What patients need to know about genetic testing for ovarian cancer and why it is so important

26 Aug 2021

If you or a loved one is diagnosed with ovarian cancer, one of the first questions worth asking your doctor, is how quickly can you undergo genetic testing.  

Genetic testing  not only provides highly valuable information for both the patient and their family, however, also provides their medical oncologist with vital information ensuring recommended treatments are personalised to target their specific cancer type. 

At least 10 –15 percent of ovarian cancers are caused by germline, or inherited, genetic mutations.  

A mutation of the BRCA gene, such as BRCA-1 and BRCA-2, means a woman has a heightened risk of developing both ovarian and breast cancer. And if you do carry a mutated gene, you may also be at an increased risk of developing other cancers such as pancreatic, prostate or colon cancer. 

Knowledge is power, not simply for yourself but for family members too. Following the identification of a gene mutation in a cancer patient, this knowledge allows family members the choice to get tested themselves, as most people who carry a gene mutation aren’t aware of it until someone in their family receives a cancer diagnosis. 

Should a family member find themselves to be a mutation carrier but are currently cancer-free, they have important, but empowering choices to make. For example, if a woman tests positive for a BRCA gene mutation, she may be advised to undergo prophylactic surgery to remove both of her ovaries and fallopian tubes to eliminate her risk of developing ovarian cancer. The most common recommendation is to undergo a bilateral oophorectomy, ideally after childbearing years, most often between the ages 40 and 45, dependent upon family history and genetic mutation type. 

As mentioned earlier, genetic testing following an ovarian cancer diagnosis can help your medical oncologist consider which treatments may be right for your specific tumour type. This may include the use of PARP inhibitors, which work by preventing cancer cells from repairing their own DNA following chemotherapy. PARP inhibitors have been found to extend life for women at all stages of cancer treatment. And promising studies have shown they’re particularly effective in women with the BRCA gene.  

Knowing your family medical history is an important and powerful part of taking charge of your health. It’s important to share this history with your primary care doctor or other healthcare professionals that you see regularly.