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Article

A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.

Human molecular genetics - 1 Apr 2015

Tyburczy Magdalena E, Jozwiak Sergiusz, Malinowska Izabela A, Chekaluk Yvonne, Pugh Trevor J, Wu Chin-Lee, Nussbaum Robert L, Seepo Sara, Dzik Tomasz, Kotulska Katarzyna, Kwiatkowski David J

Abstract excerpt

Tuberous sclerosis complex (TSC) is a genetic disorder characterized by seizures and tumor formation in multiple organs, mainly in the brain, skin, kidney, lung and heart. Renal cell carcinoma (RCC) occurs in ∼3% of TSC patients, and typically develops at age <50. Here we describe genetic findings in two TSC patients with multiple renal tumors, each of whom had the germline mutation TSC2 p.R905Q. The first...

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Source

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Identifiers

PMID: 25432535
DOI: 10.1093/hmg/ddu597
PMCID: PMC4355019

Genes

TSC2
PRCC

Variants

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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