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Men with BRCA2 defect should get annual prostate cancer checks

Researchers say their research shows that European guidelines must change

Mark Gould

Tuesday, 05 November 2019

Scientists say that guidelines should change so that all men over 40 with faults in the BRCA2 gene should be offered regular Prostate-specific antigen (PSA) testing.

The experts from the Institute for Cancer Research (ICR) said about one in 300 men in the UK had mutations in BRCA2, which increases their risk of prostate cancer. However, most will not know whether they carry the mutation as it is not routinely tested for.

The ICR will tell delegates at the 2019 NCRI Cancer Conference* in Glasgow today that men with BRCA2 mutations were almost twice as likely to be diagnosed with prostate cancer as non-carriers, and were diagnosed at a younger age – an average of 61 years compared with 64.

Crucially, men with the BRCA2 gene fault more often had serious, potentially life-threatening tumours – with 77% having these having clinically significant disease compared with 40% among non-carriers.

The ICR is leading research to assess the long-term effects of regular PSA testing in these men. But they say their results are already so clear-cut that guidance needs to change as soon as possible rather than wait up to 10 years for long-term survival data.

The European Association of Urology’s guidelines committee will now be considering the new evidence – and the researchers hope it will make a Europe-wide recommendation that all men over 40 who carry the BRCA2 mutation should have an annual PSA test.

At the conference the ICR researchers will present findings from the IMPACT study, which assessed the potential benefits of PSA testing in men with BRCA2 mutations at 65 centres in 20 different countries around the world.

Their study – funded by Cancer Research UK and a donation to the ICR from the Ronald and Rita McAulay Foundation – found that annual PSA tests were more likely to pick out life-threatening forms of prostate cancer in men who carry the BRCA2 gene fault than in non-carriers.

Professor Ros Eeles, professor of oncogenetics at the ICR, who leads the IMPACT study, said: “Our research shows very clearly that men with the BRCA2 gene fault are at increased risk of aggressive prostate cancer and that regular PSA testing could go some way to improving early diagnosis and treatment.

“We’re now calling on regulatory bodies to update guidance so men with BRCA2 defects can get regular PSA screening. Every man over the age of 40 who carries a mutation in the BRCA2 gene should be offered an annual PSA test, as a way of giving men more control over their own health by identifying prostate cancer which is more aggressive and needs treatment.”

Dr Matthew Hobbs, from the charity Prostate Cancer UK, said: "[We are] funding a project to model the long-term effectiveness of a range of potential screening strategies, including defining whether there are certain high-risk groups for whom the benefits of regular screening greatly outweighs the potential for overtreatment.

"It may be that screening all men with a BRCA2 mutation could be one of the answers, so we will look carefully at the results of this study."


*Eeles R, et al. ‘Interim results from the IMPACT study: evidence for PSA screening in BRCA2 mutation carriers.’

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