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Article

TSC angiofibroma and ungual fibroma have different mutation signatures, with recurrent mutations in KMT2C.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2025

Klonowska Katarzyna, Lee John, Drzewiecki Marcin, Grevelink Joannes M, Boeszoermenyi Barbara, Kozlowski Piotr, Hanna John, Laga Alvaro C, Kwiatkowski David J

Abstract excerpt

PURPOSE: Tuberous sclerosis complex (TSC) is an autosomal dominant tumor suppressor syndrome characterized by tumors affecting multiple tissues, including skin, due to inactivating TSC1/TSC2 variants. Genome-wide profiling of somatic mutations in a unique collection of angiofibroma (FAF) and ungual fibroma (UF) TSC skin tumors was performed. METHODS: Genome sequencing was performed on 9 samples, comprising 4 FAF...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40714908
DOI: 10.1016/j.gim.2025.101538

Genes

KMT2C
TG
TSC1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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