title: Familial Lung Cancer: A Brief History from the Earliest Work to the Most Recent Studies.
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.
authors.affiliation: National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA. musolfam@mail.nih.gov.
authors.forename: Anthony M
authors.initials: AM
authors.lastname: Musolf
authors.affiliation: National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA. clairelsimpson@uthsc.edu.|Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN 38103, USA. clairelsimpson@uthsc.edu.
authors.forename: Claire L
authors.initials: CL
authors.lastname: Simpson
authors.affiliation: Mayo Clinic, Rochester, MN 55904, USA. mandrade@mayo.edu.
authors.forename: Mariza
authors.initials: M
authors.lastname: de Andrade
authors.affiliation: Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA. dmanda@lsuhsc.edu.
authors.forename: Diptasri
authors.initials: D
authors.lastname: Mandal
authors.affiliation: Department of Medicine, University of Toledo Dana Cancer Center, Toledo, OH 43604, USA. colette.gaba@utoledo.edu.
authors.forename: Colette
authors.initials: C
authors.lastname: Gaba
authors.affiliation: Mayo Clinic, Rochester, MN 55904, USA. yang.ping@mayo.edu.
authors.forename: Ping
authors.initials: P
authors.lastname: Yang
authors.affiliation: Geisel School of Medicine, Dartmouth College, Lebanon, NH 03766, USA. yafang.li@dartmouth.edu.
authors.forename: Yafang
authors.initials: Y
authors.lastname: Li
authors.affiliation: Cancer Center, Medical College of Wisconsin, Milwaukee, WI 53202, USA. myou@mcw.edu.
authors.forename: Ming
authors.initials: M
authors.lastname: You
authors.affiliation: Cancer Center, Medical College of Wisconsin, Milwaukee, WI 53202, USA. elenakupert@gmail.com.
authors.forename: Elena Y
authors.initials: EY
authors.lastname: Kupert
authors.affiliation: Cancer Center, Medical College of Wisconsin, Milwaukee, WI 53202, USA. andermw@ucmail.uc.edu.
authors.forename: Marshall W
authors.initials: MW
authors.lastname: Anderson
authors.affiliation: Karmanos Cancer Institute, Wayne State University, Detroit, MI 48226, USA. schwarta@karmanos.org.
authors.forename: Ann G
authors.initials: AG
authors.lastname: Schwartz
authors.affiliation: Department of Environmental Health, University of Cincinnati College of Medicine, Cincinnati, OH 45202, USA. pinneysm@ucmail.uc.edu.
authors.forename: Susan M
authors.initials: SM
authors.lastname: Pinney
authors.affiliation: Geisel School of Medicine, Dartmouth College, Lebanon, NH 03766, USA. christopher.i.amos@dartmouth.edu.
authors.forename: Christopher I
authors.initials: CI
authors.lastname: Amos
authors.affiliation: National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA. jebw@mail.nih.gov.
authors.forename: Joan E
authors.initials: JE
authors.lastname: Bailey-Wilson
keywords: family studies; linkage; lung cancer; major gene; susceptibility