Prostate cancer screening could be targeted at men with a high genetic risk of the disease, thanks to the discovery of new DNA variants that affect the condition.

It means that men could be offered genetic tests to predict their inherited susceptibility to prostate tumours, so that those at most risk can get more screening. While it is already possible to screen for prostate cancer, which is diagnosed in 35,000 British men each year and kills 10,200, this is currently recommended only for men with a family history of the disease.

Current methods rely on a blood test with a high error rate, which must be confirmed with an invasive biopsy that carries a small risk of infection.

The findings, from four separate teams, make a national screening programme based on genetic tests a possibility. Men found to be at low risk would not be offered the blood test, while those at high risk would take it.

“If you believe in screening, this is definitely something you should do,” said Kari Stefansson, chief executive of deCODE Genetics, an Icelandic company that conducted one of the studies. “This constitutes a big step towards what people are dreaming of in terms of personalised medicine.”

Professor Doug Easton, of the University of Cambridge, who led another of the studies, said: “It’s all work in progress and there's lots more still to find, but it does seem that prostate cancer is more amenable than most diseases to this approach.”

He said, however, that research into the clinical usefulness of such genetic tests would still be required before the NHS could launch such a programme.

In the studies, which are published in the journal Nature Genetics, the teams have together found nine new genetic variations that affect a man’s lifetime risk of prostate cancer.

The other two groups were headed by Rosalind Eeles, of the Institute of Cancer Research in Sutton, southwest London, and Meredith Yeager, of the US National Institutes of Health. Dr Eeles and Professor Easton were funded by Cancer Research UK.

The findings bring the number of genetic variants firmly linked to prostate cancer to above 20, and increase the accuracy with which it is possible to predict disease risk.

The Cancer Research UK scientists estimate that about one man in 100 carries most of these variants, which would roughly double his lifetime risk of prostate cancer from about 10 per cent to about 20 per cent.

Dr Stefansson, whose company sells a $500 (£300) test that now includes the new variants, said that approximately one man in 300 has genetic profile that confers an even higher lifetime risk, of between 36 per cent and 40 per cent.

“If our society really believes in screening programmes, then it would be really foolish not to include an instrument that can pick up this much risk,” he said.

Dr Eeles said: “Our study adds further compelling evidence that genetic factors can influence a man’s risk of developing prostate cancer. These results will help us to more accurately calculate the risk that a man could develop prostate cancer which will enable more targeted screening. Understanding more about these genes could also lead to the development of new treatments.”

Several of the newly identified variants, such as those in genes called NKX3.1 and ITGA6, could potentially be targeted with new therapies, Dr Eeles said. A group of drugs called HDAC1 inhibitors, which are already in clinical trials, already work a similar molecular pathway to that controlled by NKX3.1.

Dr Stefansson said the findings vindicate companies like his own, which sell genetic tests directly to consumers. Such services have been widely criticised by doctors and scientists, who argue that they do not yet provide information that is relevant to patient care.

“Those who say that these tests do not allow us to pick up clinically meaningful risks are simply wrong, and they’re refusing to look at the data,” he said.

Harpal Kumar, chief executive of Cancer Research UK, said: “This important research increases our knowledge of how some genes can affect men’s risk of developing prostate cancer. Thanks to international collaborations like this, funded by Cancer Research UK and others, we have been able to scan the DNA of thousands of men to discover more about the genes that affect prostate cancer risk. This is ground-breaking research that we hope will open up more avenues worldwide to diagnose, prevent and treat this disease better.”

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