Evidence map›Paper›PMID 32393777›Full record

ArticleNature communications2020

Protein-altering germline mutations implicate novel genes related to lung cancer development.

Xuemei Ji, Semanti Mukherjee, Maria Teresa Landi, Yohan Bosse, Philippe Joubert, Dakai Zhu, Ivan Gorlov, Xiangjun Xiao, Younghun Han, Olga Gorlova and 101 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed, 3 pooled it
2.7field-weighted citation impact, top 9% 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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

30 citing papers in PubMed, 3 syntheses or guidelines pooled it, 47 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. High-Penetrance Rare Variants Underlying Familial Lung Cancer Risk: Insights From Genetic Epidemiology of Lung Cancer Consortium.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2026
    Article
  6. Advances in the Basic Sciences in Thoracic Oncology in the Last 20 Years and Their Translational Impact.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2026
    Review
  7. Article
  8. The Current Roadmap of Lung Cancer Biology, Genomics and Racial Disparity.International journal of molecular sciences · 2025
    Review
  9. Article
  10. Article
  11. Evaluation of theHaematologica · 2024
    Article
  12. Article
  13. Article
  14. Review
  15. Emerging cancer risks in BRCA2 pathogenic germline variant carriers.European journal of human genetics : EJHG · 2023
    Article
  16. Article
  17. Review
  18. A Large-Scale Exome-Wide Association Study Identifies Novel Germline Mutations in Lung Cancer.American journal of respiratory and critical care medicine · 2023
    Article
  19. Article
  20. Rare GermlineJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

111 authors at 20 institutions in 20 countries.

Xuemei JiBiomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH, USA. xuemei.ji@yahoo.com.ORCID http://orcid.org/0000-0001-7416-9122
Semanti MukherjeeDepartment of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Maria Teresa LandiDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Yohan BosseInstitut universitaire de cardiologie et de pneumologie de Québec, Department of Molecular Medicine, Laval University, Québec, Canada.ORCID http://orcid.org/0000-0002-3067-3711
Philippe JoubertInstitut universitaire de cardiologie et de pneumologie de Québec, Department of Molecular Medicine, Laval University, Québec, Canada.
Dakai ZhuBiomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH, USA.
Ivan GorlovBiomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH, USA.
Xiangjun XiaoThe Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.
Younghun HanThe Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.
Olga GorlovaBiomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH, USA.
Rayjean J HungLunenfeld-Tanenbaum Research Institute, Sinai Health System and University of Toronto, Toronto, Canada.ORCID http://orcid.org/0000-0002-4486-7496
Yonathan BrhaneLunenfeld-Tanenbaum Research Institute, Sinai Health System and University of Toronto, Toronto, Canada.
Robert Carreras-TorresInternational Agency for Research on Cancer, World Health Organization, Lyon, France.
David C ChristianiDepartment of Environmental Health, Harvard T.H. Chan School of Public Health, Boston, MA, USA.ORCID http://orcid.org/0000-0002-0301-0242
Neil CaporasoDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Mattias JohanssonInternational Agency for Research on Cancer, World Health Organization, Lyon, France.
Geoffrey LiuLunenfeld-Tanenbaum Research Institute, Sinai Health System and University of Toronto, Toronto, Canada.
Stig E BojesenDepartment of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Copenhagen, Denmark.ORCID http://orcid.org/0000-0002-4061-4133
Loic Le MarchandEpidemiology Program, University of Hawaii Cancer Center, Honolulu, HI, USA.
Demetrios AlbanesDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Heike BickeböllerDepartment of Genetic Epidemiology, University Medical Center, Georg-August-University Göttingen, Göttingen, Germany.
Melinda C AldrichDepartment of Thoracic Surgery, Division of Epidemiology, Vanderbilt University Medical Center, Göttingen, Germany.
William S BushDepartment of Epidemiology and Biostatistics, School of Medicine, Case Western Reserve University, Cleveland, OH, USA.ORCID http://orcid.org/0000-0002-9729-6519
Adonina TardonIUOPA. University of Oviedo and CIBERESP, Faculty of Medicine, Campus del Cristo s/n, Oviedo, Spain.ORCID http://orcid.org/0000-0001-5150-1209
Gad RennertClalit National Cancer Control Center at Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel.ORCID http://orcid.org/0000-0002-8512-068X
Chu ChenPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Jinyoung ByunThe Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.
Konstantin H DragnevThe Norris Cotton Cancer Center, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.
John K FieldRoy Castle lung Cancer Research Programme, Institute of Translational Medicine, University of Liverpool, Liverpool, United Kingdom.
Lambertus Fa KiemeneyRadboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.
Philip LazarusDepartment of Pharmaceutical Sciences, College of Pharmacy, Washington State University, Spokane, WA, USA.
Shan ZienolddinyNational Institute of Occupational Health, Oslo, Norway.
Stephen LamBritish Columbia Cancer Agency, Vancouver, Canada.
Matthew B SchabathDepartment of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.ORCID http://orcid.org/0000-0003-3241-3216
Angeline S AndrewDepartment of Epidemiology, Geisel School of Medicine, Hanover, NH, USA.
Pier A BertazziDepartment of Preventive Medicine, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Angela C PesatoriDepartment of Preventive Medicine, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.ORCID http://orcid.org/0000-0002-0261-3252
Nancy DiaoDepartment of Environmental Health, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Li SuDepartment of Environmental Health, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Lei SongDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Ruyang ZhangDepartment of Environmental Health, Harvard T.H. Chan School of Public Health, Boston, MA, USA.ORCID http://orcid.org/0000-0003-3861-4297
Natasha LeighlUniversity Health Network- The Princess Margaret Cancer Centre, Toronto, CA, USA.
Jakob S JohansenDepartment of Oncology, Herlev and Gentofte Hospital, Copenhagen University Hospital, Copenhagen, Denmark.ORCID http://orcid.org/0000-0002-1470-1516
Anders MellemgaardDepartment of Oncology, Herlev and Gentofte Hospital, Copenhagen University Hospital, Copenhagen, Denmark.
Walid SalibaClalit National Cancer Control Center at Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel.
Christopher HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, CA, USA.
Lynne WilkensEpidemiology Program, University of Hawaii Cancer Center, Honolulu, HI, USA.
Ana Fernandez-SomoanoIUOPA. University of Oviedo and CIBERESP, Faculty of Medicine, Campus del Cristo s/n, Oviedo, Spain.
Guillermo Fernandez-TardonIUOPA. University of Oviedo and CIBERESP, Faculty of Medicine, Campus del Cristo s/n, Oviedo, Spain.ORCID http://orcid.org/0000-0002-7680-158X
Erik H F M van der HeijdenRadboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.ORCID http://orcid.org/0000-0003-3596-518X
Jin Hee KimDepartment of Integrative Bioscience & Biotechnology, Sejong University, Gwangjin-gu, Seoul, Republic of Korea.ORCID http://orcid.org/0000-0003-1204-7079
Michael P A DaviesRoy Castle lung Cancer Research Programme, Institute of Translational Medicine, University of Liverpool, Liverpool, United Kingdom.ORCID http://orcid.org/0000-0002-7609-4977
Michael W MarcusRoy Castle lung Cancer Research Programme, Institute of Translational Medicine, University of Liverpool, Liverpool, United Kingdom.
Hans BrunnströmDepartment of Pathology, Lund University, Lund, Sweden.ORCID http://orcid.org/0000-0001-7402-138X
Jonas ManjerFaculty of Medicine, Lund University, Lund, Sweden.
Olle MelanderFaculty of Medicine, Lund University, Lund, Sweden.
David C MullerSchool of Public Health, St Mary's Campus, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-2350-0417
Kim OvervadFaculty of Medicine, Lund University, Lund, Sweden.ORCID http://orcid.org/0000-0001-6429-7921
Antonia TrichopoulouHellenic Health Foundation, Athens, GR, Greece.
Rosario TuminoCancer Registry and Histopathology Department, "Civic - M.P. Arezzo" Hospital, Asp Ragusa, Italy.ORCID http://orcid.org/0000-0003-2666-414X
Gary E GoodmanFred Hutchinson Cancer Research Center, Seattle, WA, USA.
Angela CoxDepartment of Oncology and Metabolism, University of Sheffield, Sheffield, UK.ORCID http://orcid.org/0000-0002-5138-1099
Fiona TaylorDepartment of Oncology and Metabolism, University of Sheffield, Sheffield, UK.
Penella WollDepartment of Oncology and Metabolism, University of Sheffield, Sheffield, UK.
Erich WichmannResearch Unit of Molecular Epidemiology, Institute of Epidemiology II, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Thomas MuleyThoraxklinik at University Hospital Heidelberg, Heidelberg, Germany.ORCID http://orcid.org/0000-0002-8141-0604
Angela RischUniversity of Salzburg and Cancer Cluster Salzburg, Salzburg, Austria.ORCID http://orcid.org/0000-0002-8026-5505
Albert RosenbergerDepartment of Genetic Epidemiology, University Medical Center, Georg-August-University Göttingen, Göttingen, Germany.ORCID http://orcid.org/0000-0001-7848-1332
Kjell GrankvistDepartment of Medical Biosciences, Umeå University, Umeå, Sweden.ORCID http://orcid.org/0000-0003-4289-2097
Mikael JohanssonDepartment of Radiation Sciences, Umeå University, Umeå, Sweden.
Frances ShepherdPrincess Margaret Cancer Centre, Toronto, Canada.
Ming-Sound TsaoPrincess Margaret Cancer Centre, Toronto, Canada.ORCID http://orcid.org/0000-0002-9160-5405
Susanne M ArnoldUniversity of Kentucky, Markey Cancer Center, Lexington, KY, USA.ORCID http://orcid.org/0000-0001-6542-9551
Eric B HauraDepartment of Thoracic Oncology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.
Ciprian BolcaInstitute of Pneumology "Marius Nasta", Bucharest, Romania.ORCID http://orcid.org/0000-0001-5480-4459
Ivana HolcatovaCharles University, 1st Faculty of Medicine, Prague, Czech Republic.ORCID http://orcid.org/0000-0002-1366-0337
Vladimir JanoutFaculty of Health Sciences, Palacky University, Olomouc, Czech Republic.
Milica KonticClinical Center of Serbia, Clinic for Pulmonology, School of Medicine, University of Belgrade, Belgrade, Serbia.
Jolanta LissowskaDepartment of Cancer Epidemiology and Prevention, M. Sklodowska-Curie Institute - Oncology Center, Warsaw, Poland.
Anush MukeriaDepartment of Epidemiology and Prevention, Russian N.N.Blokhin Cancer Research Centre, Moscow, Russian Federation.ORCID http://orcid.org/0000-0002-6847-9295
Simona OgnjanovicInternational Organization for Cancer Prevention and Research, Belgrade, Serbia.
Tadeusz M OrlowskiDepartment of Surgery, National Tuberculosis and Lung Diseases Research Institute, Warsaw, Poland.
Ghislaine SceloInternational Agency for Research on Cancer, World Health Organization, Lyon, France.
Beata SwiatkowskaNofer Institute of Occupational Medicine, Department of Environmental Epidemiology, Lodz, Poland.
David ZaridzeDepartment of Epidemiology and Prevention, Russian N.N.Blokhin Cancer Research Centre, Moscow, Russian Federation.
Per BakkeDepartment of Clinical Science, University of Bergen, Bergen, Norway.
Vidar SkaugNational Institute of Occupational Health, Oslo, Norway.
Lesley M ButlerUniversity of Pittsburgh Cancer Institute, Pittsburgh, USA.
Kenneth OffitDepartment of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Preethi SrinivasanDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, USA.
Chaitanya BandlamudiMarie-Josée and Henry R. KravisCenter for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, USA.
Matthew D HellmannDepartment of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-2670-9777
David B SolitDepartment of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Mark E RobsonDepartment of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-3109-1692
Charles M RudinDepartment of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID http://orcid.org/0000-0001-5204-3465
Zsofia K StadlerDepartment of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Barry S TaylorMarie-Josée and Henry R. KravisCenter for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, USA.ORCID http://orcid.org/0000-0002-3355-9471
Michael F BergerDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, USA.
Richard HoulstonThe Institute of Cancer Research, London, UK.ORCID http://orcid.org/0000-0002-5268-0242
John McLaughlinUniversity of Toronto, Toronto, Canada.
Victoria StevensAmerican Cancer Society, Inc., Atlanta, GA, USA.ORCID http://orcid.org/0000-0003-0259-4407
David C NickleMerck Research Laboratories, Genetics and Pharmacogenomics, Boston, MA, USA.
Ma'en ObeidatThe University of British Columbia Centre for Heart Lung Innovation, St Paul's Hospital, Vancouver, BC, Canada.ORCID http://orcid.org/0000-0002-5443-2752
Wim TimensUniversity of Groningen, University Medical Center Groningen, Department of Pathology and Medical Biology, GRIAC research institute, Groningen, The Netherlands.ORCID http://orcid.org/0000-0002-4146-6363
María Soler ArtigasGenetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester, LE1 7RH, UK.
Sanjay SheteDepartment of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Stephen ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-2324-3393
Paul BrennanInternational Agency for Research on Cancer, World Health Organization, Lyon, France.ORCID http://orcid.org/0000-0002-0518-8714
James D McKayInternational Agency for Research on Cancer, World Health Organization, Lyon, France.
Christopher I AmosThe Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA. chrisa@bcm.edu.ORCID http://orcid.org/0000-0002-8540-7023
Memorial Sloan Kettering Cancer Center · USCentre international de recherche sur le cancer · FRDartmouth College · USNational Institutes of Health · USBaylor College of Medicine · USHarvard University · USLund University · SEUniversity of Toronto · CAUniversidad de Oviedo · ESUniversity of Liverpool · GBUniversity of Sheffield · GBCarmel Medical Center · ILFred Hutch Cancer Center · USGentofte Hospital · DKInstitut universitaire de cardiologie et de pneumologie de Québec · CAMoffitt Cancer Center · USNational Institute of Occupational Health · NOPrincess Margaret Cancer Centre · CARadboud University Nijmegen · NLRussian Cancer Research Center NN Blokhin · RU

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
Tumor Evolution and Metastasis ProgramP30CA016672 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI Scott Kopetz · 1985 to 2026
$290.8M
TRANSLATIONAL RESEARCHP30CA076292 · NCI · UNIVERSITY OF SOUTH FLORIDA · PI KENNETH Lynn WRIGHT · 1998 to 2026
$93.5M
Translational Engineering in Cancer (TEC)P30CA023108 · NCI · DARTMOUTH COLLEGE · PI Steven D Leach · 1985 to 2026
$91.3M
Transgenic Mouse FacilityP30CA033572 · NCI · CITY OF HOPE/BECKMAN RESEARCH INSTITUTE · PI STANLEY R. HAMILTON · 1985 to 2026
$86.3M
UNIVERSITY OF TEXAS--SPORE IN LUNG CANCERP50CA070907 · NCI · UT SOUTHWESTERN MEDICAL CENTER · PI GIBBONS, DON LYNN · 1996 to 2024
$57.4M
University of Hawaii Cancer Center CCSGP30CA071789 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI Xin Chen · 1996 to 2026
$56.2M
The Vanderbilt Institute for Clinical and Translational Research (VICTR)UL1TR000445 · NCATS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BERNARD, GORDON RAPHAEL · 2012 to 2016
$41.4M
University of Kentucky Markey Cancer Center Support Grant ECIA SupplementP30CA177558 · NCI · UNIVERSITY OF KENTUCKY · PI KATHLEEN L. O'CONNOR · 2013 to 2026
$38.3M
Understanding Population Differences in Cancer: The MEC StudyU01CA164973 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI HAIMAN, CHRISTOPHER ALAN, LE MARCHAND, LOIC · 2015 to 2025
$37.4M
Translating Molecular and Clinical Data to Population Lung Cancer Risk AssessmentU19CA203654 · NCI · UNIVERSITY OF NEW MEXICO HEALTH SCIS CTR · PI Christopher I. Amos, Rayjean J. Hung · 2017 to 2026
$23.7M
GENETIC SUSCEPTIBILITY TO CANCER IN MULTIETHNIC COHORTSR01CA063464 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 2001 to 2005
$23.2M
Cancer Research UK 24390Department of HealthMedical Research Council G0902313NCATS NIH HHS UL1 TR000117NCATS NIH HHS UL1 TR000445NCI NIH HHS K07 CA172294NCI NIH HHS P01 CA033619NCI NIH HHS P20 CA090578NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA016672NCI NIH HHS P30 CA023108NCI NIH HHS P30 CA033572NCI NIH HHS P30 CA071789NCI NIH HHS P30 CA076292NCI NIH HHS P30 CA177558NCI NIH HHS P50 CA070907NCI NIH HHS P50 CA090578NCI NIH HHS P50 CA119997NCI NIH HHS R01 CA063464NCI NIH HHS R01 CA074386NCI NIH HHS R01 CA092824NCI NIH HHS R01 CA111703NCI NIH HHS R01 CA151989NCI NIH HHS R01 CA176568NCI NIH HHS R35 CA197449NCI NIH HHS U01 CA063464NCI NIH HHS U01 CA164973NCI NIH HHS U01 CA167462NCI NIH HHS U01 CA209414NCI NIH HHS U19 CA148127NCI NIH HHS U19 CA203654NCI NIH HHS UM1 CA164973NCI NIH HHS UM1 CA167462NCRR NIH HHS P20 RR018787NCRR NIH HHS S10 RR025141NHGRI NIH HHS U01 HG004798NIGMS NIH HHS P20 GM103534NLM NIH HHS R56 LM012371Wellcome Trust 202849/Z/16/ZWellcome Trust WT202849/Z/16/ZWorld Health Organization 001
6 · The paper itself

Abstract

Few germline mutations are known to affect lung cancer risk. We performed analyses of rare variants from 39,146 individuals of European ancestry and investigated gene expression levels in 7,773 samples. We find a large-effect association with an ATM L2307F (rs56009889) mutation in adenocarcinoma for discovery (adjusted Odds Ratio = 8.82, P = 1.18 × 10

Indexed as

AdenocarcinomaAgedAllelesAtaxia Telangiectasia Mutated ProteinsDatabases, GeneticFemaleGenetic Predisposition to DiseaseGenotyping TechniquesGerm-Line MutationHeterozygoteHumansJewsLung NeoplasmsMaleMiddle AgedMutation, MissenseAtaxia Telangiectasia Mutated ProteinsATM protein, human

Identifiers

PMID32393777
PMCPMC7214407
OpenAlexW3021993914

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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.