WASHINGTON: Scientists have identified an inherited genetic mutation that can raise a person’s risk of developing lung cancer by about 25 times, according to a new study of more than 3.3 million people. Among nonsmokers, the increase is even more dramatic, with the gene raising lung cancer risk some 60 times.For the new study, researchers analysed data from more than 3.3 million people who sent off a DNA sample to the ancestry and genetics company 23andMe. The mutation, called eGFR T790M, turned up in about 1 of every 15,850 people.Carriers had roughly 25 times the odds of developing lung cancer compared with noncarriers. The risk was even higher in people who had never smoked, at about 62 times the odds, versus roughly 11 times among those who had ever smoked."We’ve known about germline eGFR T790M [mutation] from individual patients and families for years, but the mutation is so rare that we needed to study millions of people to quantify just how strong that risk is,” says lead study author Jaclyn LoPiccolo, MD, PhD, an attending physician and lung cancer researcher at the Dana-Farber Cancer Institute in Boston.But Dr. LoPiccolo cautions against reading the odds as a prediction for any one carrier. "It does not mean someone will definitely develop lung cancer. The study does not yet provide a precise lifetime risk,” she says.The mutation occurs in a gene called eGFR, short for epidermal growth factor receptor, which is already known to play a role in many lung cancers, says Goldberg."What makes this version unusual is that it’s inherited, or ‘germline,’ meaning it’s present in every cell in a person’s body from birth and can be passed down through a family,” she says.Researchers hope the findings could one day help identify people at high risk of lung cancer who don’t fit the traditional profile.
