Genetic mutations discovered in non-smoking lung cancer patients

In one of the cruelest ironies of life, people who never smoke can get lung cancer. But now researchers have taken the first step toward fighting the deadly disease in this subclass of patients.

Scientists with the Translational Genomics Research Institute have begun to identify genetic mutations and cellular pathway changes that lead to lung cancer in certain people. Identifying these mutations is important, the researchers note, because they can eventually give drug developers targets to hit with potential treatments. The research team presented details at the Molecular Origins of Lung Cancer: Biology, Therapy and Personalized Medicine conference this week in San Diego.

Some perspective first: The initial study was tiny, looking at just three female patients. One had never smoked and had early-stage cancer, the second had never smoked and suffered from late-stage lung cancer. The third--in comparison--was a smoker with early-stage lung cancer. (A never-smoker for the study was defined as someone who smoked less than 100 cigarettes ever.)

Their data gathering tools: Whole genome sequencing and whole transcriptome sequencing to identify gene mutations or pathway alterations that could have contributed to their lung cancers.

It turns out the patient who hadn't smoked and had late-stage lung cancer had mutations in "classic" tumor suppressor genes, a possible factor in the disease. Both patients who had never smoked also had something that lung cancer patients lacked: alternations in common genes typically associated with the disease. Next, the research team is validating its results with a larger patient pool.

- here's the release

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