GENETIC TESTING DEPLOYED IN FIGHT TO COMBAT OVARIAN CANCER

For decades the survival rates for ovarian cancer have remained stubbornly low.

Dubbed the silent killer, it has few symptoms and women are often diagnosed when the cancer is already at an advanced stage.

It’s these sobering statistics which are driving oncologist and cancer genetics specialist Associate Professor Yoland Antill to develop new treatments and tests that will provide greater hope to women in Australia and around the world.

Cabrini Health’s Assoc Prof Antill has been focusing her efforts on expanding the availability of genetic testing to women with ovarian cancer and their families and spoke with CHA to highlight Ovarian Cancer Awareness Month.

This field has been expanding since it was discovered that for women with the most common form of ovarian cancer up to 20% of patients will have an inherited fault in a gene that has led to their ovarian cancer. These include the BRCA genes. With only around half the women with the faulty gene having a family history of cancers that suggested a hereditary link, it was important to consider new ways of providing genetic testing to women.

Assoc Prof Antill, together with a group of like-minded researchers and clinicians around Australia, have developed a model of genetic testing that can now be offered in the home hospital or standard clinics. This type of testing saves women extra appointments with a specialist genetics unit if they don’t need this extra level of care.

Genetic testing is important not only for the patient to understand why she might have developed ovarian cancer, but it now opens up an opportunity for a new targeted therapy known as Olaparib. This discovery has proved beneficial to both women in the early and later stages of ovarian cancer. It’s been hailed as “a turning point’.

Additionally, if a faulty gene is identified in a family, it opens up an opportunity for testing to be offered to other family members. In those family members carrying the faulty gene, they would have the chance to screen earlier or to prevent cancers from occurring. Mainstreaming testing is now offered widely across Australia.

Assoc Prof Antill is also working on rarer types of ovarian cancer, known as mucinous ovarian cancer. This is only found in 3-5% of all women diagnosed with ovarian cancer.

By working with other researchers around the world, the Melbourne-based team were able to build up the largest number of tumour samples of this rare cancer type.

It revealed the cancer was vastly different to the more common form of ovarian cancer and did not respond to standard chemotherapies or other conventional treatments used for ovarian cancer. It also settled a debate over whether this rare form was actually ovarian cancer or a form of bowel cancer – the answer came back as very clearly ovarian.

“Guidelines for how we treat this cancer will now be changed the world over which we anticipate will have a pivotal impact on the approach to managing this type of cancer.”

She hopes that these patients will be able to participate in studies that focus on what may be causing the cancer cells to grow, known as targeted therapies. Assoc Prof Antill said: “Because this is a very rare tumour type, and only a proportion of all tumours may have one type of target, it’s very difficult to design a clinical trial just for women with mucinous ovarian cancer. One study option might be to include these women in a “basket study” where several tumour types, all with the same potential target, receive a novel treatment opportunity. The only way forward and to open up new ways to target these rare cancers will be to think beyond the traditional trial models.”

With around 1500 women a year being diagnosed with ovarian cancer every year and a life expectancy of just 46% over five years, the work being done by Assoc Prof Antill at Cabrini, together with her fellow researchers, could be transformative to women all over the world.