Men with BRCA gene mutations ‘should be given annual prostate cancer checks’

Men with BRCA1 and BRCA2 gene mutations should be given annual prostate cancer screening checks, leading scientists have said.

Experts at the Institute of Cancer Research (ICR) in London said men with these mutations are at such high risk of the disease they would benefit from screening.

The team has been working to understand who is at highest risk of the disease, and who could therefore benefit from targeted checks.

The UK National Screening Committee is reviewing the evidence for a prostate cancer screening programme following calls for all men – or those at highest risk – to have annual tests.

At present, there is no national screening programme owing to concerns the prostate specific antigen (PSA) test is not reliable enough and can lead to men undergoing invasive tests and being treated for cancers that will not harm them.

However, it is known that BRCA gene mutations are linked to a higher chance of developing prostate cancer at a younger age and in a more aggressive form.

Of 100 men with a BRCA2 variant, for example, between 21 and 35 of them will develop prostate cancer before the age of 80, research has found.

Back in 2019, the ICR team said men with BRCA2 mutations have such a high risk of aggressive prostate cancers that they should be offered annual PSA testing.

Now, their latest study findings, presented at the European Society for Medical Oncology (ESMO) Congress in Berlin, suggest men with BRCA1 mutations should also be offered an annual PSA test.

The Impact study, which is funded by Cancer Research UK, the ICR and others, assessed the potential benefits of PSA testing in men with BRCA1 and BRCA2 mutations at 65 centres in 20 different countries around the world.

It found that men with the BRCA1 genetic fault were more than three times as likely to have aggressive prostate cancers compared with people without the fault.

The study found there was no difference in age of diagnosis, or the risk of developing prostate cancer, for BRCA1 carriers compared with non-carriers.

The new results also point to the risk of prostate cancer in BRCA2 carriers being more than double than in non-carriers, from 1.4% to 3.1%.

Meanwhile, the average age of diagnosis is 60 for carriers, compared with 65 for non-carriers.

The ICR team said that while more accurate prostate cancer tests – such as a saliva test to detect genetic risk of cancer – are being trialled, targeted screening using a PSA test for those at highest risk could significantly improve early detection of the disease.

The scientists are also calling for guidance to be updated so that both BRCA1 and BRCA2 carriers can receive annual PSA testing.

Ros Eeles, professor of oncogenetics at the ICR, who led the study, said: “Our research shows that men with BRCA1 and BRCA2 mutations face a significantly higher risk of aggressive prostate cancer.

“Until more accurate diagnostic tests become available, targeted PSA screening in this high-risk group could detect these cancers earlier, when treatment is more effective.

“We are urging regulatory bodies to act on the evidence and update current guidance so that all men from 40 years with a BRCA1 or BRCA2 mutation are offered annual PSA testing.

“We are expecting an update to this guidance soon, and we hope to see the inclusion of BRCA carriers in any targeted screening programme, to give these men more control over their health and improve timely diagnosis.”

The study offered annual PSA testing to more than 3,000 men for five years.

When looking at more widespread population screening, scientists and charities seem to be divided on the issue.

Evidence suggests PSA levels can rise for many reasons, including simple infections, and 75% of people with a raised PSA do not have prostate cancer.

A raised level can mean men are referred for unnecessary biopsies or MRI, or treated for tumours that may never cause harm.

The PSA test can also miss aggressive cancer. Evidence suggests around 15% of people with a normal result may actually have prostate cancer.

Amy Rylance, assistant director of health improvement at Prostate Cancer UK, said: “These exciting findings confirm that annual PSA blood tests would enable men with the BRCA gene variant to find aggressive prostate cancers at an earlier, curable stage. It’s important evidence that men at the highest risk of this disease would benefit from screening.

“Three years ago, Prostate Cancer UK submitted evidence to the UK National Screening Committee that made the case for screening men with a family history of prostate cancer and black men – we await their decision.

“We’re proud that Prostate Cancer UK has funded Professor Eeles’ work for many years – and that she is now one of the lead researchers on our £42m Transform screening trial, which will find the missing evidence and new tests needed to build a safe and effective screening programme for all men.”