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The Pathologist / Issues / 2021 / Apr / Weighing Up the Genetic Risk of Lung Cancer
Oncology Genetics and epigenetics Oncology Molecular Pathology

Weighing Up the Genetic Risk of Lung Cancer

Investigating rare genetic variants’ contribution to lung cancer susceptibility

By Liv Gaskill 04/27/2021 Quick Read (pre 2022) 1 min read

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Researchers have previously investigated risk genes for lung cancer – but we still don’t fully understand how these genes contribute to an individual’s likelihood of the disease. Now, a team at Baylor College of Medicine have used whole exome sequencing and targeted sequencing on high-risk lung cancer cases with the highest genetic predisposition to the disease – for example, early onset or family history of lung cancer (1).

They identified 25 rare deleterious variants associated with an increased risk of lung cancer. Five variants were validated, two of which mapped to genes with a known association with lung cancer susceptibility (ATM and MPZL2) and three to novel susceptibility genes (POMC, STAU2, and MLNR).

Endogenous DNA damage assays further supported the genes’ role in lung cancer susceptibility. “We found that dysregulation or mutations in these candidate genes showed increased DNA damage, suggesting that their potential cancer-causing role might be due to genome instability at the DNA level,” said Jun Xia, co-first author of the study (2).

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References

  1. Y Liu et al., NPJ Precis Oncol, 5, 12 (2021). PMID: 33594163.
  2. M Chiu (2021). Available at: https://bit.ly/3nbjcLD.

About the Author(s)

Liv Gaskill

During my undergraduate degree in psychology and Master’s in neuroimaging for clinical and cognitive neuroscience, I realized the tasks my classmates found tedious – writing essays, editing, proofreading – were the ones that gave me the greatest satisfaction. I quickly gathered that rambling on about science in the bar wasn’t exactly riveting for my non-scientist friends, so my thoughts turned to a career in science writing. At Texere, I get to craft science into stories, interact with international experts, and engage with readers who love science just as much as I do.

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