Data from Colorectal Tumors in Diverse Patient Populations Feature a Spectrum of Somatic Mutational Profiles

• DOI: 10.1158/0008-5472.c.7819755
• Publication Date: 2025-05-15T12:46:11Z
• Authors: Marco Matejcic; Jamie K. Teer; Hannah J. Hoehn; Diana B. Diaz; Kritika Shankar; Jun Gong; Nathalie T. Nguyen; Nicole C. Loroña; Domenico Coppola; Clifton G. Fulmer; Ozlen Saglam; Kun Jiang; W. Douglas Cress; Teresita Muñoz-An...; Idhaliz Flores; Edna R. Gordián; José A. Oliveras ...; Seth I. Felder; Julian Sanchez; Jason B. Fleming; Erin M. Siegel; Jennifer A. Freedman; Julie Dutil; Mariana C. Stern; Brooke L. Fridley; Jane C. Figueiredo; Stephanie L. Schmit
• Keywords: Feature (linguistics)

<div>Abstract<p>Admixed populations, including the Hispanic/Latino/a community, are underrepresented in cancer genetic/genomic studies. Leveraging Latino Colorectal Cancer Consortium (LC3) and other existing datasets, we analyzed whole-exome sequencing data on tumor/normal pairs from 718 individuals with colorectal to map somatic mutational features by ethnicity genetic similarity. Global proportions of African, Asian, European, Native American ancestries were estimated using ADMIXTURE. Associations between these examined logistic regression. <i>APC</i>, <i>TP53</i>, <i>KRAS</i> top three mutated genes across all participants subset LC3. In analyses examining recurrently genes, tumors patients had fewer <i>PIK3CA</i> mutations compared non-Latino patients. Genetic ancestry overall was associated <i>CDC27</i> mutation status, African <i>SMAD2</i> status. exome-wide analyses, significantly higher odds <i>KNCN</i> <i>TMEM184B</i>. a lower frequency microsatellite instability–high tumors. The SBS11 signature as well ethnicity. an independent replication dataset, MSK-IMPACT, estimates association largely consistent direction but nonsignificant. A meta-analysis LC3 MSK-IMPACT showed that status MSI This work facilitates precision medicine initiatives providing insights into contribution molecular tumors.</p><p><b>Significance:</b> Analysis various populations can broadly characterize genomic landscapes enhance strategies.</p></div>