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Article

Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2021

Santos María, Lanillos Javier, Roldan-Romero Juan María, Caleiras Eduardo, Montero-Conde Cristina, Cascón Alberto, Climent Miguel Angel, Anguera Georgia, Hernando Susana, Laínez Nuria, Robledo Mercedes, Robles Luis, de Velasco Guillermo, García-Donas Jesús, Rodriguez-Antona Cristina

Abstract excerpt

PURPOSE: Germline pathogenic variants are estimated to affect 3-5% of renal cell carcinoma (RCC) patients. However, higher mutational prevalence in non-clear cell RCC (non-ccRCC) and advanced disease has been suggested. METHODS: To clarify the prevalence of pathogenic germline variants in metastatic RCC, we sequenced 29 cancer susceptibility genes in 294 unselected metastatic RCC cases plus 21 patients with...

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Identifiers

PMID: 33442023
DOI: 10.1038/s41436-020-01062-0

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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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