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Article

The spectrum of pathogenic NF1 variants in participants enrolling on clinical trials of MEK inhibitors for plexiform neurofibroma.

Human genetics - 1 Dec 2025

Kotch Chelsea, Gomes Alicia, Schatz Krista S, Dombi Eva, Brown Symone, Gross Andrea M, Alves Mélanie, Perreault Sébastien, Mueller Sabine, Reddy Alyssa T, Romo Carlos, Bornhorst Miriam, Tonsgard James, Weiss Brian D, Widemann Brigitte, Fisher Michael J

Abstract excerpt

Patients with neurofibromatosis type 1 (NF1) enrolled on interventional clinical trials of a mitogen activated protein kinase (MEK) inhibitor for a plexiform neurofibroma (PN) are required to have inoperable, progressive and/or symptomatic tumor as per protocol inclusion criteria. Thus, the represented germline pathogenic NF1 variants of these clinical trial participants may correlate with increased risk for...

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Identifiers

PMID: 41091164
DOI: 10.1007/s00439-025-02786-2
PMCID: PMC13409318

Genes

NF1

Variants

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