Racial and Ethnic Differences in Genomic Profiling of Early Onset Colorectal Cancer

Authors

David M Hein
Weiye Deng
MaryLena Bleile
Syed Ali Kazmi
Brooke Rhead
Francisco M De La Vega
Amy L Jones
Radhika Kainthla
Wen Jiang
Brandi Cantarel
Nina N Sanford

Publication Date

5-9-2022

Journal

Journal of the National Cancer Institute

Abstract

The incidence and mortality of early onset colorectal cancer (EOCRC) is 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 the American Association for Cancer Research Project GENIE (10.2) and University of Texas Southwestern, the latter enriched in Hispanic patients. All statistical tests were 2-sided. Of 1752 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.

Keywords

Black People, Colorectal Neoplasms, Ethnicity, Genomics, Hispanic or Latino, Humans, United States, Black or African American

DOI

10.1093/jnci/djac014

PMID

35134211

PMCID

PMC9086761

PubMedCentral® Posted Date

2-2-2022

PubMedCentral® Full Text Version

Post-print

Published Open-Access

yes