ArticleNature communications2022
Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures.
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Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20citing papers in PubMed
2.8field-weighted citation impact, top 7% of its field
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Who cites it
20 citing papers in PubMed, 31 citations in OpenAlex.
- Biochemical, structural and mutational landscapes of base excision repair enzymes and cancer: from atomic resolution to tumor signatures.International journal of radiation biology · 2026Review
- Germline haploinsufficiency of MUTYH causes mutational signature SBS18 in multiple tumour types and specifically raises colorectal cancer risk.NPJ precision oncology · 2026Article
- The Role of Molecular Testing in Head and Neck Squamous Cell Carcinoma of Unknown Primary.Head and neck pathology · 2026Review
- KRAS-G12C: The neglected biomarker to detect patients with MUTYH-associated polyposis.International journal of cancer · 2026Article
- Frequent Detection ofHuman mutation · 2026Article
- Double jeopardy: howFrontiers in cell and developmental biology · 2026Review
- Genetics, genomics and clinical features of adenomatous polyposis.Familial cancer · 2025Review
- Precision genome editing and in-cell measurements of oxidative DNA damage repair enable functional and mechanistic characterization of cancer-associated MUTYH variants.Nucleic acids research · 2025Article
- Article
- A review on trends in development and translation of omics signatures in cancer.Computational and structural biotechnology journal · 2024Review
- Adenomas from individuals with pathogenic biallelic variants in themedRxiv : the preprint server for health sciences · 2024Article
- Increased KRAS G12C Prevalence, High Tumor Mutational Burden, and Specific Mutational Signatures Are Associated With MUTYH Mutations: A Pan-Cancer Analysis.The oncologist · 2024Article
- Phenotype Correlations With Pathogenic DNA Variants in theHuman mutation · 2024Review
- Article
- Review
- Assigning mutational signatures to individual samples and individual somatic mutations with SigProfilerAssignment.bioRxiv : the preprint server for biology · 2023Article
- A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.Journal of translational medicine · 2023Article
- A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.medRxiv : the preprint server for health sciences · 2023Article
- Evaluating Multiple Next-Generation Sequencing-Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status.The Journal of molecular diagnostics : JMD · 2023Article
- DNA damage and somatic mutations in mammalian cells after irradiation with a nail polish dryer.Nature communications · 2023Article
Corrections and comments
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Authors and funding
52 authors at 20 institutions in 8 countries.
Peter GeorgesonColorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, VIC, 3010, Australia.ORCID 0000-0002-5096-4735
Tabitha A HarrisonPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Bernard J PopeColorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, VIC, 3010, Australia.ORCID 0000-0002-4840-1095
Syed H ZaidiOntario Institute for Cancer Research, Toronto, ON, Canada.
Conghui QuPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Robert S SteinfelderPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Yi LinPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Jihoon E JooColorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, VIC, 3010, Australia.
Khalid MahmoodColorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, VIC, 3010, Australia.
Mark ClendenningColorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, VIC, 3010, Australia.
Romy WalkerColorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, VIC, 3010, Australia.
Efrat L AmitayDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.ORCID 0000-0002-8585-7622
Sonja I BerndtDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Peter T CampbellDepartment of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, USA.
Yin CaoDivision of Public Health Sciences, Department of Surgery, Washington University School of Medicine, St Louis, MO, USA.
Andrew T ChanClinical and Translational Epidemiology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-7284-6767
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.ORCID 0000-0001-8919-1971
Kimberly F DohenyCenter for Inherited Disease Research (CIDR), Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0001-8806-5738
David A DrewClinical and Translational Epidemiology Unit, Massachusetts General Hospital and 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 FrenchDivision of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Steven GallingerOntario Institute for Cancer Research, Toronto, ON, Canada.
Marios GiannakisBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-9012-6982
Graham G GilesCancer Epidemiology Division, Cancer Council Victoria, Melbourne, VIC, Australia.ORCID 0000-0003-4946-9099
Andrea GsurInstitute of Cancer Research, Department of Medicine I, Medical University Vienna, Vienna, Austria.ORCID 0000-0002-9795-1528
Marc J GunterNutrition and Metabolism Branch, International Agency for Research on Cancer, World Health Organization, Lyon, France.
Michael HoffmeisterDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.ORCID 0000-0002-8307-3197
Li HsuPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Wen-Yi HuangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-4440-3368
Paul LimburgDivision of Gastroenterology & Hepatology, Mayo Clinic, Rochester, MN, USA.
JoAnn E MansonDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Victor MorenoOncology Data Analytics Program, Catalan Institute of Oncology-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.ORCID 0000-0002-2818-5487
Rami NassirDepartment of Pathology, College of Medicine, Umm Al-Qura University, Mecca, Saudi Arabia.
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, Catalan Institute of Oncology-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.
Shuji OginoBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-3909-2323
Amanda I PhippsPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
John D PotterPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.ORCID 0000-0001-5439-1500
Robert E SchoenDepartment of Medicine and Epidemiology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.ORCID 0000-0001-7153-2766
Wei SunPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.ORCID 0000-0002-6350-1107
Amanda E TolandDepartments of Cancer Biology and Genetics and Internal Medicine, Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA.ORCID 0000-0002-0271-1792
Quang M TrinhOntario Institute for Cancer Research, Toronto, ON, Canada.ORCID 0000-0002-3602-2290
Tomotaka UgaiDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Finlay A MacraeParkville Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC, Australia.
Christophe RostyColorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, VIC, 3010, Australia.
Thomas J HudsonOntario Institute for Cancer Research, Toronto, ON, Canada.ORCID 0000-0002-1376-4849
Mark A JenkinsUniversity of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC, 3010, Australia.ORCID 0000-0002-8964-6160
Stephen N ThibodeauDivision of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Ingrid M WinshipGenomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, VIC, Australia.
Ulrike PetersPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.ORCID 0000-0001-5666-9318
Daniel D BuchananColorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, VIC, 3010, Australia. daniel.buchanan@unimelb.edu.au.ORCID 0000-0003-2225-6675
The University of Melbourne · AUFred Hutch Cancer Center · USOntario Institute for Cancer Research · CABrigham and Women's Hospital · USBroad Institute · USGerman Cancer Research Center · DEThe Royal Melbourne Hospital · AUUniversity of Washington · USInstitut d'Investigació Biomédica de Bellvitge · ESMayo Clinic · USNational Institutes of Health · USAlbert Einstein College of Medicine · USBarnes-Jewish Hospital · USCentre international de recherche sur le cancer · FRHarvard University · USJohns Hopkins University · USMayo Clinic in Arizona · USThe Ohio State University · USThe University of Queensland · AUUmm al-Qura University · SA
Funding
Molecular pathological epidemiology of colorectal cancerU01CA137088 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI PETERS, ULRIKE · 2009 to 2018
$21.8MData sharing: the Colon Cancer Family Registry CohortU01CA167551 · NCI · UNIVERSITY OF MELBOURNE · PI Daniel David BUCHANAN, Steven Gallinger · 2018 to 2026
$16.8MMethods for Analyzing Cancer Somatic Mutation DataR01CA223498 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI HE, QIANCHUAN · 2018 to 2022
$2.0MNCI NIH HHS R01 CA223498NCI NIH HHS U01 CA137088World Health Organization 001
Abstract
Carriers of germline biallelic pathogenic variants in the MUTYH gene have a high risk of colorectal cancer. We test 5649 colorectal cancers to evaluate the discriminatory potential of a tumor mutational signature specific to MUTYH for identifying biallelic carriers and classifying variants of uncertain clinical significance (VUS). Using a tumor and matched germline targeted multi-gene panel approach, our classifier identifies all biallelic MUTYH carriers and all known non-carriers in an independent test set of 3019 colorectal cancers (accuracy = 100% (95% confidence interval 99.87-100%)). All monoallelic MUTYH carriers are classified with the non-MUTYH carriers. The classifier provides evidence for a pathogenic classification for two VUS and a benign classification for five VUS. Somatic hotspot mutations KRAS p.G12C and PIK3CA p.Q546K are associated with colorectal cancers from biallelic MUTYH carriers compared with non-carriers (p = 2 × 10
Indexed as
Colorectal NeoplasmsDNA GlycosylasesDNA Mutational AnalysisGenetic Predisposition to DiseaseGerm-Line MutationHeterozygoteHumansMutationDNA Glycosylases
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