Novel SYK gene variations and changes in binding sites of miRs in breast cancer patients

R Faryal1,2, M Ishfaq2, T Hayat2

  • 1Department of Microbiology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Abstract

Insights

Novel mutations in the Spleen Tyrosine Kinase (SYK) gene significantly increase breast cancer risk. These SYK gene mutations may alter gene expression, impacting breast cancer development.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Spleen Tyrosine Kinase (SYK) is a non-receptor tyrosine kinase.
  • SYK normally expresses in epithelial breast tissues.
  • SYK functions as a tumor suppressor gene.

Purpose of the Study:

  • To analyze mutations in the SYK gene in breast cancer.
  • To investigate SYK transcript deregulation by miRNA in breast cancer.

Main Methods:

  • PCR-single-strand conformational polymorphism used for SYK gene sequencing.
  • 207 breast cancer cases and 200 controls analyzed.
  • In silico bioinformatics tools used for miRNA interaction analysis.

Main Results:

  • Ten novel mutations (6 exonic, 4 intronic) identified in the SYK gene.
  • Mutations associated with a five-fold increase in breast cancer risk (p<0.0001).
  • Exon 6 mutation (Phe191Tyr) showed altered interaction with miR-873.

Conclusions:

  • Novel SYK gene mutations identified in breast cancer patients.
  • These mutations are crucial and may alter SYK gene expression.
  • Findings suggest SYK mutations contribute to breast cancer development.

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