said to us when she found out about her result was, ‘I am so sorry darling’.

It is not your fault if you pass this gene on to your children, and if you do, then we will deal with it as things happen.

I knew it wasn’t Mum’s fault I had the inherited gene, and I didn’t want her to feel it was either.

TELLING YOUR FAMILY ABOUT HEREDITARY GENETIC TESTING

Telling your family you’re having a test to find out if your cancer is hereditary can be hard. You may be especially worried about young family members. This is normal, and many people feel the same.

Confiding in a partner or someone close to you can help ease anxiety. You can also get support from your medical team, a mental health professional, or a genetic counsellor if you need it.

Your family are likely to wonder whether your cancer diagnosis means they are at an increased risk of cancer. They may also want to understand their risk. Most people will be grateful to know they have the choice of finding out more about testing. They can allow them to make their own decisions about managing their risk through additional screening or surgical options.

Your relatives may feel anxious about finding out if they have an increased risk of cancer. Some may have concerns about how this might impact aspects of their life such as their work, insurance, and personal relationships. They may also be reluctant to have the test, which is understandable. While you may want your relatives to be tested, it’s ultimately their decision.

HOW WILL MY RESULT AFFECT FAMILY MEMBERS?

If you have a positive result, this means your adult family members (age 18 and over) will be able to have a test to see if they have the same hereditary gene variant. This is called a predictive test.

If you test positive:

• your siblings and children will have a 50% chance of carrying the gene variant

• you most likely inherited the gene variant from either your mother or father. If they did not already know about their genetic status, they may want to seek advice about testing to clarify which side of the family it has come from, as well as their siblings, nieces, and nephews (your aunts, uncles, and cousins)

Anyone who inherits a gene variant can pass it on to their children, even if they never have cancer themselves.

A positive predictive test result means the person has an increased chance of developing cancer, but it doesn’t mean they have cancer, or that they are definitely going to get it.

Predictive genetic testing is generally only available to adults (people over the age of 18). If you’re worried about younger children, talk to your doctor or a genetic counsellor.

It’s important to understand the implications of having a genetic test and to make an informed choice about having it.

I found out I had the BRCA gene, and so did one of my daughters—she carried both gene variants. She had surgery and is thinking about having a double mastectomy. It has affected her a lot mentally, and she has suffered a lot of anxiety since.

HOW WILL MY FAMILY FEEL?

Everyone is different. Your relatives may have mixed responses when you tell them you have had genetic testing, and that they may carry the gene variant.

Most of the time, family members are thankful to receive information about hereditary cancer, as it allows them to make informed decisions about their health. However, they may also experience different emotions if they have lost someone important to cancer. It is common for them to have questions, so be prepared. If there is anything you’re not sure of, you can suggest you find out together.

Some people say their relatives didn’t want to know their results. Others may be reluctant to have genetic testing. This can be challenging and upsetting. If this happens, your family member can speak to a genetic counsellor to find out their risk and options for testing, if they like.

Ultimately, the decision to have predictive genetic testing is up to each member of your family.

Even if they choose not to undergo testing, you will have given them an option that may not otherwise have been available.

Reducing the risk of cancer for people with ovarian cancer who carry a hereditary gene variant

If you’re told you have a hereditary gene variant, a genetic counsellor can discuss your risk of other cancers and ways you can reduce your risk.

What you decide to do will depend on your current health status, and what stage your ovarian cancer is. It’s important to discuss your result with your specialist doctor, who will explain how it will affect you, including monitoring for any future cancers.

To reduce the risk of developing cancer, there may be several options to think about, including:

• regular screening

• risk-reducing surgery

• drug treatment

• lifestyle choices

Your specialist cancer team can advise the best approach for you, based on your test results.

I tested positive for the BRCA1 gene fault and immediately made the decision to have
a bilateral salpingo-oophorectomy (BSO) to decrease the risk of future ovarian cancer. During this operation, it was found I already had early ovarian cancer, which was a huge shock for me. I had to have three-and-a-half months of chemotherapy after the operation. Shortly after chemotherapy finished, I made the decision to have a prophylactic bilateral mastectomy with reconstruction. The surgery went smoothly with no surgical complications. I did feel quite low after that final operation, as there had been so much to face during the previous six months. But I knew I had to do the surgery as I could never live with the fear, and risk, of getting breast cancer after having been given an ovarian cancer diagnosis.

There are several drugs in use and in development that target cancers with BRCA gene variants.

Ask your specialist doctor about the results of your genetic test and how this will affect your treatment. You may be eligible to have treatment with poly-ADP ribose polymerase (PARP) inhibitors, or take part in a clinical trial. This may apply to somatic or hereditary/ germline genetic test results.

PARP inhibitors

PARP is a protein in our body that helps damaged cells mend themselves. Cancer cells
with altered BRCA genes depend on PARP to keep their DNA repair mechanisms working. PARP inhibitors stop PARP from working, meaning the cancer cells can’t mend themselves. Clinical trials have shown that PARP inhibitors can reduce the risk of ovarian cancer getting worse and improve survival in some cases.

There are several PARP inhibitors at different stages of development and research. Some PARP inhibitors have been approved for use in Australia in specific circumstances for people with ovarian cancer linked to BRCA1 and BRCA2 gene variants.

Guidelines for the use of treatments are regularly developed and revised as new evidence becomes available.

Talk with your oncology team about the latest clinical trials and treatments, and ask your specialist doctor about your eligibility for PARP inhibitors.

Platinum-based chemotherapy drugs

Research shows that people with ovarian cancer who carry a BRCA gene variant may respond well to platinum-based chemotherapy. Chemotherapies are drugs used to help destroy cancer cells. Platinum chemotherapy uses platinum-based drugs to fight several types of cancer. It can have less severe side effects than other chemotherapy drugs.

Your specialist will be able to tell you whether platinum-based drugs are the best choice of treatment for you.

Participation in clinical trials

Treatment for ovarian cancer is constantly being improved through clinical trials. In clinical trials, new treatments are developed, evaluated, and compared with current treatments. Participating in a clinical trial may provide some people with a better outcome from ovarian cancer. Trial participation may also benefit other people, who eventually receive the treatment being trialled.

Your doctor might suggest you take part in a clinical trial or ask if there is a trial you can be part of. Not every person will be eligible for all trials: you will need to meet specific criteria. If you’re interested in clinical trials, speak with your healthcare team and the people close to you.

It’s also important to remember that you don’t have to take part in a clinical trial if you don’t want to. The decision is yours.

The following websites have more information about research on PARP inhibitors and clinical trials in Australia:

It’s normal to be concerned about the cost of genetic testing and counselling.

Family cancer centres offer counselling and genetic testing for people with hereditary cancer risk. As they are run through the public hospital system, there is no direct cost to you. Your GP or specialist doctor can refer you to a family cancer centre near you.

There are also several private genetic services in Australia. However, there are likely to cause out-of-pocket expenses, as not all tests are covered by Medicare. You can find a list of public and private services at www.hgsa.org.au.

Medicare funds some genetic testing for people with breast or ovarian cancer who have
a high probability of having a gene variant. The test is also funded for relevant family members of people who have a gene variant. Genetic testing for other faulty genes may not be covered by Medicare.

Ask your doctor or genetic counsellor how much tests will cost, and how much will be covered by Medicare. Genetic tests ordered online are not covered by Medicare, and not all are reliable. It’s important to have a healthcare provider involved in any genetic testing to help you understand the test and make use of the results.

Can’t I just order my genetic test online?

Direct-to-consumer (DTC) genetic tests are usually purchased online and deliver results over the internet, without the involvement of your doctor or a healthcare provider. This kind of testing can have limitations and risks. Before deciding on a test, it’s important to have all of the information. You may wish to consider:

• will this test answer my questions?

• will it tell me something I don’t want to know?

• will this test have implications for my insurance?

• will my results be private? Who will have access to my genetic information?

  You can find out more from:

Insurance

Genetic testing does not affect any insurance policies you already have in place, but it may affect new applications or changes to insurance policies.

In the past, having a positive genetic test result may have affected taking out certain insurance policies. However, in July 2019, the Financial Services Council implemented a moratorium (a temporary ban) on the need to disclose genetic test results when applying for life insurance products. This applies to various policies of differing coverage. The moratorium is in place until at least 30 June 2024, pending a review.

Genetic testing does not affect your eligibility for private health insurance in Australia.

However, if you have been diagnosed with ovarian cancer, your ability to take out some new insurance policies may still be affected. You will need to discuss this with the insurance company. More information is available at:

The internet has an enormous amount of information about ovarian cancer, genetic testing, and hereditary cancer. Online information is not a substitute for information from your doctor and other members of your healthcare team.

Not all information online is accurate or will be suitable for you. While there are some excellent websites, some sites provide wrong or biased information. If you want to look online, focus on websites from reputable cancer organisations and universities. Look in the next section for links to further information and support, or call our helpline on 1300 660 334.

When you are unwell, it can be overwhelming to try to sort through information. Ask a family member or friend to help if you need it.

You should also clarify with your medical team whether the information you find on the internet is accurate.

More information on hereditary cancer and genetics can be found on the following websites:

EVIQ

EviQ (www.eviq.org.au) has a wide range of information on cancer genetics and treatment for consumers.

CANCER AUSTRALIA

Cancer Australia (www.canceraustralia.gov.au) has information about family history, genetic testing for breast and ovarian cancer, and family cancer clinics.

CANCER COUNCIL AUSTRALIA

Cancer Council Australia (www.cancer.org.au) has information about family history, cancer and genetic testing. They also have a link to a list of all the family cancer clinics in Australia. You can also phone the Cancer Helpline on 13 11 20.

CANCER COUNCIL NSW

Cancer Council NSW (www.cancercouncil.com.au) has information about genetic testing and family history of cancer.

CANCER COUNCIL QUEENSLAND

Cancer Council Queensland (www.cancerqld.org.au) has a webinar on “Coping with the emotional impacts of breast and gynaecological cancer”.

CANCER COUNCIL WA

Cancer Council WA (www.cancerwa.asn.au) has information about familial aspects of ovarian cancer, as well as a presentation on “Ovarian cancer genetics and risk-reducing surgery”.

CANCER COUNCIL VICTORIA

Cancer Council Victoria’s (www.cancervic.org.au) “Challenging choices” webinar discusses issues arising from being a carrier of the BRCA1 and/or BRCA2 gene variant.

OVARIAN CANCER RESEARCH FOUNDATION

Ovarian Cancer Research Foundation (www.ocrf.com.au) has information on the latest research into ovarian cancer detection and personalised treatment.

CENTRE FOR GENETICS EDUCATION

Centre for Genetics Education (www.genetics.edu.au) has many excellent fact sheets relating to cancer in the family, gene mutations, genetic counselling, breast and ovarian cancer, and inherited predisposition.

CONTACT US

If you would like information about dealing with the practical and emotional needs of having ovarian cancer, call Ovarian Cancer Australia on 1300 660 334.

We can provide information about support groups and networks that can help you connect with other people in similar circumstances. We can also suggest how you can connect with counsellors and psychologists who specialise in helping people with cancer.

If you have continuous feelings of sadness, anxiety and fears relating to your cancer or your cancer coming back, we strongly advise you to seek medical help. Asking your specialist or GP for a referral to a counsellor or psychologist can help with managing your fears.

This booklet was a collaborative project involving the time, skills, generosity and compassion of many individuals and organisations.

We extend our heartfelt thanks to the people with ovarian cancer and their families who had genetic testing for sharing their stories and quotes, and their enthusiastic involvement in the photography and review of this resource.

• Christine, woman with lived experience

• Luisa “Lisa” Niglia, woman with lived experience

• Joan, woman with lived experience

• Ruth, woman with lived experience

• Ewa, woman with lived experience

• Anne-Maree, woman with lived experience

• Vicki, woman with lived experience

• Lisa, daughter with lived experience

• Anne, daughter with lived experience

• Michelle, daughter with lived experience

• Adrian, partner with lived experience

• Amy Pearn, registered genetic counsellor, The Gene Council

• Dr Kathryn Alsop PhD, The Australian Ovarian Cancer Study, Peter MacCallum Cancer Centre

• Dr Michael Bogwitz, genetic counsellor, Genomic Medicine & Parkville Familial Cancer Centre, The Royal Melbourne Hospital & Peter MacCallum Cancer Centre

• Dr Yeh Chen Lee, staff specialist at Prince of Wales Hospital - Royal Hospital for Women, senior research fellow at the NHMRC Clinical Trials Centre at the University of Sydney, conjoint senior lecturer at the University of New South Wales

• Camron Ebzery, senior genetic counsellor, Genetic Health Queensland

• Dr Helen Mar Fan, medical oncologist and cancer geneticist, Genetic Health Queensland & The Royal Brisbane and Women’s Hospital

• Veronica Perera, Ovarian Cancer Australia

• Dr Vanessa Alford, Ovarian Cancer Australia

• Sue Hegarty, Ovarian Cancer Australia

• Georgie McKenzie, Ovarian Cancer Australia

• Bridget Bradhurst, Ovarian Cancer Australia

Photography: Eric, Tom and Bruce | Charlie Kinross Photography | Cat Black Photo

CONTACT US

Call our Helpline on 1300 660 334

Monday to Friday 9am to 5pm AET support@ovariancancer.net.au

CONNECT WITH US

@ovariancanceroz /OvarianCancerAustralia @ovariancanceroz

ovariancancer.net.au

/OCAustralia /ovariancanceraustralia