ArticleCancer cell2020
Comprehensive Analysis of Genetic Ancestry and Its Molecular Correlates in Cancer.
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Article in Cancer cell, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 210 papers, 4 of them syntheses that pooled it.
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210citing papers in PubMed, 4 pooled it
16.1field-weighted citation impact, top 1% of its field
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Who cites it
210 citing papers in PubMed, 4 syntheses or guidelines pooled it, 317 citations in OpenAlex.
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- Meta-analysis reveals differences in somatic alterations by genetic ancestry across common cancers.Nature genetics · 2025Pooled it
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- African ancestry and risk variants associated with triple-negative breast cancer susceptibility in African American women.Genome medicine · 2026Article
- African Pan Genome Contigs Expose Biologically Relevant Sequence Still Hidden from Human Reference Frameworks.bioRxiv : the preprint server for biology · 2026Article
- Comprehensive Molecular Characterization of High-Grade Endometrial Cancer in an Ancestrally Diverse Cohort.bioRxiv : the preprint server for biology · 2026Article
- eQTL analysis: A bridge from genome to mechanism.Genes & diseases · 2026Review
- Correlation of the differential expression of PIK3R1 and its spliced variant, p55α, in pan-cancer.Molecular oncology · 2026Article
- Global impact of germline structural variation on the cancer proteome.Nature communications · 2026Article
- Improved tumor-only variant calling and mutation burden estimation with VarNet-T.Nature communications · 2026Article
150 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
30 authors at 17 institutions in 3 countries.
Jian Carrot-ZhangThe Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA; Harvard Medical School, Boston, MA 02115, USA.
Nyasha ChambweInstitute for Systems Biology, Seattle, WA 98109, USA.
Jeffrey S DamrauerLineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Theo A KnijnenburgInstitute for Systems Biology, Seattle, WA 98109, USA.
A Gordon RobertsonBritish Columbia Cancer Agency, Genome Sciences Centre, Vancouver, BC V5Z4S6, Canada.
Christina YauBuck Institute for Research on Aging, Novato, CA 94945, USA; Department of Surgery, University of California, San Francisco, San Francisco, CA 94115, USA.
Wanding ZhouVan Andel Research Institute, Grand Rapids, MI 49503, USA.
Ashton C BergerThe Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA.
Kuan-Lin HuangDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Justin Y NewbergFoundation Medicine, Cambridge, MA 02141, USA.
R Jay MashlDepartment of Medicine, Washington University in St. Louis, St. Louis, MO 63110, USA.
Alessandro RomanelDepartment of Cellular, Computational and Integrative Biology (CIBIO), University of Trento, Via Sommarive 9, 38123 Povo (Trento), Italy.
Rosalyn W SayamanDepartment of Laboratory Medicine, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Population Sciences, Beckman Research Institute, City of Hope, Duarte, CA 91010, USA.
Francesca DemichelisDepartment of Cellular, Computational and Integrative Biology (CIBIO), University of Trento, Via Sommarive 9, 38123 Povo (Trento), Italy.
Ina FelauNational Cancer Institute, Bethesda, MD 20892, USA.
Garrett M FramptonFoundation Medicine, Cambridge, MA 02141, USA.
Seunghun HanDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA; Harvard Medical School, Boston, MA 02115, USA.
Katherine A HoadleyLineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Anab KemalNational Cancer Institute, Bethesda, MD 20892, USA.
Peter W LairdVan Andel Research Institute, Grand Rapids, MI 49503, USA.
Alexander J LazarDepartments of Pathology, Genomic Medicine, and Translational Molecular Pathology, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, USA.
Xiuning LeDepartment of Thoracic and Head and Neck Medical Oncology, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, USA.
Ninad OakDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Hui ShenVan Andel Research Institute, Grand Rapids, MI 49503, USA.
Christopher K WongUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.
Jean C ZenklusenNational Cancer Institute, Bethesda, MD 20892, USA.
Elad ZivDepartment of Laboratory Medicine, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94143, USA.
Cancer Genome Atlas Analysis Network
Andrew D CherniackThe Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA; Harvard Medical School, Boston, MA 02115, USA. Electronic address: achernia@broadinstitute.org.
Rameen BeroukhimThe Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA; Harvard Medical School, Boston, MA 02115, USA; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA 02215, USA. Electronic address: rameen_beroukhim@dfci.harvard.edu.
Broad Institute · USVan Andel Institute · USNational Cancer Institute · USFoundation Medicine (United States)Institute for Systems Biology · USThe University of Texas MD Anderson Cancer Center · USUniversity of California, San Francisco · USUniversity of North Carolina at Chapel Hill · USUniversity of Trento · ITBC Cancer Agency · CABuck Institute for Research on Aging · USDana-Farber Cancer Institute · USHarvard University · USIcahn School of Medicine at Mount Sinai · USSt. Jude Children's Research Hospital · USUniversity of California, Santa Cruz · USWashington University in St. Louis · US
Funding
UNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Melissa A. Troester · 2001 to 2026
$36.3MGlobal Infrastructure for Collaborative High-throughput Cancer Genomics AnalysisU24CA210999 · NCI · BROAD INSTITUTE, INC. · PI GETZ, GAD A · 2016 to 2020
$4.7MVisualization hub for genomics data exploration and translational discoveryU24CA210974 · NCI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI COLLISSON, ERIC, HAUSSLER, DAVID H · 2016 to 2020
$4.2MGermline and Tumor Genomic Analyses of Breast Cancer in LatinasR01CA184585 · NCI · BECKMAN RESEARCH INSTITUTE/CITY OF HOPE · PI NEUHAUSEN, SUSAN L., ZIV, ELAD · 2014 to 2018
$4.2M(PQ3) A functional genomic approach to identification and interpretation of germline-tumor genetic interactionsR01CA227237 · NCI · DANA-FARBER CANCER INST · PI GUSEV, ALEXANDER, ZAITLEN, NOAH A · 2018 to 2022
$3.5M(8) Genetics of Immune Related Adverse Events and Response to ImmunotherapyR01CA227466 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ZIV, ELAD · 2018 to 2023
$3.3MThe identification and validation of mechanisms and biomarkers for relapse in diffuse large B-cell lymphoma (Administrative Supplement)R01CA194547 · NCI · WEILL MEDICAL COLL OF CORNELL UNIV · PI ELEMENTO, OLIVIER, TAM, WAYNE · 2015 to 2019
$2.6MIntegrative Cancer Epigenomic Data Analysis Center (ICE-DAC)U24CA210969 · NCI · VAN ANDEL RESEARCH INSTITUTE · PI LAIRD, PETER W · 2016 to 2020
$2.5MThe joint WCM-NYGC Center for Functional and Clinical Interpretation of Tumor ProfilesU24CA210989 · NCI · WEILL MEDICAL COLL OF CORNELL UNIV · PI ELEMENTO, OLIVIER, ZODY, MICHAEL C · 2016 to 2020
$2.4MCenter for the comprehensive analysis of somatic copy-number alterations in cancerU24CA210978 · NCI · BROAD INSTITUTE, INC. · PI BEROUKHIM, RAMEEN, CHERNIACK, ANDREW DAVID · 2016 to 2020
$2.3MUCSC-Buck Specialized Genomic Data Analysis Center for the Genomic Data Analysis NetworkU24CA210990 · NCI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI STUART, JOSHUA MICHAEL · 2016 to 2020
$2.2MOHSU Center for Specialized Data Analysis as part of the GDANU24CA210957 · NCI · OREGON HEALTH & SCIENCE UNIVERSITY · PI DEMIR, EMEK, SPELLMAN, PAUL T. · 2016 to 2020
$2.2MNCI NIH HHS K24 CA169004NCI NIH HHS R01 CA184585NCI NIH HHS R01 CA194547NCI NIH HHS R01 CA227237NCI NIH HHS R01 CA227466NCI NIH HHS T32 CA221709NCI NIH HHS U24 CA210949NCI NIH HHS U24 CA210950NCI NIH HHS U24 CA210952NCI NIH HHS U24 CA210957NCI NIH HHS U24 CA210969NCI NIH HHS U24 CA210974NCI NIH HHS U24 CA210978NCI NIH HHS U24 CA210988NCI NIH HHS U24 CA210989NCI NIH HHS U24 CA210990NCI NIH HHS U24 CA210999NCI NIH HHS U24 CA211000NCI NIH HHS U24 CA211006NCI NIH HHS U24 CA264027NIEHS NIH HHS P30 ES010126
Abstract
We evaluated ancestry effects on mutation rates, DNA methylation, and mRNA and miRNA expression among 10,678 patients across 33 cancer types from The Cancer Genome Atlas. We demonstrated that cancer subtypes and ancestry-related technical artifacts are important confounders that have been insufficiently accounted for. Once accounted for, ancestry-associated differences spanned all molecular features and hundreds of genes. Biologically significant differences were usually tissue specific but not specific to cancer. However, admixture and pathway analyses suggested some of these differences are causally related to cancer. Specific findings included increased FBXW7 mutations in patients of African origin, decreased VHL and PBRM1 mutations in renal cancer patients of African origin, and decreased immune activity in bladder cancer patients of East Asian origin.
Indexed as
DNA MethylationGenetic Predisposition to DiseaseMutationDNA-Binding ProteinsEthnicityF-Box-WD Repeat-Containing Protein 7Gene Expression Regulation, NeoplasticGenetics, PopulationGenome, HumanGenomicsHigh-Throughput Nucleotide SequencingHumansMicroRNAsNeoplasm ProteinsNeoplasmsTranscription FactorsDNA-Binding ProteinsF-Box-WD Repeat-Containing Protein 7FBXW7 protein, humanMicroRNAsNeoplasm ProteinsPBRM1 protein, humanTranscription FactorsVHL protein, humanVon Hippel-Lindau Tumor Suppressor ProteinadmixtureancestrycancereQTLgenomicsmethylationmiRNAmRNAmutationTCGA
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