Evidence map›Paper›PMID 41413856›Full record

ArticleBMC cancer2025

Genomic characterization of colorectal tumors: insights into significantly mutated genes, pathways, and survival outcomes.

Tabitha A Harrison, Syed H Zaidi, Hang Yin, Robert S Steinfelder, Conghui Qu, Elom K Aglago, Sonja I Berndt, Lisa A Boardman, Hermann Brenner, Daniel D Buchanan and 42 more

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Article in BMC cancer, 2025. 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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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

52 authors.

Tabitha A Harrison *Public Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA. haratabi@uw.edu.
Syed H Zaidi *Ontario Institute for Cancer Research, Toronto, ON, Canada.
Hang Yin *Public Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Robert S SteinfelderPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Conghui QuPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Elom K AglagoDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.
Sonja I BerndtDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Lisa A BoardmanComprehensive Cancer Center, Mayo Clinic, Rochester, MN, USA.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Daniel D BuchananColorectal Oncogenomics Group, Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, Australia.
Peter T CampbellDepartment of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, USA.
Yin CaoDepartment of Surgery, Division of Public Health Sciences, Washington University School of Medicine, St Louis, MO, USA.
Andrew T ChanDivision of Gastroenterology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Kimberly F DohenyCenter for Inherited Disease Research (CIDR), Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
David A DrewDivision of Gastroenterology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Jane C FigueiredoDepartment of Medicine, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Amy J FrenchDepartment of Laboratory Medicine and Pathology, Division of Laboratory Genetics, Mayo Clinic, Rochester, MN, USA.
Steven GallingerLunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.
Peter GeorgesonColorectal Oncogenomics Group, Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, Australia.
Marios GiannakisDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Ellen L GoodeDepartment of Quantitative Health Sciences, Division of Epidemiology, Mayo Clinic, Rochester, MN, USA.
Stephen B GruberDepartment of Medical Oncology and Therapeutics Research and Center for Precision Medicine, City of Hope National Medical Center, Duarte, CA, USA.
Andrea GsurCenter for Cancer Research, Medical University of Vienna, Vienna, Austria.
Marc J GunterDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.
Sophia HarlidDepartment of Diagnostics and Intervention, Oncology Unit, Umeå University, Umeå, Sweden.
Michael HoffmeisterDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Wen-Yi HuangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Meredith Aj HullarPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Jeroen R HuyghePublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Mark A JenkinsCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Yi LinPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Victor MorenoOncology Data Analytics Program (ODAP), Unit of Biomarkers and Suceptibility (UBS), Catalan Institute of Oncology (ICO), L'Hospitalet de Llobregat, Barcelona, Spain.
Neil MurphyNutrition and Metabolism Branch, International Agency for Research on Cancer, World Health Organization, Lyon, France.
Polly A NewcombPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Christina C NewtonDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Jonathan A NowakProgram in MPE Molecular Pathological Epidemiology, Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Mireia Obón-SantacanaOncology Data Analytics Program (ODAP), Unit of Biomarkers and Suceptibility (UBS), Catalan Institute of Oncology (ICO), L'Hospitalet de Llobregat, Barcelona, Spain.
Shuji OginoBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Tameka ShelfordCenter for Inherited Disease Research (CIDR), Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Mingyang SongDepartments of Epidemiology and Nutrition, Harvard T.H. Chan School of Public Health, Harvard University, Boston, MA, USA.
Claire E ThomasPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Amanda E TolandDepartments of Cancer Biology and Genetics and Internal Medicine, Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA.
Tomotaka UgaiDepartment of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Caroline Y UmDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Bethany Van GuelpenDepartment of Diagnostics and Intervention, Oncology Unit, Umeå University, Umeå, Sweden.
Quang M TrinhOntario Institute for Cancer Research, Toronto, ON, Canada.
Wei SunPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Thomas J HudsonOntario Institute for Cancer Research, Toronto, ON, Canada.
Li HsuPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Ulrike Peters *Public Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA. upeters@fredhutch.org.
Amanda I Phipps *Public Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.

Funding

Validity of Diet and Activity Measures in WomenP01CA055075 · NCI · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI FUCHS, CHARLES S · 1991 to 2009
$41.8M
JH/CIDR Genotyping for Genome-Wide Association StudiesU01HG004438 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2007 to 2011
$24.2M
Molecular pathological epidemiology of colorectal cancerU01CA137088 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI PETERS, ULRIKE · 2009 to 2018
$21.8M
Cancer Epidemiology Cohort in Male Health ProfessionalsU01CA167552 · NCI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI Lorelei Mucci, Walter C. Willett · 2017 to 2026
$17.0M
Data sharing: the Colon Cancer Family Registry CohortU01CA167551 · NCI · UNIVERSITY OF MELBOURNE · PI Daniel David BUCHANAN, Steven Gallinger · 2018 to 2026
$16.8M
ONTARIO REGISTRY FOR STUDIES OF FAMILIAL COLON CANCERU01CA074783 · NCI · CANCER CARE ONTARIO · PI GALLINGER, STEVEN · 1997 to 2008
$12.5M
Detection of Colorectal Cancer Susceptibility Loci Using Genome-Wide SequencingU01CA164930 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI PETERS, ULRIKE · 2012 to 2015
$12.4M
Cancer Epidemiology Cohort in Male Health ProfessionalsUM1CA167552 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI WILLETT, WALTER C. · 2012 to 2016
$11.5M
Genome-Wide Association Study of Nonsynonymous SNPs in Colon CancerR01CA059045 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI PETERS, ULRIKE · 1994 to 2011
$11.5M
Transdisciplinary Studies of Genetic Variation in Colorectal CancerU19CA148107 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI GRUBER, STEPHEN B · 2010 to 2014
$11.1M
Spatial Immunopathological Epidemiology of Colorectal Adenoma-Carcinoma SpectrumR01CA248857 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI Jonathan Andrew Nowak, Shuji Ogino · 2020 to 2026
$6.6M
Genome Wide Association Coordinating CenterU01HG004446 · NHGRI · UNIVERSITY OF WASHINGTON · PI WEIR, BRUCE S. · 2007 to 2011
$6.6M
Agència de Gestió d'Ajuts Universitaris i de Recerca 2017SGR723Austrian Research Funding Agency (FFG) BRIDGE 829675Center for Inherited Disease Research HHSN268201700006ICentro de Investigación Biomédica en Red de Epidemiología y Salud Pública GenriskCOST Action BM1206Deutsche Forschungsgemeinschaft BR 1704/6-1, BR 1704/6-3, BR 1704/6-4, CH 117/1-1, HO 5117/2-1, HE 5998/2-1, KL 2354/3-1, RO 2270/8-1, BR 1704/17-1Federación Española de Enfermedades Raras PI14-613Fundación Científica Asociación Española Contra el Cáncer GCTRA18022MOREGerman Federal Ministry of Education and Research 01KH0404, 01ER0814, 01ER0815, 01ER1505A, 01ER1505B, 01KD2104AInstitut Catala d'Oncologia PT13/0010/0013 and ICOBIOBANCIntramural NIH HHS Z01 CP010200Junta de Castilla y León LE22A10-2National Health and Medical Research Council 509348, 209057, 251553, 504711NCI NIH HHS P01 CA055075NCI NIH HHS R01 CA059045NCI NIH HHS R01 CA137178NCI NIH HHS R01 CA151993NCI NIH HHS R01 CA215151NCI NIH HHS R01 CA248857NCI NIH HHS R01 CA285851NCI NIH HHS R35 CA197735NCI NIH HHS U01 CA074783NCI NIH HHS U01 CA137088NCI NIH HHS U01 CA164930NCI NIH HHS U01 CA167551NCI NIH HHS U01 CA167552NCI NIH HHS U01 CA261961NCI NIH HHS U19 CA148107NCI NIH HHS U24 CA074783NCI NIH HHS UM1 CA167552NHGRI NIH HHS U01 HG004438NHGRI NIH HHS U01 HG004446NHLBI NIH HHS HHSN268201700006CU.S. Department of Health and Human Services P01 CA055075, UM1 CA167552, U01 CA167552, R01 CA137178, R01 CA151993, R35 CA197735U.S. Department of Health and Human Services R01 CA068535U.S. Department of Health and Human Services U01 CA137088, R01 CA059045, U01 CA164930, R01 CA248857U.S. Department of Health and Human Services U01/U24 CA074783U.S. Department of Health and Human Services Z01 CP 010200, U01 HG004446, U01 HG 004438World Health Organization 001
6 · The paper itself

Abstract

backgroundIdentifying significantly mutated genes in tumors aids in understanding disease etiology and survival and may aid in the discovery of new drug targets. We aimed to detect and characterize mutated genes from a large, well-characterized group of colorectal cancers.

methodsIn tumor and paired normal samples from 6,111 colorectal patients, we sequenced 199 genes identified from whole exome sequencing of over 1,100 tumors. Analyses focused on non-silent mutations. We classified significantly mutated genes after stratification by hypermutation status, and estimated associations of mutated genes/pathways with disease-specific (DS)-survival using Cox regression, adjusting for age, sex, mutation burden, hypermutation status, and study while accounting for multiple comparisons (n = 4,874).

resultsWe identified 57 genes that were significantly mutated in colorectal cancer, including 9 that were not previously reported. Among individual genes, only BRAF p.V600E mutations were significantly associated with poorer survival after correction for multiple testing (HR 1.96, P = 2.07 × 10

conclusionsWe identified 9 significantly mutated genes, some of which are known drug targets. Among individual genes, only the BRAF p.V600E mutation was significantly associated with DS-survival, suggesting a limited survival impact from mutations driving colorectal cancer development.

Indexed as

Biomarkers, TumorColorectal NeoplasmsMutationAdultAgedAged, 80 and overExome SequencingFemaleGenomicsHumansMaleMiddle AgedPrognosisProto-Oncogene Proteins B-rafSignal TransductionBiomarkers, TumorBRAF protein, humanProto-Oncogene Proteins B-rafColorectal neoplasmSomatic mutationsSurvivalTargeted sequencing

Identifiers

PMID41413856
PMCPMC12831426

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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.