ArticlemedRxiv : the preprint server for health sciences2026
SOMATIC MUTATION PROFILES IN COLORECTAL CANCERS DIFFER BY POPULATION.
Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
purposeColorectal cancer (CRC) incidence and mortality rates differ by population, and evidence suggests that genetic differences may affect cancer biology. However, studies investigating CRC variants in genetically heterogeneous populations are limited. Using somatic tumor mutation profiling of CRCs diagnosed in African Americans (AAs), Ghanaians, Ethiopians, and NHWs, we explore correlations between population group and population-specific tumor variants. PATIENTS AND
methodsSomatic DNA from CRC tumors resected from 150 individuals, including 43 AAs (27%), 53 NHWs (35%), 21 Ghanaians (14.2%), and 33 Ethiopians (22.3%), was sequenced on the Illumina NovaSeq platform, targeting 290 genes. We compared mutations in AAs, Ghanaians, and Ethiopians to those in NHWs to identify variants enriched in historically underrepresented groups.
resultsUS cohort tumors were diagnosed at significantly younger ages with more early-onset cases (<50 years old) than African cohorts (
conclusionGeographic origin and age of onset appear to shape the CRC mutational landscape. The similarity between AA and NHW tumor profiles likely reflects their shared predominance of early-onset cases, suggesting that age- and geography-associated factors, including environmental exposures, may influence tumor phenotypes.
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