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Mutated Gene Increases Lung Cancer Risk for Women

Update Date: Mar 24, 2014 11:33 AM EDT

According to a new study, an inheritable mutated gene could greatly increase a woman's risk of lung cancer even if smoking is not a contributing factor. The researchers from the University of Texas Southwestern Medical Center located in Dallas stated that this genetic lung cancer risk is higher than the risk caused by heaving smoking.

The research team composed of Dr. Adi Gazdar, Professor of Pathology and Deputy Director for the Nancy B. and Jake L. Hamon Center for Therapeutic Oncology Research at UT Southwestern and Dr. Joan Schiller, Professor and Chief of the Division of Hematology-Oncology in Internal Medicine and Deputy Director of UT Southwestern's Harold C. Simmons Comprehensive Cancer Center examined one young female patient who was diagnosed with lung cancer. The team also examined five-generations of the woman's family.

The researchers identified the rare genetic mutation called the T790M mutation, which affects the epidermal growth factor receptor gene, EGFR. Researchers calculated that women in particular who have this mutation have a one in three chance of developing lung cancer even if they do not smoke. An average, heavy smoker's risk of developing lung cancer is one in eight.

The mutation was first identified in the woman's lung cancer. It then showed up in her bloodstream. After closer examination of the patient and her family members, the researchers concluded that the mutation appeared to be passed down on the mother's side of the family.

"Fortunately the mutation, which is extremely rare, can be detected by a blood test. Only people suspected of having the mutation and their family members need to be tested for the mutation," said Dr. Gazdar reported by Medical Xpress. "This is a very rare inherited mutation in the general population, but because it confers a greatly increased risk of developing lung cancer, it is present in about one in every hundred lung cancer cases."

The researchers stated their findings could prompt doctors to screen patients who might have this genetic mutation. By identifying who has a greater risk of developing lung cancer, doctors and experts can develop a better way of managing these patients and their risk of lung cancer.

The study was published in the Journal of Thoracic Oncology.

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