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Faulty Gene May Raise Lung Risk in 1 in 3,000 People

by Dr. Leena M on Apr 9 2025 4:05 PM
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A common faulty gene may increase lung collapse risk but not cancer.

 Faulty Gene May Raise Lung Risk in 1 in 3,000 People
What if a hidden glitch in your genes quietly raised your chances of a lung collapse—without you even knowing? New research from Cambridge University reveals a surprising number of people may be silently carrying a faulty gene linked to serious, yet often overlooked, health risks. This groundbreaking discovery is flipping old estimates on their head—and could change how we think about genetic screening forever(1 Trusted Source
FLCN: The causative gene for Birt-Hogg-Dubé syndrome

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Hidden Prevalence of a Risky Gene

One in 3,000 people may carry a faulty gene linked to Birt-Hogg-Dube syndrome, which increases their risk of a punctured lung. The gene, FLCN, is associated with symptoms such as benign skin tumors, lung cysts, and an increased risk of kidney cancer. The study found that between one in 2,710 and one in 4,190 individuals carry the specific variant of FLCN.


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Understanding Pneumothorax and Its Clues

Punctured lung, or pneumothorax, is a condition causing painful deflation and shortness of breath. It affects around one in 200 young men in their teens or early twenties. If the individual doesn't fit common characteristics, doctors may look for cysts in the lower lungs, indicating Birt-Hogg-Dubé syndrome, which may be present on an MRI scan.


Genetic Mysteries and Future Implications

Professor Marciniak, a researcher at the University of Cambridge, has discovered that the risk of kidney cancer is significantly lower in carriers of the faulty FLCN gene who have not been diagnosed with Birt-Hogg-Dubé syndrome. The study suggests that there may be an additional genetic background interacting with the gene to cause the additional symptoms.

Professor Marciniak believes that with increasing use ofgenetic testing, more people with these mutations will be found, but unless other signs are present, there is no reason to believe they will have the same elevated cancer risk.

Reference:
  1. FLCN: The causative gene for Birt-Hogg-Dubé syndrome - (https://pubmed.ncbi.nlm.nih.gov/28970150/ )


Source-University of Cambridge



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