Familial lung cancer: A brief history from the earliestwork to the most recent studies

Anthony M. Musolf, Claire L. Simpson, Mariza De Andrade, Diptasri Mandal, Colette Gaba, Ping Yang, Yafang Li, Ming You, Elena Y. Kupert, Marshall W. Anderson, Ann G. Schwartz, Susan M. Pinney, Christopher I. Amos, Joan E. Bailey-Wilson

Research output: Contribution to journalReview articlepeer-review

12 Scopus citations


Lung cancer is the deadliest cancer in the United States, killing roughly one of four cancer patients in 2016. While it is well-established that lung cancer is caused primarily by environmental effects (particularly tobacco smoking), there is evidence for genetic susceptibility. Lung cancer has been shown to aggregate in families, and segregation analyses have hypothesized a major susceptibility locus for the disease. Genetic association studies have provided strong evidence for common risk variants of small-to-moderate effect. Rare and highly penetrant alleles have been identified by linkage studies, including on 6q23–25. Though not common, some germline mutations have also been identified via sequencing studies. Ongoing genomics studies aim to identify additional high penetrance germline susceptibility alleles for this deadly disease.

Original languageEnglish (US)
Article number36
Issue number1
StatePublished - Jan 17 2017


  • Family studies
  • Linkage
  • Lung cancer
  • Major gene
  • Susceptibility

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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