Skip to Main Content

An official website of the United States government

Government Funding Lapse

Because of a lapse in government funding, the information on this website may not be up to date, transactions submitted via the website may not be processed, and the agency may not be able to respond to inquiries until appropriations are enacted. The NIH Clinical Center (the research hospital of NIH) is open. For more details about its operating status, please visit  cc.nih.gov. Updates regarding government operating status and resumption of normal operations can be found at OPM.gov.

Inherited variation at chromosome 12p13.33, including RAD52, influences the risk of squamous cell lung carcinoma.

About this Publication
Title
Inherited variation at chromosome 12p13.33, including RAD52, influences the risk of squamous cell lung carcinoma.
Pubmed ID
22585858 (View this publication on the PubMed website)
Publication
Cancer Discov. 2012 Feb; Volume 2 (Issue 2): Pages 131-9
Authors
Shi J, Chatterjee N, Rotunno M, Wang Y, Pesatori AC, Consonni D, Li P, Wheeler W, Broderick P, Henrion M, Eisen T, Wang Z, Chen W, Dong Q, Albanes D, Thun M, Spitz MR, Bertazzi PA, Caporaso NE, Chanock SJ, ...show more Amos CI, Houlston RS, Landi MT
Affiliations
  • Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Department of Health and Human Services, Bethesda, Maryland 20892, USA.
Abstract

Although lung cancer is largely caused by tobacco smoking, inherited genetic factors play a role in its etiology. Genome-wide association studies in Europeans have only robustly demonstrated 3 polymorphic variations that influence the risk of lung cancer. Tumor heterogeneity may have hampered the detection of association signal when all lung cancer subtypes were analyzed together. In a genome-wide association study of 5,355 European ever-smoker lung cancer patients and 4,344 smoking control subjects, we conducted a pathway-based analysis in lung cancer histologic subtypes with 19,082 single-nucleotide polymorphisms mapping to 917 genes in the HuGE-defined "inflammation" pathway. We identified a susceptibility locus for squamous cell lung carcinoma at 12p13.33 (RAD52, rs6489769) and replicated the association in 3 independent studies totaling 3,359 squamous cell lung carcinoma cases and 9,100 controls (OR = 1.20, P(combined) = 2.3 × 10(-8)).

SIGNIFICANCE: The combination of pathway-based approaches and information on disease-specific subtypes can improve the identification of cancer susceptibility loci in heterogeneous diseases.

Related CDAS Studies
Related CDAS Projects