ArticleNature communications2024
Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes.
Registry-linked trialOpen access · goldAbstract read
In one paragraph
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02328677 (ColoCare Transdisciplinary Research in Colorectal Cancer Prognosis), which is not on this map. Cited by 15 papers.
0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
6.8field-weighted citation impact, top 3% of its field
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.
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.
ColoCare Transdisciplinary Research in Colorectal Cancer Prognosis
Who cites it
15 citing papers in PubMed, 16 citations in OpenAlex.
- Emerging trends in the global burden of colorectal cancer.Nature reviews. Clinical oncology · 2026Review
- Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer-Predisposing Factors in Familial Early-Onset Colorectal Cancer.The Kaohsiung journal of medical sciences · 2026Article
- A Swedish Haplotype GWAS in Familial and Sporadic Site-Specific Colorectal Cancer.International journal of molecular sciences · 2026Article
- Mixed-model and transcriptome-wide association analyses identify transcription factors and genes associated with colorectal cancer susceptibility.Nature communications · 2026Article
- Large-scale integration of omics and electronic health records to identify potential risk protein biomarkers and therapeutic drugs for cancer prevention.American journal of human genetics · 2026Article
- Haplotype GWAS in Colorectal Cancer Patients with a Family History of Gastric or Prostate Cancer.International journal of molecular sciences · 2026Article
- Engineered Nanozymes for Colorectal Cancer Therapy: Catalytic Reprogramming of the Tumor Microenvironment.International journal of nanomedicine · 2026Review
- Provider perceptions and insights on polygenic risk scores for colorectal cancer: A qualitative study.Journal of genetic counseling · 2025Article
- Burden and forecast of colorectal cancer in the selected East Asian countries (1990-2036): a systematic analysis based on the global burden of disease study 2021.Annals of medicine · 2025Article
- Building research infrastructure to advance precision medicine in colorectal cancer.JNCI cancer spectrum · 2025Article
- Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers.International journal of cancer · 2025Article
- Enhancing disease risk gene discovery by integrating transcription factor-linked trans-variants into transcriptome-wide association analyses.Nucleic acids research · 2025Article
- Integrative GWAS and RNA-Seq analysis for target identification and virtual drug screening in colorectal cancer.PloS one · 2025Article
- Lessons we learned from the Lothian Birth Cohorts of 1921 and 1936.Genomic psychiatry : advancing science from genes to society · 2025Article
- Integrated systematic functional screen and fine-mapping decipher the role and genetic regulation of RPS19 in colorectal cancer development.Archives of toxicology · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
205 authors at 20 institutions in 23 countries.
Zhishan ChenDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Xingyi GuoDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0001-5269-1294
Ran TaoDepartment of Biostatistics, Vanderbilt University Medical Center, Nashville, TN, USA.
Jeroen R HuyghePublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.ORCID http://orcid.org/0000-0001-6027-9806
Philip J LawDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.ORCID http://orcid.org/0000-0001-9663-4611
Ceres Fernandez-RozadillaEdinburgh Cancer Research Centre, Institute of Genomics and Cancer, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0001-7330-4804
Jie PingDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0001-9907-5819
Guochong JiaDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0002-8455-1832
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Chao LiDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Quanhu ShenDepartment of Biostatistics, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0001-8951-9295
Yuhan XieDepartment of Biostatistics, Yale School of Public Health, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-1738-0885
Maria N TimofeevaColon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-2503-4253
Minta ThomasPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.ORCID http://orcid.org/0000-0001-9337-7015
Stephanie L SchmitGenomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.ORCID http://orcid.org/0000-0001-5931-1194
Virginia Díez-ObreroColorectal Cancer Group, ONCOBELL Program, Bellvitge Biomedical Research Institute, Barcelona, Spain.
Matthew DevallCenter for Public Health Genomics, Department of Public Health Sciences, University of Virginia, Charlottesville, VA, USA.ORCID http://orcid.org/0000-0001-5943-4397
Ferran Moratalla-NavarroColorectal Cancer Group, ONCOBELL Program, Bellvitge Biomedical Research Institute, Barcelona, Spain.ORCID http://orcid.org/0000-0001-7858-5713
Juan Fernandez-TajesEdinburgh Cancer Research Centre, Institute of Genomics and Cancer, University of Edinburgh, Edinburgh, UK.
Claire PallesInstitute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.ORCID http://orcid.org/0000-0002-9670-2263
Kitty SherwoodEdinburgh Cancer Research Centre, Institute of Genomics and Cancer, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0009-0007-4055-607X
Sarah E W BriggsDepartment of Public Health, Richard Doll Building, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-1844-0755
Victoria SvintiColon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Kevin DonnellyColon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0001-7633-9113
Susan M FarringtonColon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0001-5955-7389
James BlackmurColon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Peter G Vaughan-ShawColon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Yingchang LuDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Peter BroderickDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.ORCID http://orcid.org/0000-0002-8348-5829
James StuddDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.ORCID http://orcid.org/0000-0002-7157-754X
Tabitha A HarrisonPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
David V ContiDepartment of Preventive Medicine, USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Fredrick R SchumacherCase Comprehensive Cancer Center, Case Western Reserve University, Cleveland, OH, USA.ORCID http://orcid.org/0000-0002-3073-7463
Marilena MelasThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Gad RennertClalit National Cancer Control Center, Haifa, Israel.ORCID http://orcid.org/0000-0002-8512-068X
Mireia Obón-SantacanaColorectal Cancer Group, ONCOBELL Program, Bellvitge Biomedical Research Institute, Barcelona, Spain.
Vicente Martín-SánchezConsortium for Biomedical Research in Epidemiology and Public Health, Madrid, Spain.ORCID http://orcid.org/0000-0003-0552-2804
Jae Hwan OhCenter for Colorectal Cancer, National Cancer Center Hospital, National Cancer Center, Gyeonggi-do, South Korea.
Jeongseon KimDepartment of Cancer Biomedical Science, Graduate School of Cancer Science and Policy, National Cancer Center, Gyeonggi-do, South Korea.ORCID http://orcid.org/0000-0002-0889-2686
Sun Ha JeeDepartment of Epidemiology and Health Promotion, Graduate School of Public Health, Yonsei University, Seoul, South Korea.
Keum Ji JungDepartment of Epidemiology and Health Promotion, Graduate School of Public Health, Yonsei University, Seoul, South Korea.ORCID http://orcid.org/0000-0003-4993-0666
Sun-Seog KweonDepartment of Preventive Medicine, Chonnam National University Medical School, Gwangju, South Korea.
Min-Ho ShinDepartment of Preventive Medicine, Chonnam National University Medical School, Gwangju, South Korea.ORCID http://orcid.org/0000-0002-2217-5624
Aesun ShinCancer Research Institute, Seoul National University, Seoul, South Korea.ORCID http://orcid.org/0000-0002-6426-1969
Yoon-Ok AhnDepartment of Preventive Medicine, Seoul National University College of Medicine, Seoul, South Korea.
Dong-Hyun KimDepartment of Social and Preventive Medicine, Hallym University College of Medicine, Okcheon-dong, South Korea.
Isao OzeDivision of Cancer Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan.ORCID http://orcid.org/0000-0002-0762-1147
Wanqing WenDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0002-3004-5168
Keitaro MatsuoDepartment of Epidemiology, Nagoya University Graduate School of Medicine, Nagoya, Japan.ORCID http://orcid.org/0000-0003-1761-6314
Koichi MatsudaLaboratory of Clinical Genome Sequencing, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, University of Tokyo, Tokyo, Japan.ORCID http://orcid.org/0000-0001-7292-2686
Chizu TanikawaLaboratory of Genome Technology, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan.
Zefang RenSchool of Public Health, Sun Yat-sen University, Guangzhou, China.ORCID http://orcid.org/0000-0002-7785-4704
Yu-Tang GaoState Key Laboratory of Oncogenes and Related Genes and Department of Epidemiology, Shanghai Cancer Institute, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Wei-Hua JiaState Key Laboratory of Oncology in South China, Cancer Center, Sun Yat-sen University, Guangzhou, China.ORCID http://orcid.org/0000-0002-0528-8715
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, Australia.
Mark A JenkinsCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, Australia.ORCID http://orcid.org/0000-0002-8964-6160
Aung Ko WinCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, Australia.ORCID http://orcid.org/0000-0002-2794-5261
Rish K PaiDepartment of Laboratory Medicine and Pathology, Mayo Clinic Arizona, Scottsdale, AZ, USA.
Jane C FigueiredoDepartment of Preventive Medicine, USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Robert W HaileDivision of Oncology, Department of Medicine, Cedars-Sinai Cancer Research Center for Health Equity, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0001-6902-1836
Steven GallingerLunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-6998-9414
Michael O WoodsDivision of Biomedical Sciences, Memorial University of Newfoundland, St. John, ON, Canada.
Polly A NewcombPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.ORCID http://orcid.org/0000-0001-8786-0043
David DugganCity of Hope National Medical Center, Translational Genomics Research Institute, Phoenix, AZ, USA.
Jeremy P CheadleInstitute of Medical Genetics, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0001-9453-8458
Richard KaplanMRC Clinical Trials Unit, Medical Research Council, Cardiff, UK.ORCID http://orcid.org/0000-0002-0189-8348
Rachel KerrDepartment of Oncology, University of Oxford, Oxford, UK.
David KerrRadcliffe Department of Medicine, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0001-7811-6722
Iva KiracDepartment of Surgical Oncology, University Hospital for Tumors, Sestre milosrdnice University Hospital Center, Zagreb, Croatia.
Jan BöhmDepartment of Pathology, Central Finland Health Care District, Jyväskylä, Finland.
Jukka-Pekka MecklinCentral Finland Health Care District, Jyväskylä, Finland.
Pekka JousilahtiDepartment of Health and Welfare, Finnish Institute for Health and Welfare, Helsinki, Finland.ORCID http://orcid.org/0000-0001-7190-0979
Paul KnektDepartment of Health and Welfare, Finnish Institute for Health and Welfare, Helsinki, Finland.
Lauri A AaltonenDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0001-6839-4286
Harri RissanenDepartment of Public Health and Welfare, Finnish Institute for Health and Welfare, Helsinki, Finland.
Eero PukkalaFaculty of Social Sciences, Tampere University, Tampere, Finland.
Johan G ErikssonFolkhälsan Research Centre, University of Helsinki, Helsinki, Finland.
Tatiana CajusoDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-6354-5572
Ulrika HänninenDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0003-1558-0450
Johanna KondelinDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Kimmo PalinDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-4621-6128
Tomas TanskanenDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Laura Renkonen-SinisaloDepartment of Surgery, Abdominal Centre, Helsinki University Hospital, Helsinki, Finland.
Satu MännistöDepartment of Public Health and Welfare, Finnish Institute for Health and Welfare, Helsinki, Finland.ORCID http://orcid.org/0000-0002-8668-3046
Demetrius AlbanesDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Stephanie J WeinsteinDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-3834-1535
Edward Ruiz-NarvaezDepartment of Nutritional Sciences, School of Public Health, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0002-0339-5824
Julie R PalmerDepartment of Medicine, Boston University School of Medicine, Boston, MA, USA.
Daniel D BuchananColorectal Oncogenomics Group, Department of Clinical Pathology, University of Melbourne, Parkville, VIC, Australia.ORCID http://orcid.org/0000-0003-2225-6675
Elizabeth A PlatzDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.ORCID http://orcid.org/0000-0003-3676-8954
Kala VisvanathanDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.ORCID http://orcid.org/0000-0002-0582-8005
Cornelia M UlrichHuntsman Cancer Institute and Department of Population Health Sciences, University of Utah, Salt Lake City, UT, USA.
Erin SiegelCancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.ORCID http://orcid.org/0000-0003-1779-2510
Stefanie BrezinaInstitute of Cancer Research, Department of Medicine I, Medical University Vienna, Vienna, Austria.ORCID http://orcid.org/0000-0001-5238-6900
Andrea GsurInstitute of Cancer Research, Department of Medicine I, Medical University Vienna, Vienna, Austria.ORCID http://orcid.org/0000-0002-9795-1528
Peter T CampbellDepartment of Epidemiology and Population Health, Albert Einstein College of Medicine, New York, NY, USA.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center, Heidelberg, Germany.ORCID http://orcid.org/0000-0001-8919-1971
Michael HoffmeisterDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany.ORCID http://orcid.org/0000-0002-8307-3197
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany.ORCID http://orcid.org/0000-0002-6129-1572
Martha L SlatteryDepartment of Internal Medicine, University of Utah, Salt Lake City, UT, USA.
John D PotterPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.ORCID http://orcid.org/0000-0001-5439-1500
Kostas K TsilidisDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.
Matthias B SchulzeDepartment of Molecular Epidemiology, German Institute of Human Nutrition Potsdam-Rehbruecke, Nuthetal, Germany.ORCID http://orcid.org/0000-0002-0830-5277
Marc J GunterNutrition and Metabolism Branch, International Agency for Research on Cancer, World Health Organization, Lyon, France.
Neil MurphyNutrition and Metabolism Branch, International Agency for Research on Cancer, World Health Organization, Lyon, France.ORCID http://orcid.org/0000-0003-3347-8249
Antoni CastellsGastroenterology Department, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas, University of Barcelona, Barcelona, Spain.ORCID http://orcid.org/0000-0001-8431-2033
Sergi Castellví-BelGastroenterology Department, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas, University of Barcelona, Barcelona, Spain.ORCID http://orcid.org/0000-0003-1217-5097
Leticia MoreiraGastroenterology Department, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas, University of Barcelona, Barcelona, Spain.ORCID http://orcid.org/0000-0002-4518-8591
Volker ArndtDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany.ORCID http://orcid.org/0000-0001-9320-8684
Anna ShcherbinaDepartment of Genetics, Stanford University, Stanford, CA, USA.
D Timothy BishopLeeds Institute of Medical Research at St James's, University of Leeds, Leeds, UK.ORCID http://orcid.org/0000-0002-8752-8785
Graham G GilesCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, Australia.
Melissa C SoutheyCancer Epidemiology Division, Cancer Council Victoria, Melbourne, VIC, Australia.ORCID http://orcid.org/0000-0002-6313-9005
Gregory E IdosDepartment of Medical Oncology and Center For Precision Medicine, City of Hope National Medical Center, Duarte, CA, USA.
Kevin J McDonnellClalit National Cancer Control Center, Haifa, Israel.
Zomoroda Abu-FulDepartment of Community Medicine and Epidemiology, Lady Davis Carmel Medical Center, Haifa, Israel.
Joel K GreensonClalit National Cancer Control Center, Haifa, Israel.
Katerina ShulmanDepartment of Community Medicine and Epidemiology, Lady Davis Carmel Medical Center, Haifa, Israel.
Flavio LejbkowiczClalit National Cancer Control Center, Haifa, Israel.
Kenneth OffitClinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
Yu-Ru SuKaiser Permanente Washington Health Research Institute, Seattle, WA, USA.
Robert SteinfelderPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.ORCID http://orcid.org/0000-0003-4204-8013
Temitope O KekuCenter for Gastrointestinal Biology and Disease, University of North Carolina, Chapel Hill, NC, USA.
Bethany van GuelpenDepartment of Radiation Sciences, Oncology Unit, Umeå University, Umeå, Sweden.ORCID http://orcid.org/0000-0002-9692-101X
Thomas J HudsonOntario Institute for Cancer Research, Toronto, ON, Canada.
Heather HampelDivision of Human Genetics, Department of Internal Medicine, Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.
Rachel PearlmanDivision of Human Genetics, Department of Internal Medicine, Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.
Sonja I BerndtDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Richard B HayesDivision of Epidemiology, Department of Population Health, New York University School of Medicine, New York, NY, USA.ORCID http://orcid.org/0000-0002-0918-661X
Marie Elena MartinezDepartment of Family Medicine and Public Health, University of California San Diego, La Jolla, CA, USA.
Sushma S ThomasFred Hutchinson Cancer Center, Seattle, WA, USA.
Paul D P PharoahDepartment of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Susanna C LarssonInstitute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID http://orcid.org/0000-0003-0118-0341
Yun YenTaipei Medical University, Taipei, Taiwan.ORCID http://orcid.org/0000-0003-0815-412X
Heinz-Josef LenzDepartment of Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0003-2178-9568
Emily WhitePublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Li LiCase Comprehensive Cancer Center, Case Western Reserve University, Cleveland, OH, USA.
Kimberly F DohenyCenter for Inherited Disease Research, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID http://orcid.org/0000-0001-8806-5738
Elizabeth PughCenter for Inherited Disease Research, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Tameka ShelfordCenter for Inherited Disease Research, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Andrew T ChanBroad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-7284-6767
Marcia Cruz-CorreaComprehensive Cancer Center, University of Puerto Rico, San Juan, Puerto Rico.
Annika LindblomDepartment of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
David J HunterDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Harvard University, Boston, MA, USA.
Amit D JoshiClinical and Translational Epidemiology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Clemens SchafmayerDepartment of General Surgery, University Hospital Rostock, Rostock, Germany.
Peter C ScacheriDepartment of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.
Anshul KundajeDepartment of Genetics, Stanford University, Stanford, CA, USA.ORCID http://orcid.org/0000-0003-3084-2287
Robert E SchoenDepartment of Medicine and Epidemiology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.ORCID http://orcid.org/0000-0001-7153-2766
Jochen HampeDepartment of Medicine I, University Hospital Dresden, Technische Universität Dresden, Dresden, Germany.ORCID http://orcid.org/0000-0002-2421-6127
Zsofia K StadlerDepartment of Medicine, Weill Cornell Medical College, New York, NY, USA.ORCID http://orcid.org/0000-0002-6985-2864
Pavel VodickaDepartment of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences, Prague, Czech Republic.
Ludmila VodickovaDepartment of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences, Prague, Czech Republic.
Veronika VymetalkovaDepartment of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences, Prague, Czech Republic.
Christopher K EdlundDepartment of Preventive Medicine, USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
W James GaudermanDepartment of Preventive Medicine, USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
David ShibataDepartment of Surgery, University of Tennessee Health Science Center, Memphis, TN, USA.
Amanda TolandDepartments of Cancer Biology and Genetics and Internal Medicine, Comprehensive Cancer Center, Ohio State University, Columbus, OH, USA.ORCID http://orcid.org/0000-0002-0271-1792
Sanford MarkowitzDepartments of Medicine and Genetics, Case Comprehensive Cancer Center, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OH, USA.ORCID http://orcid.org/0000-0001-5369-5254
Andre KimDepartment of Preventive Medicine, USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-2324-3393
Franzel van DuijnhovenDivision of Human Nutrition and Health, Wageningen University and Research, Wageningen, The Netherlands.
Edith J M FeskensDivision of Human Nutrition, Wageningen University and Research, Wageningen, The Netherlands.ORCID http://orcid.org/0000-0001-5819-2488
Lori C SakodaPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-0900-5735
Manuela Gago-DominguezGenomic Medicine Group, Galician Public Foundation of Genomic Medicine, Servicio Galego de Saude, Santiago de Compostela, Spain.
Alicja WolkInstitute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID http://orcid.org/0000-0001-7387-6845
Barbara PardiniCandiolo Cancer Institute FPO-IRCCS, Candiolo, (TO), Italy.ORCID http://orcid.org/0000-0001-9571-4257
Liesel M FitzGeraldCancer Epidemiology Division, Cancer Council Victoria, Melbourne, VIC, Australia.
Soo Chin LeeNational University Cancer Institute, Singapore, Cancer Science Institute of Singapore, National University of Singapore, Singapore, Singapore.
Shuji OginoDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Harvard University, Boston, MA, USA.ORCID http://orcid.org/0000-0002-3909-2323
Stephanie A BienPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Charles KooperbergPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-7986-8560
Christopher I LiPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Yi LinPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Ross PrenticePublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Conghui QuPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Stéphane BézieauService de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes, France.ORCID http://orcid.org/0000-0003-0095-1319
Taiki YamajiDivision of Epidemiology, National Cancer Center Institute for Cancer Control, National Cancer Center, Tokyo, Japan.
Norie SawadaDivision of Cohort Research, National Cancer Center Institute for Cancer Control, National Cancer Center, Tokyo, Japan.ORCID http://orcid.org/0000-0002-9936-1476
Motoki IwasakiDivision of Epidemiology, National Cancer Center Institute for Cancer Control, National Cancer Center, Tokyo, Japan.
Loic Le MarchandCancer Center, University of Hawaii, Honolulu, HI, USA.
Anna H WuPreventative Medicine, University of Southern California, Los Angeles, CA, USA.
Chenxu QuUSC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Caroline E McNeilUSC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Gerhard CoetzeeVan Andel Research Institute, Grand Rapids, MI, USA.ORCID http://orcid.org/0000-0001-8820-8364
Caroline HaywardMRC Human Genetics Unit, Institute of Genomics and Cancer, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-9405-9550
Ian J DearyLothian Birth Cohorts group, Department of Psychology, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-1733-263X
Sarah E HarrisLothian Birth Cohorts group, Department of Psychology, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-4941-5106
Evropi TheodoratouCentre for Global Health, Usher Institute, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0001-5887-9132
Stuart ReidColon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Marion WalkerColon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Li Yin OoiColon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-5588-2130
Ken S LauEpithelial Biology Center and Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN, USA.ORCID http://orcid.org/0000-0001-8438-0319
Hongyu ZhaoDepartment of Biostatistics, Yale School of Public Health, New Haven, CT, USA.ORCID http://orcid.org/0000-0003-1195-9607
Li HsuPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.ORCID http://orcid.org/0000-0001-8168-4712
Qiuyin CaiDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0002-9384-5648
Malcolm G DunlopColon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-3033-5851
Stephen B GruberDepartment of Medical Oncology and Center For Precision Medicine, City of Hope National Medical Center, Duarte, CA, USA.ORCID http://orcid.org/0000-0001-8656-7822
Richard S HoulstonDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.ORCID http://orcid.org/0000-0002-5268-0242
Victor MorenoColorectal Cancer Group, ONCOBELL Program, Bellvitge Biomedical Research Institute, Barcelona, Spain.ORCID http://orcid.org/0000-0002-2818-5487
Graham CaseyCenter for Public Health Genomics, Department of Public Health Sciences, University of Virginia, Charlottesville, VA, USA.
Ulrike PetersPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.ORCID http://orcid.org/0000-0001-5666-9318
Ian TomlinsonEdinburgh Cancer Research Centre, Institute of Genomics and Cancer, University of Edinburgh, Edinburgh, UK.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, USA. wei.zheng@vanderbilt.edu.ORCID http://orcid.org/0000-0003-1226-070X
Fred Hutch Cancer Center · USVanderbilt University Medical Center · USUniversity of Southern California · USInstitute of Genetics and Cancer · GBUniversity of Helsinki · FIJohns Hopkins University · USThe University of Melbourne · AUUniversity of Washington · USEdinburgh Cancer Research · GBFinnish Institute for Health and Welfare · FIInstitut d'Investigació Biomédica de Bellvitge · ESInstitute of Cancer Research · GBNational Institutes of Health · USCarmel Medical Center · ILCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas · ESCharles University · CZCity Of Hope National Medical Center · USGerman Cancer Research Center · DEUniversity of Oxford · GBAichi Cancer Center · JP
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI SELWYN M VICKERS · 1985 to 2026
$347.4MTumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Ben Ho Park · 1995 to 2026
$172.8MYale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MUNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Hazel B Nichols · 2001 to 2026
$36.3MStatistical Methods for Integrative Genomics in CancerP01CA196569 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI David V Conti · 2016 to 2026
$25.5MTransdisciplinary Team Science in Colorectal Cancer Prognosis: the ColoCare StudyU01CA206110 · NCI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Jane C. Figueiredo, Christopher I Li · 2016 to 2026
$18.6MData sharing: the Colon Cancer Family Registry CohortU01CA167551 · NCI · UNIVERSITY OF MELBOURNE · PI Daniel David BUCHANAN, Steven Gallinger · 2018 to 2026
$16.8MLeveraging Prospective Cancer Epidemiology Cohorts and Novel Methods to Improve Polygenic Risk ScoresU01CA261339 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Fei Chen, David V Conti · 2021 to 2026
$5.2MCeramides as novel drivers of metabolic dysfunction and colorectal cancerU01CA272529 · NCI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Mary Christine Playdon, SCOTT A SUMMERS · 2022 to 2026
$4.7MTranscriptome-wide association study to identify susceptibility genes for colorectal cancerR37CA227130 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GUO, XINGYI · 2018 to 2023
$3.7MIntegration of epidemiology, pathology, immunology and outcomes in colorectal cancerR01CA263318 · NCI · BECKMAN RESEARCH INSTITUTE/CITY OF HOPE · PI STEPHEN B GRUBER · 2022 to 2026
$3.4MColorectal cancer risk loci: GWAS, fine-mapping, and functional analysisR01CA188214 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI LONG, JIRONG, ZHENG, WEI · 2014 to 2018
$3.1MNCATS NIH HHS UL1 TR001863NCI NIH HHS P01 CA196569NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA068485NCI NIH HHS R01 CA188214NCI NIH HHS R01 CA263318NCI NIH HHS R01 CA269589NCI NIH HHS R37 CA227130NCI NIH HHS U01 CA167551NCI NIH HHS U01 CA206110NCI NIH HHS U01 CA261339NCI NIH HHS U01 CA272529NIEHS NIH HHS P30 ES010126U.S. Department of Health & Human Services | National Institutes of Health (NIH) R01CA188214U.S. Department of Health & Human Services | National Institutes of Health (NIH) R37CA227130World Health Organization 001
Abstract
Genome-wide association studies (GWAS) have identified more than 200 common genetic variants independently associated with colorectal cancer (CRC) risk, but the causal variants and target genes are mostly unknown. We sought to fine-map all known CRC risk loci using GWAS data from 100,204 cases and 154,587 controls of East Asian and European ancestry. Our stepwise conditional analyses revealed 238 independent association signals of CRC risk, each with a set of credible causal variants (CCVs), of which 28 signals had a single CCV. Our cis-eQTL/mQTL and colocalization analyses using colorectal tissue-specific transcriptome and methylome data separately from 1299 and 321 individuals, along with functional genomic investigation, uncovered 136 putative CRC susceptibility genes, including 56 genes not previously reported. Analyses of single-cell RNA-seq data from colorectal tissues revealed 17 putative CRC susceptibility genes with distinct expression patterns in specific cell types. Analyses of whole exome sequencing data provided additional support for several target genes identified in this study as CRC susceptibility genes. Enrichment analyses of the 136 genes uncover pathways not previously linked to CRC risk. Our study substantially expanded association signals for CRC and provided additional insight into the biological mechanisms underlying CRC development.
Indexed as
Colorectal NeoplasmsEast Asian PeopleGenetic Predisposition to DiseaseGenome-Wide Association StudyPolymorphism, Single NucleotideQuantitative Trait LociWhite PeopleCase-Control StudiesChromosome MappingExome SequencingFemaleHumansMaleTranscriptome
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Read underepoch 390
Registered trials
NCT02328677ClinicalTrials.gov
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.