Daijiworld Media Network – New Delhi
New Delhi, Sep 20: A rare inherited mutation in the Epidermal Growth Factor Receptor (EGFR) gene is strongly associated with an increased risk of lung cancer, potentially helping doctors identify high-risk individuals who have never smoked, researchers have found.
The study, which analysed genetic data from more than 3.3 million people in the 23andMe database, found that carriers of the EGFR T790M variant had an overall 25-fold higher risk of developing lung cancer.
Among smokers, the mutation was associated with 10 times higher odds of developing the disease. The association was even stronger among people who had never smoked, with carriers found to be more than 60 times as likely to develop lung cancer compared with non-carriers.
Researchers said the findings could eventually lead to lung cancer screening being guided not only by smoking history but also by inherited genetic risk.
“Today, lung cancer screening is driven almost entirely by smoking history,” study leader Dr Jaclyn LoPiccolo of Dana-Farber Cancer Institute in Boston said. She said the findings raise the possibility that screening could in the future also be based on inherited genetic risk.
The variant was not associated with any of the 17 other common cancers examined in the study, suggesting its effects may be largely specific to lung cancer.
EGFR T790M was first identified in 2005 in a European family with multiple cases of lung cancer. Researchers said the variant has since been identified in other families with unusually high rates of the disease.
The study was published in Science.
A simple local anaesthetic technique may make intrauterine device (IUD) insertion significantly less painful, according to a clinical trial involving 370 women who had never given birth.
In the trial, half of the participants received a small amount of the local anaesthetic mepivacaine through a thin plastic catheter placed in the uterus several minutes before the procedure. The remaining participants received saline as a control.
The study, published in JAMA, found that the average pain score during IUD insertion was 43.8 out of 100 among women who received mepivacaine, compared with 58.6 among those given the placebo.
The proportion of participants who considered the pain tolerable increased from 91.4 per cent with saline to 98.3 per cent with the local anaesthetic.
Researchers said the technique is simple and could be used in routine clinical practice. However, they noted that it needs to be compared with other available pain-relief methods.
Dr Helena Kopp Kallner of Karolinska Institutet in Sweden, a co-author of the study, said the findings showed that the method was effective compared with no active treatment, while further comparisons with other pain-management approaches are needed.