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e16512 Background: Addressing health disparities in renal cell carcinoma (RCC) has been an enduring challenge globally, with notable variations in incidence and outcomes among different racial groups. Genomic ancestry serves as a valuable tool in capturing biological variations among diverse populations and offers insights into clinical, histopathological, and molecular distinctions. We utilized The Cancer Genetic Ancestry Atlas (TCGAA) to investigate tumor mutation profiles of RCC with focus on the influence of genetic ancestry on the intricate genomic landscape of this malignancy. Methods: Genomic and clinical data of TCGA PanCancer Atlas KIRC were downloaded through the GDC Data Portal. We utilized The Cancer Genome Ancestry Atlas (TCGAA) and the STRUCTURE algorithm for estimation of genetic ancestry. Primary ancestry was specified as comprising greater than or equal to 50% of genetic ancestry from a single reference population. Statistical analyses were performed using chi-square, Cox proportional hazards models, and Kaplan-Meier methods. Results: 64.5% were male and 41% were locally advanced or metastatic (stage III-IV). Genomic analysis revealed 438 individuals with European ancestry (mean European ancestry of 95.78%), 50 patients with African ancestry (mean African ancestry of 77.7%), and 8 patients with Asian ancestry (mean Asian ancestry of 92.5%). The mean age of patients was 61.0, 58.5, and 49.5 for the European, African, and Asian ancestry groups, respectively. African ancestry correlated with a trend towards reduced overall survival (OS) compared to European ancestry (median OS 62.89 vs 90.48 months). African ancestry patients harbored lower frequency of VHL and PBRM1 alterations, but with significant enrichment in MTOR, FREM2, UNC80, LRP2 alterations compared with European ancestry group. Conclusions: This study reveals genetic heterogeneity in RCC across diverse ancestry groups, indicating presence of distinct oncogenic genes and pathways in African American populations.These findings suggest potential contributions to racial disparities in clinical presentation, outcomes, and treatment responses. Future research should include exploring the role of genetic ancestry in tumorigenesis and disease progression, alongside developing targeted therapies to mitigate health inequities and enhance outcomes for all populations. Table: see text
Lee et al. (Sat,) studied this question.