Evidence map›Paper›PMID 24880342›Full record

ArticleNature genetics2014

Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.

Yufei Wang, James D McKay, Thorunn Rafnar, Zhaoming Wang, Maria N Timofeeva, Peter Broderick, Xuchen Zong, Marina Laplana, Yongyue Wei, Younghun Han and 73 more

Erratum issued Registry-linked trialOpen access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT06181812 (Prevalence of Pathogenic or Likely Pathogenic Germline Variants in Cancer Predisposition Genes Among Patients With Lung Adenocarcinoma), which is not on this map. Cited by 297 papers, 19 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
297citing papers in PubMed, 19 pooled it
25.9field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT06181812 recruitingnot on this mapstarted 2022, after this paper: background citation

Prevalence of Pathogenic or Likely Pathogenic Germline Variants in Cancer Predisposition Genes Among Patients With Lung Adenocarcinoma

TypeobservationalSponsorOscar Gerardo Arrieta RodríguezRan2022 to 2027Enrolled332ConditionsLung Adenocarcinoma
3 · Its place in the literature

Who cites it

297 citing papers in PubMed, 19 syntheses or guidelines pooled it, 479 citations in OpenAlex.

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  2. Assessing the causal effects of environmental tobacco smoke exposure: a meta-analytic Mendelian randomization study.Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco · 2026
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  17. The Shared Genetic Architectures Between Lung Cancer and Multiple Polygenic Phenotypes in Genome-Wide Association Studies.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2021
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  20. Article

237 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

83 authors at 20 institutions in 20 countries.

Yufei Wang1] Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK. [2].
James D McKay1] International Agency for Research on Cancer (IARC, World Health Organization (WHO)), Lyon, France. [2] [3].
Thorunn RafnardeCODE Genetics, Amgen, Reykjavik, Iceland.
Zhaoming WangDepartment of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.
Maria N TimofeevaInternational Agency for Research on Cancer (IARC, World Health Organization (WHO)), Lyon, France.
Peter BroderickDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK.
Xuchen ZongLunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
Marina LaplanaDivision of Epigenomics and Cancer Risk Factors, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Yongyue WeiDepartment of Environmental Health, Harvard School of Public Health, Boston, Massachusetts, USA.
Younghun HanCenter for Genomic Medicine, Department of Community and Family Medicine, Geisel School of Medicine, Dartmouth College, Lebanon, New Hampshire, USA.
Amy LloydDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK.
Manon Delahaye-SourdeixInternational Agency for Research on Cancer (IARC, World Health Organization (WHO)), Lyon, France.
Daniel ChubbDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK.
Valerie GaborieauInternational Agency for Research on Cancer (IARC, World Health Organization (WHO)), Lyon, France.
William WheelerInformation Management Services, Inc., Rockville, Maryland, USA.
Nilanjan ChatterjeeDepartment of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.
Gudmar ThorleifssondeCODE Genetics, Amgen, Reykjavik, Iceland.
Patrick SulemdeCODE Genetics, Amgen, Reykjavik, Iceland.ORCID 0000000171236123
Geoffrey LiuPrincess Margaret Hospital, University Health Network, Toronto, Ontario, Canada.
Rudolf Kaaks1] Division of Cancer Epidemiology, DKFZ, Heidelberg, Germany. [2] Translational Lung Research Center Heidelberg (TLRC-H), Member of the German Center for Lung Research (DZL), Heidelberg, Germany.
Marc HenrionDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK.
Ben KinnersleyDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK.
Maxime ValléeInternational Agency for Research on Cancer (IARC, World Health Organization (WHO)), Lyon, France.
Florence LeCalvez-KelmInternational Agency for Research on Cancer (IARC, World Health Organization (WHO)), Lyon, France.
Victoria L StevensEpidemiology Research Program, American Cancer Society, Atlanta, Georgia, USA.
Susan M GapsturEpidemiology Research Program, American Cancer Society, Atlanta, Georgia, USA.
Wei V ChenDepartment of Genetics, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
David ZaridzeInstitute of Carcinogenesis, Russian N.N. Blokhin Cancer Research Centre, Moscow, Russia.
Neonilia Szeszenia-DabrowskaDepartment of Epidemiology, Institute of Occupational Medicine, Lodz, Poland.
Jolanta LissowskaThe M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland.
Peter RudnaiNational Institute of Environmental Health, Budapest, Hungary.
Eleonora FabianovaRegional Authority of Public Health, Banská Bystrica, Slovak Republic.
Dana MatesNational Institute of Public Health, Bucharest, Romania.
Vladimir Bencko1st Faculty of Medicine, Institute of Hygiene and Epidemiology, Charles University in Prague, Prague, Czech Republic.
Lenka ForetovaDepartment of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.
Vladimir JanoutPalacky University, Olomouc, Czech Republic.
Hans E KrokanDepartment of Laboratory Medicine, Children's and Women's Health, Norwegian University of Science and Technology, Trondheim, Norway.
Maiken Elvestad GabrielsenDepartment of Laboratory Medicine, Children's and Women's Health, Norwegian University of Science and Technology, Trondheim, Norway.
Frank SkorpenDepartment of Laboratory Medicine, Children's and Women's Health, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway.
Lars VattenDepartment of Public Health and General Practice, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway.
Inger NjølstadDepartment of Community Medicine, University of Tromsø, Tromsø, Norway.
Chu ChenFred Hutchinson Cancer Research Center, Seattle, Washington, USA.
Gary GoodmanFred Hutchinson Cancer Research Center, Seattle, Washington, USA.
Simone BenhamouINSERM U946, Paris, France.
Tonu VooderInstitute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
Kristjan VälkDepartment of Biomedicine, University of Bergen, Bergen, Norway.
Mari Nelis1] Estonian Genome Center, Institute of Molecular and Cell Biology, Tartu, Estonia. [2] Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
Andres MetspaluEstonian Genome Center, Institute of Molecular and Cell Biology, Tartu, Estonia.
Marcin LenerDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
Jan LubińskiDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
Mattias JohanssonInternational Agency for Research on Cancer (IARC, World Health Organization (WHO)), Lyon, France.
Paolo Vineis1] Department of Epidemiology and Biostatistics, School of Public Health, Imperial College, London, UK. [2] Unit of Molecular and Genetic Epidemiology, HuGeF Foundation, Torino, Italy.
Antonio AgudoUnit of Nutrition, Environment and Cancer, Cancer Epidemiology Research Program, Catalan Institute of Oncology, Barcelona, Spain.
Francoise Clavel-Chapelon1] INSERM, Centre for Research in Epidemiology and Population Health (CESP), U1018, Nutrition, Hormones and Women's Health Team, Villejuif, France. [2] Université Paris Sud, UMRS 1018, Villejuif, France. [3] Institut Gustave Roussy, Villejuif, France.
H Bas Bueno-de-Mesquita1] Department of Epidemiology and Biostatistics, School of Public Health, Imperial College, London, UK. [2] National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands. [3] Department of Gastroenterology and Hepatology, University Medical Centre, Utrecht, The Netherlands.
Dimitrios Trichopoulos1] Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA. [2] Bureau of Epidemiologic Research, Academy of Athens, Athens, Greece. [3] Hellenic Health Foundation, Athens, Greece.
Kay-Tee KhawUniversity of Cambridge School of Clinical Medicine, Clinical Gerontology Unit, Addenbrooke's Hospital, Cambridge, UK.
Mikael JohanssonDepartment of Radiation Sciences, Umeå Universitet, Umeå, Sverige, Sweden.
Elisabete Weiderpass1] Department of Community Medicine, Faculty of Health Sciences, University of Tromsø, Tromsø, Norway. [2] Department of Research, Cancer Registry of Norway, Oslo, Norway. [3] Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden. [4] Samfundet Folkhälsan, Helsinki, Finland.
Anne TjønnelandDanish Cancer Society Research Center, Copenhagen, Denmark.
Elio RiboliDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College, London, UK.
Mark LathropCentre d'Etude du Polymorphisme Humain (CEPH), Paris, France.
Ghislaine SceloInternational Agency for Research on Cancer (IARC, World Health Organization (WHO)), Lyon, France.
Demetrius AlbanesDepartment of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.
Neil E CaporasoDepartment of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.
Yuanqing YeDepartment of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Jian GuDepartment of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Xifeng WuDepartment of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Margaret R SpitzDan L. Duncan Cancer Center, Baylor College of Medicine, Houston, Texas, USA.
Hendrik Dienemann1] Translational Lung Research Center Heidelberg (TLRC-H), Member of the German Center for Lung Research (DZL), Heidelberg, Germany. [2] Department of Thoracic Surgery, Thoraxklinik at University Hospital Heidelberg, Heidelberg, Germany.
Albert RosenbergerDepartment of Genetic Epidemiology, University of Göttingen, Göttingen, Germany.
Li SuDepartment of Environmental Health, Harvard School of Public Health, Boston, Massachusetts, USA.
Athena MatakidouCancer Research UK Cambridge Institute, Li Ka Shing Centre, Cambridge, UK.
Timothy Eisen1] Department of Oncology, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge, UK. [2] Addenbrooke's Hospital, Cambridge Biomedical Campus, Cambridge, UK.
Kari StefanssondeCODE Genetics, Amgen, Reykjavik, Iceland.
Angela Risch1] Division of Epigenomics and Cancer Risk Factors, German Cancer Research Center (DKFZ), Heidelberg, Germany. [2] Translational Lung Research Center Heidelberg (TLRC-H), Member of the German Center for Lung Research (DZL), Heidelberg, Germany.
Stephen J ChanockDepartment of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.
David C ChristianiDepartment of Environmental Health, Harvard School of Public Health, Boston, Massachusetts, USA.
Rayjean J HungLunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
Paul BrennanInternational Agency for Research on Cancer (IARC, World Health Organization (WHO)), Lyon, France.
Maria Teresa Landi1] Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA. [2] [3].
Richard S Houlston1] Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK. [2] [3].
Christopher I Amos1] Center for Genomic Medicine, Department of Community and Family Medicine, Geisel School of Medicine, Dartmouth College, Lebanon, New Hampshire, USA. [2] [3].
Centre international de recherche sur le cancer · FRInstitute of Cancer Research · GBNational Institutes of Health · USdeCODE Genetics (Iceland) · ISNorwegian University of Science and Technology · NOThe University of Texas MD Anderson Cancer Center · USAmerican Cancer Society · USDartmouth College · USFred Hutch Cancer Center · USGerman Cancer Research Center · DEHeidelberg University · DEInternational Hereditary Cancer Center · PLMount Sinai Hospital · CABaylor College of Medicine · USCancer Registry of Norway · NOCancer Research UK Cambridge Center · GBCharles University · CZDanish Cancer Society · DKEstonian Biocentre · EEFondation Jean Dausset-CEPH · FR

Funding

Tumor Evolution and Metastasis ProgramP30CA016672 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI Scott Kopetz · 1985 to 2026
$290.8M
Translational Engineering in Cancer (TEC)P30CA023108 · NCI · DARTMOUTH COLLEGE · PI Steven D Leach · 1985 to 2026
$91.3M
UNIVERSITY OF TEXAS--SPORE IN LUNG CANCERP50CA070907 · NCI · UT SOUTHWESTERN MEDICAL CENTER · PI GIBBONS, DON LYNN · 1996 to 2024
$57.4M
JH/CIDR Genotyping for Genome-Wide Association StudiesU01HG004438 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2007 to 2011
$24.2M
THE CAROTENE AND RETINOL EFFICACY TRIAL (CARET)U01CA063673 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI GOODMAN, GARY E · 1994 to 2006
$13.0M
Translational studies of Hsp90 inhibitors in NSCLCP50CA090578 · NCI · DANA-FARBER CANCER INST · PI JOHNSON, BRUCE D · 2008 to 2012
$11.4M
Transdisciplinary Research in Cancer of the Lung (TRICL)U19CA148127 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI AMOS, CHRISTOPHER I., LE MARCHAND, LOIC · 2010 to 2014
$10.9M
Genes contributing to nicotine dependence in humansR01DA017932 · NIDA · DECODE GENETICS, INC. · PI STEFANSSON, KARI · 2005 to 2015
$9.6M
Quantitative Biology Research InstituteP20GM103534 · NIGMS · DARTMOUTH COLLEGE · PI AMOS, CHRISTOPHER I. · 2012 to 2016
$8.6M
PROSTATE, LUNG, COLORECTAL, &OVARIAN CANCER SCREENINGN01CN025476 · CN · WESTAT, INC. · PI O'BRIEN, BARBARA B · 1992 to 2000
$7.9M
Genome Wide Association Coordinating CenterU01HG004446 · NHGRI · UNIVERSITY OF WASHINGTON · PI WEIR, BRUCE S. · 2007 to 2011
$6.6M
Molecular and Genetic Analysis of Lung Cancer SurvivalR01CA092824 · NCI · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI CHRISTIANI, DAVID C · 2002 to 2013
$5.9M
Cancer Research UK 14136Cancer Research UK 15116Cancer Research UK A8362Cancer Research UK A8780Cancer Research UK C1298/A8362Cancer Research UK C1298/A8780CCR NIH HHS N01 RC037004CCR NIH HHS N01-RC-45035Intramural NIH HHSMedical Research Council G0401527Medical Research Council G1000143NCI NIH HHS 5R01CA121197NCI NIH HHS 5R01CA127219NCI NIH HHS 5R01CA133996NCI NIH HHS CA074386NCI NIH HHS CA090578NCI NIH HHS CA092824NCI NIH HHS N01 CN025404NCI NIH HHS N01 CN025476NCI NIH HHS N01 CN025511NCI NIH HHS N01 CN025512NCI NIH HHS N01 CN025513NCI NIH HHS N01 CN025514NCI NIH HHS N01 CN025515NCI NIH HHS N01 CN025516NCI NIH HHS N01 CN025518NCI NIH HHS N01 CN025524NCI NIH HHS N01 CN045165NCI NIH HHS N01 CN075022NCI NIH HHS N01-CN-25404NCI NIH HHS N01-CN-25476NCI NIH HHS N01-CN-25511NCI NIH HHS N01-CN-25512NCI NIH HHS N01-CN-25513NCI NIH HHS N01-CN-25514NCI NIH HHS N01-CN-25515NCI NIH HHS N01-CN-25516NCI NIH HHS N01-CN-25518NCI NIH HHS N01-CN-25524NCI NIH HHS N01-CN-75022NCI NIH HHS P20 CA090578NCI NIH HHS P30 CA016672NCI NIH HHS P30 CA023108NCI NIH HHS P50 CA070907NCI NIH HHS P50 CA090578NCI NIH HHS P50 CA70907NCI NIH HHS R01 CA055769NCI NIH HHS R01CA055769NCI NIH HHS R01 CA074386NCI NIH HHS R01 CA092039NCI NIH HHS R01 CA092824NCI NIH HHS R01 CA111703NCI NIH HHS R01-CA111703NCI NIH HHS R01 CA121197NCI NIH HHS R01CA121197,NCI NIH HHS R01 CA127219NCI NIH HHS R01 CA133996NCI NIH HHS R01 CA55769NCI NIH HHS U01 CA063673NCI NIH HHS U01-CA63673NCI NIH HHS U19 CA148127NCI NIH HHS U19CA148127NCI NIH HHS UM1 CA167462NHGRI NIH HHS HHSN268200782096CNHGRI NIH HHS U01 HG004438NHGRI NIH HHS U01HG004438NHGRI NIH HHS U01 HG004446NHLBI NIH HHS R01HL091172-01NIDA NIH HHS DA17932NIDA NIH HHS R01 DA017932NIGMS NIH HHS GM103534NIGMS NIH HHS P20 GM103534World Health Organization 001
6 · The paper itself

Abstract

We conducted imputation to the 1000 Genomes Project of four genome-wide association studies of lung cancer in populations of European ancestry (11,348 cases and 15,861 controls) and genotyped an additional 10,246 cases and 38,295 controls for follow-up. We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 × 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 × 10(-13)). We also showed an association between common variation at 3q28 (TP63, rs13314271, OR = 1.13, P = 7.22 × 10(-10)) and lung adenocarcinoma that had been previously reported only in Asians. These findings provide further evidence for inherited genetic susceptibility to lung cancer and its biological basis. Additionally, our analysis demonstrates that imputation can identify rare disease-causing variants with substantive effects on cancer risk from preexisting genome-wide association study data.

Indexed as

AdenocarcinomaBRCA2 ProteinCarcinoma, Squamous CellCase-Control StudiesCheckpoint Kinase 2Genetic Predisposition to DiseaseGenome-Wide Association StudyHumansLung NeoplasmsMeta-Analysis as TopicPolymorphism, Single NucleotidePrognosisRisk FactorsBRCA2 ProteinBRCA2 protein, humanCheckpoint Kinase 2CHEK2 protein, human

Identifiers

PMID24880342
PMCPMC4074058
OpenAlexW2072881647

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.