Study presents a fresh opportunity for early ovarian cancer diagnosis

U. of Cambridge's Paul Pharoah

Each year around 7,100 women are diagnosed with ovarian cancer, with more than 4,200 of these patients dying from the disease. Cancer Research UK scientists have recently discovered a genetic mutation that increases the risk of developing ovarian cancer threefold, a finding that could lead to earlier diagnosis and subsequently earlier treatment.

Researchers from the University of Cambridge, University College London and Imperial College London, funded by Cancer Research UK, published their findings this month in the Journal of the National Cancer Institute.

In a genetic screening of 8,000 white European women with ovarian cancer; without cancer; and without the disease but with a family history of ovarian cancer. Of a panel of known genes the researchers identified mutations in the BRIP1 gene and correlated it with reduced survival among the cohorts.

BRIP1 is thought to behave like a classical "tumor suppressor" gene and so mutations in this gene can reduce the function of this protein required for keeping the cancer cells in check.

"Our work has found a valuable piece of the puzzle behind ovarian cancer and we hope that our work could eventually form the basis of a genetic test to identify women at greatest risk," explained Paul Pharoah, who is a professor of cancer epidemiology at the University of Cambridge. "Finding these women will help us prevent more cancers and save lives. This would be important in a disease like ovarian cancer, which tends to be diagnosed at a late stage when the chances of survival are worse."

Nell Barrie, the senior science information manager at Cancer Research UK, added: "Research like this, which looks at inherited genetic changes and how they can affect a woman's risk, is vital. We urgently need ways to detect ovarian cancer early, as the cancer is often diagnosed when it's too late for effective treatment because the cancer has already spread. We hope this research will lead to a reliable way to spot women at a high risk, so they can be monitored to find any signs of the disease at an early stage."

- here's the release
- here's the journal article