Men With Hereditary Lynch Syndrome May Benefit From PSA Testing


Study results show that annual screening can identify cases of prostate cancer up to 8 times as often in those with hereditary Lynch syndrome than in those who do not get the tests.

Men who have an increased risk of cancer through hereditary Lynch syndrome could benefit from annual PSA testing starting at aged 40 years to detect early signs of prostate cancer, results from a new study by the Institute of Cancer Research in London, United Kingdom, show.

“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. And because cancers in these men are more likely to be aggressive and potentially life-threatening, they would need to have radical treatment,” Ros Eeles, professor of oncogenetics at the Institute of Cancer Research and consultant in clinical oncology and oncogenetics at the Royal Marsden NHS Foundation Trust, said in a statement.

“I anticipate that these results, and evidence from our ongoing follow-up work, will influence future national and international screening guidelines for this group of men, with the aim of picking out prostate cancer earlier and potentially saving lives,” she said.

Investigators found that annual PSA testing could pick up cases of prostate cancer up to 8 times as often in men with genetic Lynch syndrome, but PSA screening is not recommended for the general population.

There is increasing evidence that immunotherapies could be effective with these mutations.

The IMPACT clinical trial included 828 men from families with Lynch syndrome from 8 different countries. Of the 828 individuals, more than 600 have faults in genes MLH1, MSH2, or MSH6, which are associated with Lynch syndrome.

The results showed that of 305 men with faults in the MSH2 gene, 4.3% had prostate cancer while 3% of 135 men with faults in the MSH6 gene were diagnosed with prostate cancer.

Just 1 individual of the non-carrier in the MSH2 group was diagnosed with cancer, while none of the 177 non-carriers in the MSH6 group had cancer.

In the MSH2 group, 85% who had prostate cancer had more aggressive, potentially life-threatening tumors compared with 75% in the MSH6 group.

The study results did not show any cancer in the group with MLH1 mutations.

Investigators plan to follow-up in 5 years to compare treatment outcomes for these individuals.

Lynch syndrome increases the risk of several types of cancer but is most associated with bowel cancer.

The results were published in The Lancet Oncology.


Targeted prostate cancer screening could benefit men with inherited cancer syndrome. EurekAlert. News release. October 19, 2021. Accessed on October 20, 2021.

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