Evidence map›Paper›PMID 41917862›Full record

ArticleBMC cancer2026

Genes associated with genetic and rare lung diseases and the risk of lung cancer.

Albert Rosenberger, Heike Bickeböller, David C Christiani, Neil E Caporaso, Geoffrey Liu, Stig E Bojesen, Loic Le Marchand, Demetrios Albanes, Melinda C Aldrich, Adonina Tardon and 24 more

Abstract read
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Article in BMC cancer, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

The trial behind it

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3 · Its place in the literature

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

34 authors.

Albert RosenbergerDepartment of Genetic Epidemiology, University Medical Center, GeorgAugust-University Göttingen, Göttingen, Germany. arosenb@gwdg.de.ORCID http://orcid.org/0000-0001-7848-1332
Heike BickeböllerDepartment of Genetic Epidemiology, University Medical Center, GeorgAugust-University Göttingen, Göttingen, Germany.
David C ChristianiDepartment of Environmental Health, Harvard T.H. Chan School of Public Health and Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Neil E CaporasoDivision of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Bethesda, MD, USA.
Geoffrey LiuMedical Oncology and Medical Biophysics, Princess Margaret Cancer Centre, Toronto, ON, Canada.
Stig E BojesenDepartment of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Copenhagen, Denmark.
Loic Le MarchandEpidemiology Program, University of Hawaii Cancer Center, Honolulu, HI, USA.
Demetrios AlbanesDivision of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Bethesda, MD, USA.
Melinda C AldrichDepartment of Thoracic Surgery, Division of Epidemiology, Vanderbilt University Medical Center, Nashville, TN, USA.
Adonina TardonHealth Research Instotute of Asturias (ISPA) and University Nebrija, Asturias, Spain.
Guillermo Fernández-TardónHealth Research Instotute of Asturias (ISPA) and University Nebrija, Asturias, Spain.
Gad RennertClalit National Cancer Control Center at Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel.
John K FieldDepartment of Molecular and Clinical Cancer Medicine, Roy Castle Lung Cancer Research Programme, The University of Liverpool, Liverpool, UK.
Michael P A DaviesDepartment of Molecular and Clinical Cancer Medicine, Roy Castle Lung Cancer Research Programme, The University of Liverpool, Liverpool, UK.
Lambertus A KiemeneyDepartments of IQ Health and Urology, Radboud University Medical Center, Nijmegen, The Netherlands.
Philip LazarusDepartment of Pharmaceutical Sciences, College of Pharmacy, Washington State University, Spokane, WA, USA.
Shanbeh ZienolddinyNational Institute of Occupational Health, Oslo, Norway.
Stephen LamDepartment of Integrative Oncology, University of British Columbia, Vancouver, British Columbia, Canada.
Matthew B SchabathDepartment of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.
Angeline S AndrewDepartment of Epidemiology, Geisel School of Medicine, Hanover, NH, USA.
Susanne M ArnoldUniversity of Kentucky Markey Cancer Center, Lexington, KY, USA.
Gary E GoodmanSwedish Medical Group, Seattle, WA, USA.
Jennifer A DohertyHuntsman Cancer Institute and Department of Population Health Sciences, University of Utah, Salt Lake City, Utah, USA.
Fiona TaylorDepartment of Oncology and Metabolism, University of Sheffield, Sheffield, UK.
Angela CoxDepartment of Oncology and Metabolism, University of Sheffield, Sheffield, UK.
Penella J WollDepartment of Oncology and Metabolism, University of Sheffield, Sheffield, UK.
Angela RischDepartment of Biosciences and Medical Biology, University of Salzburg and Cancer Cluster Salzburg, Salzburg, Austria.
Mikael JohanssonDepartment of Radiation Sciences, Umeå University, Umeå, Sweden.
Paul BrennanInternational Agency for Research on Cancer, World Health Organization, Lyon, France.
Maria Teresa LandiDivision of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Bethesda, MD, USA.
Sanjay S SheteDepartment of Biostatistics, Division of Basic Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Rayjean J HungLunenfeld-Tanenbaum Research Institute, Sinai Health System, University of Toronto, Toronto, Ontario, Canada.
Christopher I AmosThe University of New Mexico Comprehensive Cancer Center, Albuquerque, New Mexico, USA.
INTEGRAL‐ILCCO Consortium

Funding

TRANSLATIONAL RESEARCHP30CA076292 · NCI · UNIVERSITY OF SOUTH FLORIDA · PI John L. Cleveland · 1998 to 2026
$93.5M
Statistical Methods for Analysis of Massive Genetic and Genomic Data in Cancer ResearchR35CA197449 · NCI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI XIHONG LIN · 2015 to 2026
$10.9M
NCI NIH HHS P30 CA076292NCI NIH HHS R35 CA197449
6 · The paper itself

Abstract

backgroundWe investigated whether markers, genes or terms of the Human Phenotype Ontology associated with genetic or rare diseases (GARDs) that affect airway or lung function are associated with lung cancer.

methodsGenes of interest were extracted from GARD (Genetic and Rare Diseases Information Center), OMIM (Online Mendelian Inheritance in Man®), ORPHANET and Monarch Initiative. Individual SNP, gene level and gene-set analyses were performed for 52,207 SNPs, 1677 genes or for 620 terms of the Human Phenotype Ontology. The analysis included 14,068 lung cancer cases and 12,390 cancer-free control subjects of European descent from the International Lung Cancer Consortium ILCCO.

resultsThe marker rs56113850 (OR=0.893, 95%CI: 0.862-0.924) was associated with lung cancer (p=1.2x10-10). This marker is located in CYP2A6 as well as in an enhancer region of LTBP4, which is associated with cutis laxa. A suggestive significant association was observed for two markers associated with the DMD gene, which is linked to Duchenne muscular dystrophy. The gene sets "Abnormal circulating adrenocorticotropin concentration" and "Central nervous system neoplasm" were found to be significantly enriched with GARD genes, and can therefore be considered to be associated with lung cancer.

conclusionsGenes associated with genetic and rare lung diseases do not generally appear to carry risk factors for lung cancer. However, genes associated with the hypothalamic-pituitary-adrenal axis show some, but rather weak or complex, associations with lung cancer. Tests at the gene level provide extremely inhomogeneous results, even when applied to the same data.

Indexed as

Genetic Predisposition to DiseaseLung DiseasesLung NeoplasmsRare DiseasesAryl Hydrocarbon HydroxylasesCase-Control StudiesCholestanetriol 26-MonooxygenaseCytochrome P-450 CYP2A6HumansLatent TGF-beta Binding ProteinsPolymorphism, Single NucleotideRisk FactorsAryl Hydrocarbon HydroxylasesCholestanetriol 26-MonooxygenaseCYP2A6 protein, humanCytochrome P-450 CYP2A6Latent TGF-beta Binding ProteinsLTBP4 protein, humanAdrenocorticotropic hormoneCYP2A6DMDGARDGene-based testGene-set analysisGenomic markerHypothalamic-Pituitary-Adrenal axisLTBP4Lung cancerOMIMOrphanetRare disease

Identifiers

PMID41917862
PMCPMC13063928

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