A prostate cancer risk tool developed by UK researchers could help better target screening and diagnostic tests, a study suggests.
Research is now being planned on how the CanRisk-Prostate tool, which combines information on the genetic variants and family history of prostate cancer to provide a personalised cancer risk, could be used in primary care, Cambridge University researchers said.
The comprehensive score makes use of rare but moderate to high risk inherited faulty versions of the BRCA2, HOXB13 and possibly BRCA1 genes alongside 268 other more common but low-risk variants, together with detailed cancer family history.
The model was put together using genetic and family history date from almost 17,000 families affected by prostate cancer and validated through data from the UK Biobank study from 170,000 men.
Reporting the results in the Journal of Clinical Oncology, the researchers said that the predicted risk was higher for men whose father had been diagnosed with prostate cancer – 27% if the father was diagnosed at an older age (80 years) but as high as 42% if the father was diagnosed at 50 years.
When it came to genetic variation, the researchers found 54% of men with an alteration in the BRCA2 gene would develop prostate cancer but among those with BRCA2 gene faults, the risks were substantially lower if they also had a small number of the low-risk variants, but much higher if they also had a large number of the low-risk variants.
It will be the combination of family history, rare and common genetic variations that will enable a much more accurate personalised risk score to guide screening and diagnostic decisions, they concluded.
Testing the model in the Biobank population, of which 7,600 developed prostate cancer in the decade after they joined the study, researchers found 86% of those who were diagnosed with the condition were in the half of men with the highest predicted risks.
Once further studies are done, the tool could be used by GPs to advise men about their risk but also better direct PSA testing or decision to do further tests in those with raised PSA.
Professor Antonis Antoniou from the Department of Public Health and Primary Care at the University of Cambridge said: ‘What we need is a way of identifying those men who are at greatest risk, allowing us to target screening and diagnostic tests where they are most needed, while also reducing the harms for those men who have low risk of the disease.’
He told Pulse that work was already ongoing to determine the feasibility of genetic testing in general practice but studies would also be needed on how such a tool would be implemented.
The researchers said over the next year they would build the risk model into the already widely used CanRisk tool, to aid risk-based clinical management of men seen in family cancer clinics.
And the team will also include more data in the CanRisk-Prostate tool in men from non-European ethnicities to widen its applicability.
Co-author Professor Ros Eeles from The Institute of Cancer Research, London, added: ‘This is an important step forward as it will enable clinicians to have conversations with men about their individual risk of prostate cancer based on the most accurate computer model to date.’
