Clear-Cell Renal Cell Carcinoma Molecular Subtypes Differ by African and European Genetic Similarity.

ABSTRACT:

Abstract

Self-reported Black (B) individuals remain underrepresented in molecular studies of clear-cell renal cell carcinoma (ccRCC) relative to White (W) individuals. We performed whole-exome and transcriptome sequencing on paired tumor and normal samples from 59 matched B and W patients undergoing nephrectomy for localized ccRCC, comparing molecular differences by estimated genetic similarity to African (AFR) and European (EUR) 1000 Genomes groups. We validated our findings with a propensity-matched subset of The Cancer Genome Atlas, yielding a final cohort of 254 patients (79 AFR and 175 EUR) with similar baseline clinical variables. Significant differences emerged in VHL mutation frequency (AFR: 23.4%, EUR: 57.5%; FDR = 0.0029) and chromosome 3p deletions (AFR: 59.2%, EUR: 82.6

SUBMITTER: Elias R 

PROVIDER: S-EPMC12044083 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature