Abstract
Advances in cancer biology have allowed early diagnosis and more comprehensive treatment of breast cancer (BC). However, it remains the most common cause of cancer death in women worldwide because of its strong invasiveness and metastasis. In‐depth study of the molecular pathogenesis of BC and of relevant prognostic markers would improve the quality of life and prognosis of patients. In this study, bioinformatics analysis of SNP‐related data from BC patients provided in the TCGA database revealed that six mutant genes (NCOR1, GATA3, CDH1, ATM, AKT1, and PTEN) were significantly associated with the corresponding expression levels of the proteins. The proteins were involved in multiple pathways related to the development of cancer, including the PI3K‐Akt signaling pathway, pertinent microRNAs, and the MAPK signaling pathway. In addition, overall survival and recurrence‐free survival analysis revealed the close associations of the expression of GATA3, NCOR1, CDH1, and ATM with survival of BC patients. Therefore, detecting these gene mutations and exploring their corresponding expression could be valuable in predicting the prognosis of patients. The results of the high‐throughput data mining provide important fundamental bioinformatics information and a relevant theoretical basis for further exploring the molecular pathogenesis of BC and assessing the prognosis of patients.
Highlights
Breast cancer (BC) is one of the most common cancers among women, and its morbidity and mortality have continued to increase worldwide in recent years, reflecting the strong invasiveness and metastasis characteristics of this cancer.[1]
Bioinformatics analysis revealed that Single nucleotide polymorphisms (SNPs) in six genes (NCOR1, GATA binding protein 3 (GATA3), CDH1, Ataxia telangiectasia mutated (ATM), AKT1, and PTEN) were significantly associated with the corresponding expression levels and were involved in multiple pathways involved in cancer development
Further analysis indicated that the SNP mutation at the AKT1 rs121434592, CDH1 rs587783047, and GATA3 rs763236375 sites were the important reasons for affecting gene expression
Summary
Breast cancer (BC) is one of the most common cancers among women, and its morbidity and mortality have continued to increase worldwide in recent years, reflecting the strong invasiveness and metastasis characteristics of this cancer.[1]. BC is a complex disease that involves a sequence of genetic, epigenetic, and phenotypic changes. Polymorphisms of genes involved in multiple biological pathways have been identified as potential risks of BC.[2]. These genetic polymorphisms further lead to differences in disease susceptibility and severity among individuals.[3]. The development of accurate molecular diagnoses and biological indicators of prognosis are crucial for individualized and precise treatment of BC patients. Chundi Gao made a significant contribution to this work and should be considered as the first author
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