Kuznecova Elza, Nakazawa-Miklasevica Miki, Krike Nora, Satcs Mihails, Sivina Elina, Irmejs Arvids, Loza Peteris, Gardovskis Janis, Miklasevics Edvins, Daneberga Zanda
Institute of Oncology and Molecular Genetics, Riga Stradins University, Pilsonu Street 13, Block 13, LV-1002 Riga, Latvia.
Department of Biology and Microbiology, Riga Stradins University, Dzirciema Street 16, LV-1007 Riga, Latvia.
Diagnostics (Basel). 2025 Aug 14;15(16):2037. doi: 10.3390/diagnostics15162037.
: Most of the research on the role of the gene in breast cancer is focused on monoallelic germline alterations and loss of heterozygosity in tumors. The aim of this study was to identify the characteristic transcriptomic pattern of monoallelic somatic inactivation and estimate its correlation with event-free breast cancer survival. : We conducted global transcriptome sequencing of breast cancer tissue samples to identify differentially expressed genes and signaling pathways associated with monoallelic somatic inactivation. The study group involved 36 patient samples categorized based on inactivation status. Subsequently, the differential gene expression and Kaplan-Meier analyses in the groups with and without monoallelic somatic inactivation were performed. : Kaplan-Meier analysis showed a tendency for longer event-free survival in patients with monoallelic somatic inactivation, suggesting somatic inactivation to be a favorable prognostic. Differential gene expression analysis followed by the STRING tool enrichment analysis showed significant enrichment of proteins in the extracellular region and extracellular space. : In this study, we identified transcriptomic profiles of differentially expressed genes , , , and as indicative of homologous recombination-impaired tumors with a tendency for better therapy results.
大多数关于该基因在乳腺癌中作用的研究都集中在肿瘤中的单等位基因种系改变和杂合性缺失上。本研究的目的是确定单等位基因体细胞失活的特征性转录组模式，并评估其与无事件乳腺癌生存率的相关性。：我们对乳腺癌组织样本进行了全转录组测序，以确定与单等位基因体细胞失活相关的差异表达基因和信号通路。研究组包括36例根据失活状态分类的患者样本。随后，对有和没有单等位基因体细胞失活的组进行了差异基因表达和Kaplan-Meier分析。：Kaplan-Meier分析显示，单等位基因体细胞失活的患者有更长无事件生存期的趋势，表明体细胞失活是一个有利的预后因素。差异基因表达分析随后进行STRING工具富集分析，结果显示细胞外区域和细胞外空间的蛋白质有显著富集。：在本研究中，我们确定了差异表达基因、、、和的转录组谱，这些谱表明同源重组受损的肿瘤有更好治疗结果的趋势。
