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Updated: Jan 8, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Tumor Mutations in Minority Populations Versus Non-Hispanic Whites Across Tumor Types
Jonathan Coy1, Isabella Doan2, Devon Chabot-Richards3
1Huntsman Cancer Center, University of Utah, Salt Lake City, UT.
Purpose:
To investigate tumor mutation variations across different racial/ethnic groups to better understand implications for targeted cancer therapies.
Methods:
A retrospective analysis of 5,045 patients at University of New Mexico Comprehensive Cancer Center who underwent tumor genetic testing between January 2015 and April 2022 was conducted. Data were standardized from internal genetic tests, FoundationOne, and Guardant next-generation sequencing panels. Chi-square tests, one-way analysis of variance, and negative binomial regression estimated differences in mutation rates across race/ethnicity, adjusting for cancer type, age, testing year, and number of genes screened. Primary outcomes included tumor mutation rates and their variation across racial/ethnic groups. Specific focus was placed on mutation frequencies in common genes, and association between race/ethnicity and mutations detected, adjusted for covariates.
Results:
Among 5,045 patients-Hispanic/Latino (30%), American Indian (5.7%), Asian/Hawaiian Native (1.9%), Black (1.5%), non-Hispanic White (41%), and other/unknown (19.7%)-mutations were identified most commonly for Asian/Hawaiian Native individuals, with a rate of 0.068 mutations per gene screened (95% CI, 0.051 to 0.090), followed by White individuals (rate = 0.061, 95% CI, 0.051 to 0.072). Fewest mutations were identified for Black individuals, with a rate of 0.045 mutations per gene screened (95% CI, 0.033 to 0.061). Single-gene comparisons suggested BRAF mutations to be most prevalent in non-Hispanic Whites (5.8%, P = .015) while EGFR mutations were most common in Asian/Hawaiian Native patients (10.53%, P = .005).
Conclusion:
This study highlights substantial heterogeneity in tumor mutations across racial/ethnic groups while emphasizing the need for wider understanding of genomics and tailored approaches in cancer treatment. Findings underscore the need for equitable genomic testing, tailored therapies, and inclusive cancer care. Further research is necessary to bridge existing disparities, ensuring comprehensive, personalized cancer treatment for all patients.
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