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Published ahead of print on September 1, 2005, doi:10.1164/rccm.200502-235PP

Am. J. Respir. Crit. Care Med., Volume 173, Number 1, January 2006, 16-22

A more recent version of this article appeared on January 1, 2006
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Submitted on February 14, 2005
Accepted on August 31, 2005

Familial Lung Cancer: Genetic Susceptibility and Relationship to COPD

Ann G Schwartz1* and John C Ruckdeschel1

1 Population Studies and Prevention Program, Karmanos Cancer Institute and Department of Internal Medicine, Wayne State University, Detroit, MI, USA

* To whom correspondence should be addressed. E-mail: schwarta{at}med.wayne.edu.

Lung cancer continues to be the leading cause of cancer death and while most lung cancer is attributable to cigarette smoking, underlying genetic susceptibility is suggested by studies demonstrating familial aggregation. The first family linkage study of lung cancer has identified linkage of lung, laryngeal and pharyngeal cancer in families to a region on chromosome 6q23-25. Because lung cancer and COPD are known to aggregate in families beyond shared risk associated with smoking, the linkage results are compared and contrasted with results from genome-wide linkage and association studies and candidate gene studies searching for genes for lung cancer, lung function and COPD. Linkage on chromosome 6q to both lung cancer and lung function and on 12 to lung cancer, COPD and lung function, along with overlap in candidate genes for these outcomes, suggests that future research into underlying genetic mechanisms of lung disease would benefit from broadening the collection of family history data and better defining the "high risk" population. As familial risk of lung disease is better defined, referral into screening programs and prevention trials can be better targeted to reach families with both a history of lung cancer and COPD.


Key words: Lung cancer,COPD, Genetics, Linkage




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