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DNMT3A R882C variant in a patient with a presumed pineal gland tumor, highlighting potential tumor susceptibility in Tatton-Brown-Rahman syndrome.

Cancer genetics - 1 Apr 2026

Ferreira Leonardo, Sorrell Michelle, Raskin Scott I, Kim Sun Young

Abstract excerpt

Tatton-Brown-Rahman syndrome (TBRS) is a rare overgrowth disorder caused by germline alterations in DNMT3A, a gene essential for DNA methylation and epigenetic regulation. Affected individuals typically present with tall stature, intellectual disability, and neurodevelopmental disorders, and they also demonstrate an increased susceptibility to neoplastic disease. Reported tumors include hematologic malignancies,...

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Source

Identifiers

PMID: 41764803
DOI: 10.1016/j.cancergen.2026.02.005

Genes

DNMT3A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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