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Genetic mutation and risk of lung cancer


Genetic mutation and  risk of lung cancer
Carriers of a common genetic disorder previously associated with lung disease may have a 70-percent to 100-percent increased risk of lung cancer, as per a report in the May 26 issue of Archives of Internal Medicine, one of the JAMA/Archives journals.

The disorder, alpha1-antitrypsin deficiency (1ATD), is one of the most common genetic conditions affecting the U.S. population and particularly those of European descent, as per background information in the article. Individuals with two copies of the associated genetic mutation often develop emphysema at an early age. However, 1ATD carriersthose with only one copy of the mutated genedo not normally have severe diseases correlation to 1ATD and may not be aware of their status. However, they may be more vulnerable to cancer-causing tobacco smoke than non-carriers.

Ping Yang, M.D., Ph.D., and his colleagues at the Mayo Clinic, Rochester, Minn., tested for 1ATD carrier status in 1,443 lung cancer patients. In addition, 797 community members without lung cancer and 902 siblings of patients with lung cancer were tested as controls. Information was gathered about all participants smoking history, demographic characteristics and family history of cancer.

A total of 13.4 percent of the patients with lung cancer and 7.8 percent of unrelated controls were 1ATD carriers. When lung cancer patients were in comparison to non-related controls, 1ATD carriers had a 70 percent higher risk of developing lung cancer than non-carriers. Comparing lung cancer patients to their cancer-free siblings, 1ATD carriers had twice the risk of developing lung cancer. The scientists estimated that 1ATD carrier status may account for 11 percent to 12 percent of the lung cancer patients enrolled in the study.

Among those who had never smoked, 1ATD carrier status was linked to a 2.2-fold higher risk of lung cancer, with a 2-fold increased risk among light smokers and a 2.3-fold increased risk among moderate to heavy smokers. Patients with a family history of lung cancer or other cancers in their first-degree relatives had a similar 1ATD carrier rate to those without such a family history, all significantly higher than the controls, the authors write. This finding suggests that increased lung cancer risk among 1ATD carriers is independent of a family history of cancer.

In summary, our findings demonstrate a paradigm in lung cancer etiology research and risk assessment that incorporates clinical and genetic markers for lung damage into a gene-environment interaction, they conclude. This knowledge may prove to be useful in further understanding the pathologic mechanisms of lung cancer development and in refining lung cancer risk assessment.


Posted by: Justin234    Source