Up to 20% of epithelial ovarian cancers are thought to be the result of inheriting a faulty gene from either your mother’s or father’s side of the family.

Many women who have ovarian cancer or who have a relative with ovarian cancer want to find out if the cancer may be hereditary. Click through below to find more information.

Genes are made up of DNA They act as ‘chemical instructions’ that tell our body’s cells what to doGenes determine things such as what colour hair and eyes we have and how tall we are. Genes also provide the recipe for building all the chemical substances in our bodies and allow the cells to function normallyHumans have between 20,000 to 25,000 pairs of genes in every cell of their bodies. One copy of each pair of genes is inherited from each of our parents.  Sometimes changes can occur in genes that may stop the gene from working as it should. These changes are often called a ‘faulty gene’ or ‘mutation’. In some cases, these faulty genes can lead to disease. 

Most women diagnosed with ovarian cancer do not have a history of ovarian cancer in their family. However, some women’s family history of ovarian cancer can increase their risk of developing the disease. You may have a family history by chance or because you have inherited a faulty gene that increases your risk of developing cancerYou are considered to have a strong family history of cancer if you have two or more close relatives on the same side of the family (father’s or mother’s relatives) who have or had cancer and one of the following applies: 

  • The family members have all had ovarian cancer or different cancers (e.g. bowel or breast) that can be caused by the same faulty gene. The cancers were diagnosed when the relatives were younger than age 50;
  • You have a family member who has had genetic testing confirming they have a faulty gene;
  • You have Ashkenazi Jewish ancestry (who have a higher incidence of BRCA mutations than the general population); or
  • Your own cancer was diagnosed at an early age, or you have had more than one type of cancer.

Ovarian cancer caused by inheriting a faulty gene is called ‘hereditary cancer’. Having a personal or family history of ovarian, breast, colon or endometrial cancer may mean you have inherited an increased risk of developing ovarian cancer. 

Generally, the more relatives from the same side of the family who have had these related cancers, the greater your risk of having a hereditary cancer. However, it is still possible to inherit a faulty gene without having a family history of these cancers. 

Inheriting a faulty BRCA1 or BRCA2 gene accounts for most cases of hereditary ovarian cancerThese genes are named for their connection to breast cancer (BReast CAncer genes 1 and 2) but can also be associated with other cancers, including cancer of the fallopian tube, peritoneum, prostate, pancreas and breast cancer in men. 

The BRCA1 and BRCA2 genes normally help to prevent cancer, but when a woman inherits a faulty version of either gene, she is less protected against cancer. Women who inherit a faulty BRCA1 gene have about 44% risk of developing ovarian cancer, while women who inherit a faulty BRCA2 gene have approximately a 18% risk of developing ovarian cancer up to the age of 80. This compares to less than 2% risk for women in the general population. 

Many women who have a faulty BRCA1 or BRCA2 gene 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 faulty gene but not have developed ovarian or breast cancer;
  • There may be few females in a family, making it difficult to see a pattern of family history; and/or
  • There may be little know about the family history (eg. a women is adopted)

Although rare, inheriting faulty genes other than BRCA1 and BRCA2 can also increase your risk of developing ovarian cancer. Some of the other genes known to increase the risk of developing ovarian cancer include: 

  • Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer syndrome (HNPCC)) is a bowel cancer predisposition syndrome linked to faults in the genes MLH1, MSH2, MSH6 and PMS2. Women who inherit a faulty copy of one of these genes have up to a 15% risk of developing ovarian cancer, however, the risk varies depending on the specific faulty gene inherited.  
  • RAD51C and RAD51D faulty genes (very rare).

There are also other rare genetic links to ovarian cancer, and ongoing research may uncover genetic links not currently known. Inheriting one of these gene faults increases a person’s risk of developing ovarian cancer but doesn’t mean that they will develop ovarian cancer. 

All women diagnosed with invasive epithelial ovarian cancer as well as those with fallopian tube or primary peritoneal cancer, regardless of their age or family history, are encouraged to seek advice regarding genetic testing.  

If you have not been offered genetic testing, we recommend you ask your specialist about this. 

Cancer Australia recommends woman with ovarian cancer should be offered genetic testing for a faulty BRCA1 or BRCA2 gene if:  

  • she has Grade 2 or 3 invasive non-mucinous ovarian cancer diagnosed at 70 years or younger; or 
  • she has invasive non-mucinous ovarian cancer and a personal history of breast cancer (regardless of age); or
  • she has invasive non-mucinous ovarian cancer and a family history of breast or ovarian cancer (regardless of age); or
  • she is from a population known to have a higher risk of faulty BRCA1 or BRCA2 gene (such as Ashkenazi Jewish women); or 
  • her ovarian cancer has come back after treatment with a platinum-based treatment, and meets the Medicare Benefits Schedule (MBS) criteria for treatment with a Poly ADP-ribose polymerase (PARP) inhibitor. 

It is important to have a discussion with your doctor about genetic testing as there may be other reasons for you to be tested for gene mutations. 

Your doctor may refer you to a Family Cancer Clinic to discuss genetic testing or they may facilitate the testing themselves. If you find out you have inherited a faulty gene that has caused your ovarian cancer, you should be referred to a Family Cancer Clinic who can discuss the results with you in greater detail. Your genetic test result can sometimes change your treatment plan and follow-up care. It may also enable you to enter certain clinical trials. There are new drugs called ‘PARP (poly ADPribose polymerase) inhibitors’ that may be offered to women who have BRCA gene faults. 

If a faulty gene associated with a higher risk of ovarian cancer is found, the genetic counsellor will suggest offering genetic testing to other family members. If other family members have inherited a faulty gene associated with an increased risk of ovarian cancer, a gynaecological oncologist can advise about ways to reduce their risk. 

Some women are concerned about the impact genetic test results will have on their current or future insurance policies. Health insurance is not based on a risk assessment of your health and therefore genetic testing should not affect health insurance policies. Life insurance and similar products may be impacted by genetic testing. For up to date information regarding insurance and genetic testing, please see the Centre for Genetics Education factsheet on Life Insurance Products and Genetic Testing in Australia. Read the factsheet here.

Cancer usually develops as a result of genetic changes in cells which cause abnormal growth. Unlike inherited genetic faults, these genetic faults occur after a person is born and are called somatic mutations and are only found in the cancer cells. Sometimes women will be offered genetic testing of their tumour tissue to look at the somatic mutations in the tumourIdentifying somatic mutations may help identify targeted treatment options. Inherited genetic faults may also be identified through the process of tumour genetic testing.   

Living with ovarian cancer: Genetic Testing

More Information

Learn more by downloading our Ovarian Cancer Australia Genetic Testing Booklet

Learn more about the Traceback project, a study which aims to reduce the number of new ovarian and breast cancers diagnosed in Australia by identifying families that may have a hereditary risk of cancer development because of inherited gene changes (mutations) in BRCA1, BRCA2 and other cancer risk genes.

Watch our webinar on family history and genetic testing

Cancer Council Australia has a section on family cancers with many useful resources and links.

Visit www.genetics.edu.au

This page was last updated in December 2019.