A rare inherited mutation in the Epidermal Growth Factor Receptor gene increases lung cancer risk significantly in never-smokers, according to a study published in Science that evaluated data from over 3.3 million people in the 23andMe genetic database, offering new potential for targeted medical screenings beyond traditional smoking histories.
Genetic Variant Drives Lung Cancer Risk in Never-Smokers
Up to 20% of patients with lung cancer have never smoked. According to researchers at the Dana-Farber Cancer Institute in Boston, a rare inherited mutation known as EGFR T790M associates with an overall 25-fold increased risk of lung cancer across populations.
Among smokers, the mutation corresponds to 10 times higher odds of developing the disease. However, among never-smokers, carriers of the variant are more than 60 times as likely to develop lung cancer compared to people without the mutation, according to findings in Science.
Did you know? The EGFR T790M variant was first identified in 2005 in a European family with multiple cases of lung cancer, and researchers report it has since appeared in other families exhibiting unusually high rates of the disease.
Shifting Beyond Smoking History in Cancer Screenings
Current medical screening protocols for lung cancer rely almost entirely on a patient’s smoking history. Dr. Jaclyn LoPiccolo of the Dana-Farber Cancer Institute stated that these new findings raise the possibility that future screening guidelines could also be dictated by inherited genetic risk.
To put these figures into perspective, data from the National Cancer Institute published in Nature Genetics highlights that lung cancer remains the leading cause of cancer-related deaths worldwide, diagnosing more than 2 million people annually. While environmental factors like secondhand tobacco smoke, radon, and air pollution account for some cases in non-smokers, genomic analyses continue to uncover distinct biological subtypes.
Dr. Pasi A. Jänne, a study co-author at Dana-Farber, noted that while researchers have long known some families inherit an increased risk, the rarity of the variant previously prevented accurate measurement of that specific risk until researchers utilized the massive 3.3 million person database.
Personalized Monitoring Through Programs Like INHERIT
To address the monitoring gap for individuals carrying these genetic markers, Dr. LoPiccolo is conducting a study called INHERIT. This initiative includes participants nationwide who carry inherited genetic risks for lung cancer, including the EGFR T790M mutation.
Doctors work with participants to analyze family history, smoking history, genetic profiles, and environmental exposures. The goal is to establish personalized plans utilizing low-dose CT scans to detect lung cancer at the earliest, most curable stages before it advances to later stages.
Reducing Pain in Common Gynecological Procedures
In related clinical news reported in JAMA, researchers have identified a simple intervention to reduce the discomfort associated with intra-uterine device (IUD) insertions, a standard birth control procedure traditionally performed without pain management.
In a trial of 370 women who had never given birth, half received a small amount of the local anesthetic mepivacaine introduced into the uterus via a thin plastic catheter minutes before the procedure, while the control group received saline.
On a pain scale from 0 to 100, the average pain score measured 43.8 with mepivacaine compared to 58.6 with the placebo. Furthermore, the proportion of participants finding the pain tolerable increased from 91.4% with saline to 98.3% with the local anesthetic.
“Considering the frequency of IUD placements worldwide, even modest reductions in the proportion of individuals experiencing intolerable pain may have important clinical implications,” the researchers stated in their report.
Frequently Asked Questions
What is the EGFR T790M mutation?
It is a rare inherited genetic mutation in the Epidermal Growth Factor Receptor gene associated with a significantly increased risk of developing lung cancer, particularly among never-smokers.
How does the mutation affect non-smokers?
According to research published in Science, carriers of the EGFR T790M mutation who have never smoked are more than 60 times as likely to develop lung cancer compared to individuals without the variant.
Can local anesthetics reduce IUD insertion pain?
Yes. A trial published in JAMA demonstrated that administering a small amount of mepivacaine via a catheter prior to the procedure significantly lowered average patient pain scores.
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