Population-specific Mutation Patterns in Breast Tumors from African American, European American, and Kenyan Patients

• DOI: 10.1158/2767-9764.crc-23-0165
• Publication Date: 2023-10-30T13:19:32Z
• Authors: Wei Tang; Flora Zhang; Jung S. Byun; Tiffany H. Dorsey; Harris G. Yfantis; Anuoluwapo Ajao; Huaitian Liu; Margaret S. Pichardo; Catherine M. Pich...; Alexandra R. Harris; Xiaohong R. Yang; Jonine D. Figueroa; Shahin Sayed; Francis W. Makokha; Stefan Ambs
• Keywords: Kenya

Abstract Women of African descent have the highest breast cancer mortality in United States and are more likely than women from other population groups to develop an aggressive disease. It remains uncertain what extent Africa is reminiscent American or European patients. Here, we performed whole-exome sequencing genomic DNA 191 tumor non-cancerous adjacent tissue pairs obtained 97 American, 69 2 Asian 23 Kenyan Our analysis data revealed elevated mutational burden both patients, when compared with TP53 mutations were most prevalent, particularly followed by PIK3CA mutations, which showed similar frequencies Mutations targeting TBX3 confined Americans those FBXW7 suppressor patients whereas ARID1A gene that known confer resistance endocrine therapy distinctively enriched among A Kyoto Encyclopedia Genes Genomes pathway could link increased mitochondrial oxidative phosphorylation capacity tumors carrying these mutations. Finally, Catalogue Somatic Cancer (COSMIC) signatures correlated occurrence driver immune cell profiles, neighborhood deprivation associations ranging being mostly modest occasionally robust. To conclude, found profiles different between patient groups. The differences concentrated genes low mutation cancer. Significance: study describes also investigates how may relate environment had residence. it overrepresentation