Cava Claudia, Pisati Mirko, Frasca Marco, Castiglioni Isabella
Institute of Molecular Bioimaging and Physiology, National Research Council (IBFM-CNR), Via F. Cervi 93, Segrate-Milan, 20090 Milan, Italy.
Department of Computer Science, Università degli Studi di Milano, Via Celoria 18, 20133 Milano, Italy.
Medicina (Kaunas). 2021 Mar 12;57(3):261. doi: 10.3390/medicina57030261.
: 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. : 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. : Our analyses identified several genes correlated in all subtypes such as and . In addition, several subtype-specific genes that showed a significant correlation between copy number and gene expression profiles were detected: , , in luminal A, , , in luminal B, , , in HER2, and , , in basal subtype. : 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.
乳腺癌是一种异质性疾病,分为四种亚型。先前的研究表明,多个基因的拷贝数改变与许多癌症的发生和发展有关。本研究评估了DNA拷贝数改变对不同乳腺癌亚型基因表达水平的影响。:我们进行了一项计算分析,整合了1024个乳腺癌样本的拷贝数改变和基因表达谱,这些样本分为四种分子亚型:腔面A型、腔面B型、HER2型和基底型。:我们的分析确定了在所有亚型中都相关的几个基因,如 和 。此外,还检测到几个在拷贝数和基因表达谱之间显示出显著相关性的亚型特异性基因:腔面A型中的 、 、 ,腔面B型中的 、 、 ,HER2型中的 、 、 ,以及基底型中的 、 、 。:本研究表明,整合拷贝数和基因表达的计算分析有助于揭示癌症的分子机制并识别新的亚型特异性生物标志物。