Data from A Genomic Analysis of Esophageal Squamous Cell Carcinoma in Eastern Africa

• DOI: 10.1158/1055-9965.c.6792166.v3
• Publication Date: 2024-09-16T11:37:58Z
• Authors: Katherine Van Loon; Elia J. Mmbaga; Beatrice P. Mushi; Msiba Selekwa; Ally Mwanga; Larry Onyango. Akoko; Julius Mwaiselage; Innocent Mosha; Dianna L. Ng; Wei Wu; Jordyn Silverstein; Gift Mulima; Bongani Kaimila; Satish Gopal; Jeff M. Snell; Stephen C. Benz; Charles Vaske; Zack Sanborn; Andrew J. Sedgewick; Amie Radenbaugh; Yulia Newton; Eric A. Collisson

<div>Abstract<p>Background: Esophageal squamous cell carcinoma (ESCC) comprises 90% of all esophageal cancer cases globally and is the most common histology in low-resource settings. Eastern Africa has a disproportionately high incidence ESCC. Methods: We describe genomic profiles 61 ESCC from Tanzania compare them to an existing cohort Malawi. also provide comparison tumors The Cancer Genome Atlas. Results: observed substantial transcriptional overlap with other histologies via Atlas (TCGA) PanCan dataset. DNA analysis revealed known mutational patterns, both genome-wide as well genes be commonly mutated TP53 mutations were somatic mutation Malawi but detected at lower frequencies than previously reported In combined analysis, two unique clusters identified: proliferative/epithelial cluster invasive/migrative/mesenchymal cluster. Mutational signature Tanzanian signatures associated aging cytidine deaminase activity (APOBEC) absence 29, which was cohort. Conclusion: This study defines molecular characteristics Tanzania, enriches African dataset, findings overall similarities some heterogeneity across sites. Impact: Despite burden Africa, investigations this region are nascent. represents largest comprehensive sub-Saharan date.</p></div>