Familial Lung Cancer: A Brief History from the Earliest Work to the Most Recent Studies

Anthony M Musolf¹, Claire L Simpson^{2

3}, Mariza de Andrade⁴, Diptasri Mandal⁵, Colette Gaba⁶, Ping Yang⁷, Yafang Li⁸, Ming You⁹, Elena Y Kupert¹⁰, Marshall W Anderson¹¹, Ann G Schwartz¹², Susan M Pinney¹³, Christopher I Amos¹⁴, Joan E Bailey-Wilson¹⁵

Affiliations

¹ National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA. musolfam@mail.nih.gov.
² National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA. clairelsimpson@uthsc.edu.
³ Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN 38103, USA. clairelsimpson@uthsc.edu.
⁴ Mayo Clinic, Rochester, MN 55904, USA. mandrade@mayo.edu.
⁵ Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA. dmanda@lsuhsc.edu.
⁶ Department of Medicine, University of Toledo Dana Cancer Center, Toledo, OH 43604, USA. colette.gaba@utoledo.edu.
⁷ Mayo Clinic, Rochester, MN 55904, USA. yang.ping@mayo.edu.
⁸ Geisel School of Medicine, Dartmouth College, Lebanon, NH 03766, USA. yafang.li@dartmouth.edu.
⁹ Cancer Center, Medical College of Wisconsin, Milwaukee, WI 53202, USA. myou@mcw.edu.
¹⁰ Cancer Center, Medical College of Wisconsin, Milwaukee, WI 53202, USA. elenakupert@gmail.com.
¹¹ Cancer Center, Medical College of Wisconsin, Milwaukee, WI 53202, USA. andermw@ucmail.uc.edu.
¹² Karmanos Cancer Institute, Wayne State University, Detroit, MI 48226, USA. schwarta@karmanos.org.
¹³ Department of Environmental Health, University of Cincinnati College of Medicine, Cincinnati, OH 45202, USA. pinneysm@ucmail.uc.edu.
¹⁴ Geisel School of Medicine, Dartmouth College, Lebanon, NH 03766, USA. christopher.i.amos@dartmouth.edu.
¹⁵ National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA. jebw@mail.nih.gov.

PMID: 28106732
PMCID: PMC5295030
DOI: 10.3390/genes8010036

Review

Familial Lung Cancer: A Brief History from the Earliest Work to the Most Recent Studies

Anthony M Musolf et al. Genes (Basel). 2017.

. 2017 Jan 17;8(1):36.

doi: 10.3390/genes8010036.

Authors

Affiliations

¹ National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA. musolfam@mail.nih.gov.
² National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA. clairelsimpson@uthsc.edu.
³ Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN 38103, USA. clairelsimpson@uthsc.edu.
⁴ Mayo Clinic, Rochester, MN 55904, USA. mandrade@mayo.edu.
⁵ Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA. dmanda@lsuhsc.edu.
⁶ Department of Medicine, University of Toledo Dana Cancer Center, Toledo, OH 43604, USA. colette.gaba@utoledo.edu.
⁷ Mayo Clinic, Rochester, MN 55904, USA. yang.ping@mayo.edu.
⁸ Geisel School of Medicine, Dartmouth College, Lebanon, NH 03766, USA. yafang.li@dartmouth.edu.
⁹ Cancer Center, Medical College of Wisconsin, Milwaukee, WI 53202, USA. myou@mcw.edu.
¹⁰ Cancer Center, Medical College of Wisconsin, Milwaukee, WI 53202, USA. elenakupert@gmail.com.
¹¹ Cancer Center, Medical College of Wisconsin, Milwaukee, WI 53202, USA. andermw@ucmail.uc.edu.
¹² Karmanos Cancer Institute, Wayne State University, Detroit, MI 48226, USA. schwarta@karmanos.org.
¹³ Department of Environmental Health, University of Cincinnati College of Medicine, Cincinnati, OH 45202, USA. pinneysm@ucmail.uc.edu.
¹⁴ Geisel School of Medicine, Dartmouth College, Lebanon, NH 03766, USA. christopher.i.amos@dartmouth.edu.
¹⁵ National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA. jebw@mail.nih.gov.

PMID: 28106732
PMCID: PMC5295030
DOI: 10.3390/genes8010036

Abstract

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.

Keywords: family studies; linkage; lung cancer; major gene; susceptibility.

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Conflict of interest statement

The authors declare no conflict of interest.

References

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Familial Lung Cancer: A Brief History from the Earliest Work to the Most Recent Studies

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Familial Lung Cancer: A Brief History from the Earliest Work to the Most Recent Studies

Authors

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Abstract

Conflict of interest statement

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