Study Investigates on Rare Genetic Variants that Increase Lung Cancer Risk

Lung CancerIn US, lung cancer is one of the leading causes of cancer deaths among both men and women. The risk of this disease lies mainly with lifestyle factors like smoking and environmental surroundings. But, the studies have also estimated that about 18% of lung cancer cases are due to inherited genetic variants. A new research has been led by Baylor College of Medicine to find out how the genetic variants contribute towards the increased lung cancer risk. In this study, they performed whole exome sequencing on germline DNA from eight large-scale datasets including 1045 patients. These patients include those having a family history of lung cancer or early-onset cancer.

According to the co-first author of the study, Dr. Yanhong Liu, “Mutations of DNA where sections are either inserted or deleted have been understudied compared to single nucleotide variants, but they are also very important because they can result in truncated proteins.” “Of the 25 candidate variants we identified, two-thirds of them are insertions or deletions,” he added.

The researchers in this research have identified 25 new rare pathogenic variants which are associated with lung cancer susceptibility. Also, they validated five of those variants of which two involved genes with known connections to lung cancer risk, ATM and MPZL2. The other three variants that involved novel lung cancer susceptibility genes were POMC, STAU2 and MLNR.

They applied endogenous DNA damage assays to test for replications of certain types of mutations in DNA. The researchers have found that dysregulation or mutations in these candidate genes showed increased DNA damage which suggests that the genome instability at DNA level might be the reason for their potential cancer-causing role.  Their analysis showed that POMC, ATM and MLNR variants led to increased levels of DNA damage. The understanding of the variants that cause increased DNA damage could play a pivotal role in unlocking treatment for lung cancer.


The information shared in this blog is for educational purposes only.


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