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Gene mutation linked to lung cancer risk

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Carriers of alpha₁-antitrypsin deficiency may be at a 70% to 100% greater risk for lung carcinoma than non-carriers.

To determine the link between alpha₁-antitrypsin deficiency and the risk for lung carcinoma, researchers from the Mayo Clinic in Rochester used a dual case-control design to examine 1,443 patients with lung cancer. Community members without lung cancer (n=797) and siblings of patients with lung cancer (n=902) were included as controls.

When compared with non-relative controls, alpha₁-antitrypsin deficiency carriers were 70% more likely to develop lung cancer, compared with non-carriers (OR=1.7; 95% CI, 1.2-2.4). Their risk was increased two-fold when alpha₁-antitrypsin deficiency carriers were compared with their cancer-free siblings (95% CI, 1.4-2.7).

The researchers conducted a stratified analysis of tumor histologic subtype and found that alpha₁-antitrypsin deficiency carriers had a significantly increased risk for adenocarcinoma and squamous cell carcinoma.

Based on their findings, the researchers concluded that alpha₁-antitrypsin deficiency carriers in this particular study may account for 11% to 12% of patients with lung cancer. – by Stacey L. Adams

Arch Intern Med.2008;168:1097-1103.