SNP mutation-related genes in breast cancer for monitoring and prognosis of patients: A study based on the TCGA database

Cancer Med. 2019 May;8(5):2303-2312. doi: 10.1002/cam4.2065. Epub 2019 Mar 18.

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.

Keywords: bioinformatics analysis; biomarkers; breast cancer; prognosis; single nucleotide polymorphisms.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers, Tumor / genetics
  • Biomarkers, Tumor / metabolism
  • Breast Neoplasms / diagnosis*
  • Breast Neoplasms / genetics
  • Breast Neoplasms / metabolism
  • Databases, Genetic
  • Early Detection of Cancer
  • Female
  • Gene Expression Profiling / methods*
  • Gene Expression Regulation, Neoplastic
  • Gene Regulatory Networks*
  • Humans
  • MicroRNAs / genetics
  • Polymorphism, Single Nucleotide*
  • Prognosis
  • Protein Interaction Maps
  • Sequence Analysis, DNA / methods*
  • Signal Transduction
  • Survival Analysis

Substances

  • Biomarkers, Tumor
  • MicroRNAs