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Article

Multifocal, multiphenotypic tumours arising from an MTOR mutation acquired in early embryogenesis.

Oncogene - 1 Oct 2024

Pacyna Clarissa N, Anandapadamanaban Madhanagopal, Loudon Kevin W, Hay Iain M, Perisic Olga, Li Ruoyan, Byrne Matthew, Allen Laura, Roberts Kirsty, Hooks Yvette, Warren Anne Y, Stewart Grant D, Clatworthy Menna R, Teichmann Sarah A, Behjati Sam, Campbell Peter J, Williams Roger L, Mitchell Thomas J

Abstract excerpt

Embryogenesis is a vulnerable time. Mutations in developmental cells can result in the wide dissemination of cells predisposed to disease within mature organs. We characterised the evolutionary history of four synchronous renal tumours from a 14-year-old girl using whole genome sequencing alongside single cell and bulk transcriptomic sequencing. Phylogenetic reconstruction timed the origin of all tumours to a...

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Share to Embryonic Development
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mechanistic Target of Rapamycin Complex 1

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Source

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Identifiers

PMID: 39271965
DOI: 10.1038/s41388-024-03137-7
PMCID: PMC11518995

Genes

MTOR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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