New research from the University of Cambridge reveals that a gene fault linked to a rare condition may be far more common than doctors once believed.
This gene, called FLCN, is associated with a condition known as Birt-Hogg-Dubé syndrome, which can cause lung cysts, benign skin growths, and a higher risk of kidney cancer.
In the past, experts believed only about one in 200,000 people had this gene fault.
But new data from over 550,000 people in three major UK genetic studies shows that as many as one in 3,000 people may carry it. That’s nearly 100 times more common than previously estimated.
People diagnosed with Birt-Hogg-Dubé syndrome have a 37% lifetime risk of experiencing a punctured lung, also known as pneumothorax.
However, this new study found that people who carry the faulty gene but have not been diagnosed with the full syndrome have a lower risk—about 28%.
The difference was even more dramatic when it came to kidney cancer. While 32% of diagnosed patients develop kidney cancer, only 1% of gene carriers in the wider population do.
A punctured lung happens when air leaks from the lung into the chest cavity, causing pain and breathing difficulties.
In most cases, this occurs in tall, thin young men and often heals without serious problems.
But if someone outside this group experiences a collapsed lung—especially in middle age—doctors may investigate further. MRI scans showing cysts in the lower parts of the lungs can suggest Birt-Hogg-Dubé syndrome.
Professor Stefan Marciniak from Cambridge University Hospitals co-leads a national network focused on rare inherited lung conditions.
He says catching Birt-Hogg-Dubé early is important because family members could also be at risk of developing kidney cancer. The good news is that lung problems often appear many years before cancer does, giving doctors time to monitor and treat it early if needed.
Professor Marciniak was surprised to find such a big gap between the risks in diagnosed patients and those in the general population who have the faulty gene. He believes this means other genetic or environmental factors must be at play.
As more people undergo genetic testing, this faulty gene will likely be found more often. But unless someone also shows other signs of Birt-Hogg-Dubé syndrome, such as skin lumps or lung cysts, Professor Marciniak says there’s no need for extra cancer screening.
The study was funded by the Myrovlytis Trust, which has long believed this condition is underdiagnosed. CEO Katie Honeywood said the research highlights the need for greater awareness among doctors and the public, especially for anyone who has had a collapsed lung.
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