Leading cancer researchers have called for men with BRCA1 and BRCA2 gene mutations—often dubbed the “Angelina Jolie gene”—to receive annual prostate cancer screenings, in a move aimed at improving early detection and reducing mortality from aggressive prostate cancer.

The Institute of Cancer Research (ICR) in London, which has been at the forefront of identifying high-risk groups for prostate cancer, recently presented new findings at the European Society for Medical Oncology (ESMO) Congress in Berlin. Their latest study expands previous recommendations, which centred on men with BRCA2 mutations, to include men carrying BRCA1 mutations as well. Both groups face a considerably heightened risk of developing aggressive prostate cancers compared to those without these genetic mutations.

BRCA gene mutations are already well-known for increasing the likelihood of breast and ovarian cancers, a link famously highlighted by actress Angelina Jolie, who underwent preventive surgery after discovering she carried a BRCA1 mutation. However, the genetic faults also significantly raise the risk for men, particularly for prostate cancer. According to research cited by the ICR, between 21 and 35 out of 100 men with a BRCA2 mutation will develop prostate cancer before the age of 80. Men with these mutations tend to be diagnosed around the age of 60, younger than the average diagnosis at 65 for non-carriers, and are more prone to more aggressive cancer types.

The Impact study, funded by Cancer Research UK alongside the ICR, involved more than 3,000 men across 65 centres in 20 countries. It demonstrated that men with a BRCA1 mutation have over three times the risk of developing aggressive prostate cancer, while BRCA2 carriers face more than double the risk compared to non-carriers. While the risk of developing prostate cancer itself did not differ significantly for BRCA1 carriers when compared to others, the severity of the disease and its early onset emphasise the value of targeted screening.

Prostate cancer remains the most common cancer in men in the UK, with approximately 63,000 new cases and 12,000 deaths annually. Early-stage diagnosis is critical; around 90% of men diagnosed early survive for at least ten years, but survival drops dramatically to fewer than 20% when the disease is detected late and has spread. The research team argues that until more precise tests—which could include saliva tests to detect genetic cancer risk—become widely available, regular PSA (prostate-specific antigen) blood tests for men with BRCA mutations could significantly improve early detection rates.

Ros Eeles, professor of oncogenetics at the ICR and lead researcher, stated, “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.” She urged regulatory bodies to update guidelines so that all men aged 40 and over with BRCA1 or BRCA2 mutations are offered annual PSA testing. The UK National Screening Committee is currently reviewing new evidence and is expected to update its screening recommendations later this year.

The findings have been welcomed by advocacy groups. Amy Rylance, assistant director of health improvement at Prostate Cancer UK, commented: “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.” Prostate Cancer UK has long pressed for targeted screening, particularly for men with a family history and those from Black ethnic backgrounds, who are also at elevated risk.

The call for targeted prostate cancer screening received notable political backing recently when former Prime Minister Rishi Sunak and Labour’s deputy leader David Lammy jointly advocated for focused screening programmes for men at highest risk, highlighting the potential to save thousands of lives annually and bring generational health benefits.

Background research from institutions such as the National Cancer Institute and publications in peer-reviewed journals has reinforced the link between BRCA mutations and not only prostate but also male breast and pancreatic cancers. Men carrying these mutations often remain unaware of their elevated risk, underscoring the need for increased genetic testing and follow-up screening. The Fred Hutchinson Cancer Center and other experts have highlighted the critical role of genetic counselling and personalised screening strategies in improving outcomes for these high-risk men.

In sum, the growing body of evidence suggests that men with BRCA1 and BRCA2 mutations represent a distinct high-risk group who stand to benefit significantly from proactive, annual PSA screening. While awaits formalised clinical guidelines, experts urge health regulators and professionals to consider implementing these targeted screening measures promptly to reduce prostate cancer mortality and improve early intervention.

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Source: Noah Wire Services