Progress towards identifying ovarian cancer risk

19 January 2016

Results from separate research in the field of ovarian cancer could lead to better identification and treatment of this aggressive disease

Faulty gene identified that increases risk

An inherited faulty gene could increase risk of developing ovarian cancer threefold, UK scientists have discovered.

The Cancer Research UK team of scientists from University of Cambridge, University College London and Imperial College London, warn that around 32,000 women in the UK could unknowingly be carrying the faulty BRIP1 gene.

Each year around 7,100 women are diagnosed with ovarian cancer and 4,200 women die from the disease. Cancers linked to a fault in BRIP1 are particularly aggressive and women tend not receive a diagnosis until they are older and the cancer is at a later stage, all resulting in poorer outcomes for patients.

In identifying the gene, researchers compared the genes of more than 8,000 white European women – including around 3,250 women diagnosed with ovarian cancer, 3,400 women who did not have cancer and 2,000 women who had a family history of the disease.

Professor Paul Pharoah, professor of cancer epidemiology at the Cancer Research UK Cambridge Institute said: “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.

The PHG Foundation’s 2014 work on stratified screening for cancer, part of the European Commission funded Collaborative Oncological Gene-environment study, involved close collaboration with Prof Pharoah in examining the potential to improve risk stratification for screening by using genomic information alongside traditional risk factors of age and sex. The report makes recommendations on the implementation of stratified screening using genomic data for breast, ovarian and prostate cancer, once the evidence base supports such a strategy to reduce the number of people needed to undergo screening and increase cancer detection rates.  This new study could be moving us towards a need for such a strategy.

Improving accuracy of ovarian cancer testing

While the results from the UK team could lead to a test to identify women at high risk of this specific type of ovarian cancer, a multicentre effort carried out over 13 years and involving 5000 patients has succeeded in fine tuning an existing ultrasound test to precisely diagnose risk of malignancy of ovarian tumours in individual patients.  

The current standard ‘Simple Rules’ test, only allows the identification of a tumour as benign, malignant or inconclusive. Benign tumours may only require minimally invasive treatment, if any, whereas malignant tumours will need radical intervention. The current method produces inconclusive results for around 20 – 25 % of patients. 

Fine tuning the Simple Rules, the team led by Professor Dirk Timmerman, University Hospitals Leuven, Belgium, have shown how they can be used to precisely determine the risk of malignancy.

"The Simple Rules are intuitively attractive because of their ease of use, however, when used as originally suggested, they allow only a categorization of tumours into three groups: benign, malignant, or inconclusive," explained Prof Timmerman."

The improved test is ready for clinical use. 

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