Article

A germline SETD2 variant and malignant phyllodes tumor: extending the spectrum of SETD2-related tumor predisposition

2025-12-11

Abstract excerpt

<title>Abstract</title> <p>The SETD2 gene, located on chromosome 3p21.31, encodes a histone methyltransferase responsible for trimethylation of histone H3 at lysine 36 (H3K36me3), a key epigenetic modification involved in transcriptional regulation and DNA repair. Germline SETD2 variants are known to cause SETD2-related disorders characterized by neurodevelopmental delay, intellectual disability, and variable gro...

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Literature Corpus work: d5a20f86-8bc3-51b8-a67d-4a4a46c2bf62
DOI: 10.21203/rs.3.rs-7804267/v1

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