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Article

Genotype-Phenotype Characterization of Lynch Syndrome-associated Upper Tract Urothelial Carcinoma.

European urology oncology - 1 Jun 2026

Labbate Craig, Igel Daniel A, Saporito Donika, Adibi Mehrad, Mork Maureen, Ozambela Manuel, Vilar-Sanchez Eduardo, Guo Charles, Czerniak Bogdan, Jonasch Eric, Matin Surena F

Abstract excerpt

BACKGROUND AND OBJECTIVE: Upper tract urothelial carcinoma (UTUC) is the most prevalent urologic malignancy among patients with Lynch syndrome (LS), which is caused by germline mutations in genes MSH2, MSH6, MLH1, and PMS2 involved in DNA mismatch repair (MMR). We describe clinical phenotypes of UTUC by MMR genotype and in comparison to sporadic UTUC. METHODS: Data for patients with confirmed LS and UTUC treated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41176509
DOI: 10.1016/j.euo.2025.10.005

Genes

MSH2
MSH6
MLH1
PMS2

Provenance

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

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