Familial lung cancer: genetic susceptibility and relationship to chronic obstructive pulmonary disease

Am J Respir Crit Care Med. 2006 Jan 1;173(1):16-22. doi: 10.1164/rccm.200502-235PP. Epub 2005 Sep 1.


Lung cancer continues to be the leading cause of cancer death, and although 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 chronic obstructive pulmonary disease (COPD) are known to aggregate in families beyond shared risk associated with smoking, the linkage results are compared and contrasted with results from genomewide 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, together 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.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Humans
  • Lung Neoplasms / complications
  • Lung Neoplasms / genetics*
  • Pulmonary Disease, Chronic Obstructive / complications
  • Pulmonary Disease, Chronic Obstructive / genetics*