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Article

Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.

Human molecular genetics - 15 Apr 2014

Tyburczy Magdalena E, Wang Ji-An, Li Shaowei, Thangapazham Rajesh, Chekaluk Yvonne, Moss Joel, Kwiatkowski David J, Darling Thomas N

Abstract excerpt

Tuberous sclerosis complex (TSC) is characterized by the formation of tumors in multiple organs and is caused by germline mutation in one of two tumor suppressor genes, TSC1 and TSC2. As for other tumor suppressor gene syndromes, the mechanism of somatic second-hit events in TSC tumors is unknown. We grew fibroblast-like cells from 29 TSC skin tumors from 22 TSC subjects and identified germline and second-hit...

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Source

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Identifiers

PMID: 24271014
DOI: 10.1093/hmg/ddt597
PMCID: PMC3959815

Genes

TSC2
TSC1

Provenance

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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