ArticleCancer discovery2022
Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain.
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Article in Cancer discovery, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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0cells of the map it votes in
30citing papers in PubMed
4.4field-weighted citation impact, top 5% of its field
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Who cites it
30 citing papers in PubMed, 46 citations in OpenAlex.
- Ras-MAPK somatic variants in mesial temporal lobe epilepsy.Current opinion in genetics & development · 2026Review
- Somatic mosaicism in the brain: linking development, ageing and neurodegeneration.Nature reviews. Neurology · 2026Review
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- Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsy.bioRxiv : the preprint server for biology · 2026Article
- Glioblastoma in adults: A Society for Neuro-Oncology (SNO) and European Society of Neuro-Oncology (EANO) consensus review on current management and future directions.Neuro-oncology · 2025Review
- Cell sorting based on single nucleotide variation enables characterization of mutation-dependent transcriptome and chromatin states.Nucleic acids research · 2025Article
- Mutant IDH impairs chromatin binding by PDGFB to promote chromosome instability.bioRxiv : the preprint server for biology · 2025Article
- TRIM28-dependent developmental heterogeneity determines cancer susceptibility through distinct epigenetic states.Nature cancer · 2025Article
- Discontiguous recurrences of IDH-wildtype glioblastoma share a common origin with the initial tumor and are frequently hypermutated.Acta neuropathologica communications · 2025Article
- Landscape of human protein-coding somatic mutations across tissues and individuals.bioRxiv : the preprint server for biology · 2025Article
- Clones in blood and stratified epithelial cells, and their drivers.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2025Review
- Evolving cell states and oncogenic drivers during the progression of IDH-mutant gliomas.Nature cancer · 2025Article
- Emerging strategies to investigate the biology of early cancer.Nature reviews. Cancer · 2024Review
- Integrated electrophysiological and genomic profiles of single cells reveal spiking tumor cells in human glioma.Cancer cell · 2024Article
- IDH inhibition in gliomas: from preclinical models to clinical trials.Nature reviews. Neurology · 2024Review
- Clonal expansion in normal tissues.Cancer science · 2024Review
- Article
- Brain injury drives optic glioma formation through neuron-glia signaling.Acta neuropathologica communications · 2024Article
- Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer's disease microglia.bioRxiv : the preprint server for biology · 2024Article
- Normal meninges harbor oncogenic somatic mutations in meningioma-driver genes.Acta neuropathologica · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 2 institutions in 1 country.
Javier Ganz *Division of Genetics and Genomics, Manton Center for Orphan Disease, Boston Children's Hospital, Boston, Massachusetts.ORCID 0000-0002-2370-9819
Eduardo A Maury *Division of Genetics and Genomics, Manton Center for Orphan Disease, Boston Children's Hospital, Boston, Massachusetts.ORCID 0000-0002-2211-8611
Basheer BecerraDivision of Genetics and Genomics, Manton Center for Orphan Disease, Boston Children's Hospital, Boston, Massachusetts.ORCID 0000-0003-4403-7959
Sara BizzottoDivision of Genetics and Genomics, Manton Center for Orphan Disease, Boston Children's Hospital, Boston, Massachusetts.
Ryan N DoanDivision of Genetics and Genomics, Manton Center for Orphan Disease, Boston Children's Hospital, Boston, Massachusetts.
Connor J KennyDivision of Genetics and Genomics, Manton Center for Orphan Disease, Boston Children's Hospital, Boston, Massachusetts.ORCID 0000-0001-6328-8935
Taehwan ShinDivision of Genetics and Genomics, Manton Center for Orphan Disease, Boston Children's Hospital, Boston, Massachusetts.ORCID 0000-0003-3604-8594
Junho KimDivision of Genetics and Genomics, Manton Center for Orphan Disease, Boston Children's Hospital, Boston, Massachusetts.
Zinan ZhouDivision of Genetics and Genomics, Manton Center for Orphan Disease, Boston Children's Hospital, Boston, Massachusetts.
Keith L LigonBroad Institute of MIT and Harvard, Cambridge, Massachusetts.
Eunjung Alice LeeDivision of Genetics and Genomics, Manton Center for Orphan Disease, Boston Children's Hospital, Boston, Massachusetts. Christopher.Walsh@childrens.harvard.edu Ealee@childrens.harvard.edu.
Christopher A WalshDivision of Genetics and Genomics, Manton Center for Orphan Disease, Boston Children's Hospital, Boston, Massachusetts. Christopher.Walsh@childrens.harvard.edu Ealee@childrens.harvard.edu.
Broad Institute · USBoston Children's Hospital · US
Funding
Medical Scientist Training ProgramT32GM007753 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI WALENSKY, LOREN DAVID · 1985 to 2021
$50.0MTargeting the Vasular SystemP50CA165962 · NCI · MASSACHUSETTS GENERAL HOSPITAL · PI Benjamin Harris Kann · 2013 to 2026
$33.5MRESEARCH TRAINING-MEDICAL INFORMATICS 90T15LM007092 · NLM · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI Nils Gehlenborg · 1992 to 2026
$32.8MTraining Program in Bioinformatics and Integrative GenomicsT32HG002295 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI Peter J Park · 2001 to 2026
$15.8MCell Identity Determination In Human Brain: Somatic Mutation and Cell LineageR01NS032457 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Alice Eunjung Lee, Christopher A. Walsh · 1995 to 2026
$12.7M1/2-Somatic mosaicism and autism spectrum disorderU01MH106883 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI PARK, PETER J, WALSH, CHRISTOPHER A. · 2015 to 2019
$9.2MGenetic evolution of glioblastomas during radiation and temozolomide therapyR01CA188228 · NCI · DANA-FARBER CANCER INST · PI BEROUKHIM, RAMEEN, CHAKRAVARTI, ARNAB · 2015 to 2025
$6.9MMouse Neurodevelopmental Behavior CoreU54HD090255 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SAHIN, MUSTAFA · 2016 to 2020
$5.2MRates and mechanisms of age-related somatic mutation in normal and Alzheimer brainR01AG070921 · NIA · BOSTON CHILDREN'S HOSPITAL · PI LEE, ALICE EUNJUNG, WALSH, CHRISTOPHER A. · 2021 to 2025
$4.3MMYB family alterations in pediatric gliomasR01CA215489 · NCI · DANA-FARBER CANCER INST · PI BEROUKHIM, RAMEEN, LIGON, KEITH LLOYD · 2017 to 2021
$2.8MMechanism for endogenous retroelements to mimic ancient exogenous identities in aging and diseased human tissueDP2AG072437 · NIA · BOSTON CHILDREN'S HOSPITAL · PI LEE, EUNJUNG ALICE · 2020 to 2020
$2.7MThe role of somatic mutation in neurodegenerative diseaseK01AG051791 · NIA · BRIGHAM AND WOMEN'S HOSPITAL · PI LEE, EUNJUNG ALICE · 2016 to 2020
$655kHoward Hughes Medical InstituteNCI NIH HHS P50 CA165962NCI NIH HHS R01 CA188228NCI NIH HHS R01 CA215489NHGRI NIH HHS T32 HG002295NIA NIH HHS DP2 AG072437NIA NIH HHS K01 AG051791NIA NIH HHS R01 AG070921NICHD NIH HHS U54 HD090255NIGMS NIH HHS T32 GM007753NIMH NIH HHS F31 MH124292NIMH NIH HHS U01 MH106883NINDS NIH HHS R01 NS032457NLM NIH HHS T15 LM007092
Abstract
Although oncogenic mutations have been found in nondiseased, proliferative nonneural tissues, their prevalence in the human brain is unknown. Targeted sequencing of genes implicated in brain tumors in 418 samples derived from 110 individuals of varying ages, without tumor diagnoses, detected oncogenic somatic single-nucleotide variants (sSNV) in 5.4% of the brains, including
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AdolescentAdultAgedAged, 80 and overAge FactorsBrainBrain NeoplasmsChildChild, PreschoolDNA Mutational AnalysisFemaleHumansInfantInfant, NewbornMaleMiddle Aged
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