Racial and Ethnic Differences in Genomic Profiling of Early-Onset Colorectal Cancer
Menée à partir de données génétiques portant sur 1 752 patients atteints précocement d'un cancer colorectal, cette étude analyse les profils génomiques en fonction de l'origine ethnique
The incidence and mortality of early-onset colorectal cancer (EOCRC) are rising; outcomes appear to differ by race and ethnicity. We aimed to assess differences in mutational landscape and gene expression of EOCRC by racial and ethnic groups (Non-Hispanic Asian, Non-Hispanic Black, Non-Hispanic White, White Hispanic) using data from AACR Project GENIE (10.2) and University of Texas Southwestern, the latter enriched in Hispanic patients. All statistical tests were 2-sided. Of 1,752 EOCRC patients, Non-Hispanic Black patients had higher rates of KRAS mutations (60.9%, p = .001, q = 0.015) and Non-Hispanic White and Non-Hispanic Black patients had higher rates of APC mutations (77.1% and 76.6% among Non-Hispanic White and Non-Hispanic Black patients, respectively; p = .001, q = 0.015) via the Fisher exact test with Benjamini-Hochberg correction. Using R packages DESeq2 and clusterProfiler, we found that White Hispanic patients had increased expression of genes involved in oxidative phosphorylation (p < .001, q = 0.025). Genomic profiling has the potential to identify novel diagnostics and influence individualized treatment options to address the currently limited prognosis of EOCRC.
Journal of the National Cancer Institute , résumé, 2021