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

David M Hein1, Weiye Deng1,2, MaryLena Bleile3

  • 1Department of Radiation Oncology, University of Texas Southwestern, Dallas, TX, USA.

Journal of the National Cancer Institute
|February 8, 2022
PubMed
Summary

Early onset colorectal cancer (EOCRC) shows racial and ethnic differences in gene mutations and expression. Genomic profiling may improve EOCRC diagnostics and treatments for better patient outcomes.

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Area of Science:

  • Oncology
  • Genomics
  • Molecular Biology

Background:

  • Early onset colorectal cancer (EOCRC) incidence and mortality are increasing.
  • Outcomes for EOCRC appear to vary significantly across racial and ethnic groups.

Purpose of the Study:

  • To investigate differences in the mutational landscape and gene expression of EOCRC among diverse racial and ethnic populations.
  • To identify potential genomic markers that could inform diagnostics and personalized treatments for EOCRC.

Main Methods:

  • Utilized data from the American Association for Cancer Research Project GENIE and University of Texas Southwestern.
  • Analyzed mutational profiles (KRAS, APC) and gene expression patterns (oxidative phosphorylation) using statistical tests and R packages (DESeq2, clusterProfiler).

Main Results:

  • Non-Hispanic Black patients exhibited higher rates of KRAS mutations.
  • Non-Hispanic White and non-Hispanic Black patients showed increased rates of APC mutations.
  • White Hispanic patients displayed elevated expression of genes associated with oxidative phosphorylation.

Conclusions:

  • Significant racial and ethnic disparities exist in the genomic profiles of EOCRC.
  • Genomic profiling offers potential for novel diagnostics and tailored therapeutic strategies for EOCRC.
  • Addressing these disparities is crucial for improving the prognosis of EOCRC.