Men with Lynch syndrome benefit from targeted PSA testing for prostate cancer, according to a study published today.
Lynch syndrome is thought to affect 175,000 people in the UK but is only diagnosed in around 5% of this group, according to researchers.
Professor Ros Eeles, of the Institute of Cancer Research, London, UK, and colleagues carried out a study of 828 men from families with Lynch syndrome in eight countries. Gene testing showed that 600 of the men had Lynch syndrome themselves and highlighted specific mutations.
Participants were given annual PSA tests, which showed that 4.3% of the men with faults in the MSH2 gene developed prostate cancer compared with 0.5% of the men without.
Among those with mutations in the MSH6 gene, 3% developed prostate cancer, compared with 0% of those without.
The researchers report that men with these mutations are eight times more likely to be diagnosed with prostate cancer, to be diagnosed at a younger age, and to be diagnosed with more aggressive tumours.
This suggests over diagnosis – the reason why PSA screening is not recommended for men in the general population – is unlikely, say the team. They call for targeted annual screening from age 40 in this high-risk group.
Findings were published yesterday in Lancet Oncology. Professor Eeles said: “Our new findings show that PSA testing in men with Lynch syndrome is much more likely to pick up life-threatening prostate cancer than in the general population.
“Targeted screening has the potential to pick out aggressive prostate cancers at an early stage in men at high inherited risk, increasing their chances of survival. I anticipate that these results, and evidence from our ongoing follow-up work, will influence future national and international screening guidelines."
Targeted prostate cancer screening in men with germline MSH2 and MSH6 pathogenic variants detects clinically significant disease: Initial results from the IMPACT study. Lancet Oncology 19 October 2021
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