Decreased copy-neutral loss of heterozygosity in African American colorectal cancers

Gaius J. Augustus, Rosa M. Xicola, Xavier Llor, Nathan A. Ellis

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Despite improvements over the past 20 years, African Americans continue to have the highest incidence and mortality rates of colorectal cancer (CRC) in the United States. While previous studies have found that copy number variations (CNVs) occur at similar frequency in African American and White CRCs, copy-neutral loss of heterozygosity (cnLOH) has not been investigated. In the present study, we used publicly available data from The Cancer Genome Atlas (TCGA) as well as data from an African American CRC cohort, the Chicago Colorectal Cancer Consortium (CCCC), to compare frequencies of CNVs and cnLOH events in CRCs in the two racial groups. Using genotype microarray data, we analyzed large-scale CNV and cnLOH events from 166 microsatellite stable CRCs—31 and 39 African American CRCs from TCGA and the CCCC, respectively, and 96 White CRCs from TCGA. As reported previously, the frequencies of CNVs were similar between African American and White CRCs; however, there was a significantly lower frequency of cnLOH events in African American CRCs compared to White CRCs, even after adjusting for demographic and clinical covariates. Although larger differences for chromosome 18 were observed, a lower frequency of cnLOH events in African American CRCs was observed for nearly all chromosomes. These results suggest that mechanistic differences, including differences in the frequency of cnLOH, could contribute to clinicopathological disparities between African Americans and Whites. Additionally, we observed a previously uncharacterized phenomenon we refer to as small interstitial cnLOH, in which segments of chromosomes from 1 to 5 Mb long were affected by cnLOH.

Original languageEnglish (US)
Pages (from-to)454-464
Number of pages11
JournalGenes Chromosomes and Cancer
Issue number8
StatePublished - Aug 1 2020


  • African American colorectal cancer
  • The Cancer Genome Atlas
  • copy number variation
  • copy-neutral loss of heterozygosity
  • genotype and microarray data

ASJC Scopus subject areas

  • Genetics
  • Cancer Research


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