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‘Incredibly exciting’ find implicates defect in RAD51D gene as hugely increasing the chances of developing ovarian cancer Scientists have pinpointed a rare gene variant that increases a woman’s risk of developing ovarian cancer six-fold. The discovery will lead to new diagnostic tests to identify the cancer earlier and provides better information to help doctors choose targeted anti-cancer drugs. Ovarian cancer can develop without many clear symptoms and is the fifth most common cancer in women. In the UK, 6,500 cases are diagnosed every year and, of those, almost 4,000 end in death. In the latest study, scientists found that, in around 60 cases of ovarian cancer every year in the UK, the women had faults in a gene called RAD51D. Anyone who inherits a faulty version of this gene, they calculated, therefore had a one in 11 chance of developing ovarian cancer, compared with one in 70 for the general population. “At this level of risk, women may wish to consider having their ovaries removed after having children, to prevent ovarian cancer occurring,” said Professor Nazneen Rahman, head of the division of genetics and epidemiology at the Institute of Cancer Research and the Royal Marsden hospital, who led the research. “There is also real hope on the horizon that drugs specifically targeted to the gene will be available.” Rahman’s colleagues have also showed that a new class of anti-cancer drugs going through clinical trials, called PARP inhibitors, are effective in killing ovarian cancer cells with RAD51D faults. In laboratory tests, the drugs killed 90% of cells that did not have a functioning RAD51D gene, compared with just 10% of cells where the gene was working properly. A decade ago, scientists found that the BRCA1 and BRCA2 genes accounted for around 10-15% of ovarian cancers and there have been several findings since that show very small further contributions to the risk of developing the disease. In that context, Cancer Research UK described the discovery of RAD51D variants as a “landmark”. Rahman’s team looked at DNA from women in 911 families with breast and ovarian cancer, and compared it to the DNA from a control group of 1,060 people in the general population. The researchers found a series of eight faults in a gene called RAD51D in the women with ovarian cancer, compared with just one fault in the control group. Their work is published on Sunday in Nature Genetics . RAD51D seems to be important in the repair of damaged DNA so if it does not function properly, faults can build up in cells as they grow and divide. More faults means more opportunities for the cell to become cancerous. Professor Nic Jones, chief scientist at Cancer Research UK, said it was “incredibly exciting” to discover this high-risk gene for ovarian cancer. “It’s further evidence that a range of different high-risk genes are causing the development of breast and ovarian cancer and we hope there are more waiting to be discovered in different cancers.” He added that the results would also help inform personalised treatment for ovarian cancer and “give doctors better information about risks of cancer to tell patients”. Cancer Medical research Genetics Biology Cancer Health Alok Jha guardian.co.uk