Genetic defects found to be linked to collapsed lung and kidney cancer.

A new study from the University of Cambridge has revealed a crucial finding about the FLCN gene – a factor associated with the rare genetic syndrome Birt-Hogg-Dubé, which can cause serious health problems such as increased risk of pneumothorax, partial or complete lung collapse, lung cysts, skin lesions, and kidney cancer.

The FLCN gene may increase the risk of serious health problems. (Source: SciTechDaily.com)

Published on April 8th in Thorax , one of the world's leading journals in respiratory medicine, the study analyzed genetic data from over 550,000 people across three major databases: the UK Biobank, the 100,000 Genomes Project, and East London Genes & Health. The results showed that the prevalence of the FLCN gene variant ranges from 1 in 2,710 to 1 in 4,190, nearly 100 times higher than the previously estimated figure of 1 in 200,000 people.

Notably, the level of health risk among carriers of this gene is not uniform. Among individuals diagnosed with Birt-Hogg-Dubé syndrome, approximately 37% are at risk of pneumothorax. However, this number drops to 28% in the group who only carry the gene but have not yet developed the syndrome. Similarly, the incidence of kidney cancer is 32% in patients with the syndrome, while only about 1% of carriers face this risk.

Professor Stefan Marciniak (University of Cambridge), honorary advisor at Cambridge University Hospitals NHS Foundation Trust and Royal Papworth Hospital NHS Foundation Trust, emphasized that early detection is crucial, especially with two major risk factors: pneumothorax and kidney cancer. He noted that lung problems often begin 10-20 years before signs of kidney cancer appear, therefore, regular screening can help detect and treat them in a timely manner.

Although the link between the FLCN gene and Birt-Hogg-Dubé syndrome is clear, Professor Marciniak also points out that the risk of kidney cancer in carriers who do not have the syndrome is quite low. This suggests that many other genetic factors contribute to regulating how FLCN mutations are expressed in each individual.

This groundbreaking research not only sheds light on the prevalence of the FLCN gene variant but also highlights the urgent need to reconsider screening and treatment strategies for at-risk groups – moving toward a more precise and personalized approach to medicine in the future.

Source: https://baoquocte.vn/phat-hien-loi-gene-lien-quan-xep-phoi-va-ung-thu-than-310712.html