ArticleCancer control : journal of the Moffitt Cancer Center
Tumor Profiling Using an NGS Cancer Hotspot Panel in Ukrainian Breast Cancer Patients: Initial Findings of Mutation Frequencies and Clinicopathologic Characteristics.
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Abstract
BackgroundMolecular profiling with next-generation sequencing (NGS) can improve breast-cancer (BC) diagnostics, prognostication, and treatment selection. Despite this potential, tumor genomic testing has been insufficiently studied and implemented in Ukraine. This exploratory study aimed to identify and clinically analyze variants in tumor suppressor genes, oncogenes, as well as genes involved in epigenetic regulation and cellular signaling pathways, in tumor tissue samples from Ukrainian BC patients using NGS assessing a 50-gene targeted panel.MethodsThis was a retrospective cross-sectional study. Tumor tissue from 57 consecutively enrolled women with newly diagnosed, histologically confirmed BC was analyzed using the Ion AmpliSeq™ Cancer Hotspot Panel v2 (50 genes). Variants were filtered by stringent quality criteria and classified according to ACMG and AMP/ASCO/CAP. Group comparisons were evaluated using Fisher's exact and nonparametric tests; correlations were evaluated using Spearman's test.ResultsVariants were detected in 32 of 57 (56.1%) tumors across eight genes. The highest number of variants were detected in
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