New genetic causes of ovarian cancer found

A dozen new genetic variants that increase women’s risk of ovarian cancer have been discovered by a team of international researchers.


These are essential new clues about the “wiring” of a disease that will claim the lives of an estimated 1,050 Australian women in 2017, says Australian oncologist Associate Professor Clare Scott from the Royal Melbourne Hospital and Royal Women’s Hospital.

“At this stage this is largely about the identification of women at risk and tailoring risk prevention to the woman,” Prof Scott.

While a lot of hard work still needs to be done, it’s hoped a greater understanding of the function of the variants will lead to better outcomes for women with an ovarian cancer diagnosis.

Researchers from across the world trawled through the DNA of nearly 100,000 people, including 6000 Australian women with the most common types of ovarian cancer and healthy controls.

As a result they identified 12 new genetic drivers. They also confirmed that 18 previously identified variants do increase the risk of developing the deadly disease.

“This is the inherited component of the disease risk,” said Professor Georgia Chenevix-Trench from the QIMR Berghofer Medical Research Institute, which was involved in the study.

It’s already known a woman’s genetic make-up accounts for about a third of her risk of developing ovarian cancer.

Inherited faults in genes, such as the BRCA1 and BRCA2 gene mutations account for about 40 per cent of that genetic risk.

As a result of this new major international study, it is now known about 30 genetic variants in addition to BRCA1 and BRCA2 increase a woman’s risk.

“We’re less certain of environmental factors that increase the risk but we do know that several factors reduce the risk of ovarian cancer, including taking the oral contraceptive pill, having your tubes tied and having children,” said Prof Chenevix-Trench

Currently for women who carry the BRAC 1 and BRCA2 mutations their only way to prevent ovarian cancer is to undergo invasive surgery to remove their ovaries and fallopian tubes.

However screening for these newly discovered genetic variants could mean this preventative surgery is delayed for many of these women, said Prof Scott.

“If you can better tailor prevention surgery to the women who need it most that’s actually a very significant event,” Prof Scott told AAP.

“For example, some women need to have that surgery at 40 and then they get premature menopause and side effects related to that,” explained Prof Scott.

Professor Susan Ramus from UNSW said while the study had significantly advanced the knowledge of the genetic drivers of ovarian cancer, she agrees there is a lot more work to do.

“We really do not understand how these genetic variants affect risk but with further study they may help us to treat and possibly prevent ovarian cancer” Professor Ramus said.

The research is published in journal Nature Genetics.