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Identification of Breast Cancer Subtype-Specific Biomarkers by Integrating Copy Number Alterations and Gene Expression Profiles

机译:通过整合拷贝数改变和基因表达谱来鉴定乳腺癌亚型特异性生物标志物

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摘要

Background and Objectives: Breast cancer is a heterogeneous disease categorized into four subtypes. Previous studies have shown that copy number alterations of several genes are implicated with the development and progression of many cancers. This study evaluates the effects of DNA copy number alterations on gene expression levels in different breast cancer subtypes. Materials and Methods: We performed a computational analysis integrating copy number alterations and gene expression profiles in 1024 breast cancer samples grouped into four molecular subtypes: luminal A, luminal B, HER2, and basal. Results: Our analyses identified several genes correlated in all subtypes such as KIAA1967 and MCPH1. In addition, several subtype-specific genes that showed a significant correlation between copy number and gene expression profiles were detected: SMARCB1, AZIN1, MTDH in luminal A, PPP2R5E, APEX1, GCN5 in luminal B, TNFAIP1, PCYT2, DIABLO in HER2, and FAM175B, SENP5, SCAF1 in basal subtype. Conclusions: This study showed that computational analyses integrating copy number and gene expression can contribute to unveil the molecular mechanisms of cancer and identify new subtype-specific biomarkers.
机译:背景和目标:乳腺癌是一种异质疾病,分为四个亚型。以前的研究表明,几种基因的拷贝数改变与许多癌症的开发和进展有关。本研究评估DNA拷贝数改变对不同乳腺癌亚型基因表达水平的影响。材料和方法:我们进行了将拷贝数改变和基因表达谱中分为四个分子亚型的1024乳腺癌样品中的计算分析和基因表达谱进行:腔A,腔B,HER2和基础。结果:我们的分析确定了在KIAA1967和MCPH1等所有亚型中相关的几个基因。此外,检测到拷贝数和基因表达谱之间的几种亚型特异性基因:SMARCB1,Azin1,MTDH在腔A,PPP2R5E,APEX1,Luminal B中的GCN5,TNFAIP1,PCYT2,HER2中的暗黑破坏神, FAM175B,SENP5,SCAF1在基底亚型中。结论:本研究表明,整合拷贝数和基因表达的计算分析可以有助于推出癌症的分子机制并鉴定新的亚型特异性生物标志物。

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