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Article

Notch1 mutations drive clonal expansion in normal esophageal epithelium but impair tumor growth.

Nature genetics - 1 Feb 2023

Abby Emilie, Dentro Stefan C, Hall Michael W J, Fowler Joanna C, Ong Swee Hoe, Sood Roshan, Herms Albert, Piedrafita Gabriel, Abnizova Irina, Siebel Christian W, Gerstung Moritz, Hall Benjamin A, Jones Philip H

Abstract excerpt

NOTCH1 mutant clones occupy the majority of normal human esophagus by middle age but are comparatively rare in esophageal cancers, suggesting NOTCH1 mutations drive clonal expansion but impede carcinogenesis. Here we test this hypothesis. Sequencing NOTCH1 mutant clones in aging human esophagus reveals frequent biallelic mutations that block NOTCH1 signaling. In mouse esophagus, heterozygous Notch1 mutation...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36658434
DOI: 10.1038/s41588-022-01280-z
PMCID: PMC9925379

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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