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Article

Melanoma in a patient with DNMT3A overgrowth syndrome.

Cold Spring Harbor molecular case studies - 1 Apr 2023

Chen David Y, Sutton Leslie A, Ramakrishnan Sai Mukund, Duncavage Eric J, Heath Sharon E, Compton Leigh A, Miller Christopher A, Ley Timothy J

Abstract excerpt

Alterations in epigenetic regulators are increasingly recognized as early events in tumorigenesis; thus, patients with acquired or inherited variants in epigenetic regulators may be at increased risk for developing multiple types of cancer. DNMT3A overgrowth syndrome (DOS), caused by germline pathogenic variants in the DNA methyltransferase gene DNMT3A, has been associated with a predisposition toward development...

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Identifiers

PMID: 37160317
DOI: 10.1101/mcs.a006267
PMCID: PMC10240841

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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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