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Updated: Mar 25, 2026

Clinicopathological Analysis of miRNA Expression in Breast Cancer Tissues by Using miRNA In Situ Hybridization
Published on: June 7, 2016
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.
Background:
Spleen Tyrosine Kinase (SYK) belongs to non-receptor tyrosine Kinase family, which normally expresses in epithelial breast tissues and acts as a tumor suppressor gene.
Objective:
Analysis of mutations in the SYK gene and deregulation of SYK transcripts by miRNA in breast cancer was studied.
Methods:
All exons and exon/intron boundaries of SYK gene were amplified and sequenced in blood samples of 207 breast cancer cases and 200 matched controls using PCR-single stranded conformational polymorphism method.
Results:
Sequence analysis revealed 10 novel mutations in breast cancer patients. Among these 6 mutations (Ala 161Pro, His162Tyr, Phe191Tyr, Val 535Gly, Ser 556lIe and Lys536Gln) were found in exonic region and 4 (26249 T>A, 63941 G>A, 63981G>C and 86548T>A) were found in intronic region. All of these mutations are associated with ∼ 5 folds (p< 0.0001) increase in breast cancer risk in present study cohort. Regulation of SYK transcripts by miRNA was also analyzed using in silico bioinformatics tools, exon 6's mutation (Phe191Tyr) was found to have altered interaction with miR-873.
Conclusion:
Overall novel mutations in SYK gene and in silico analysis revealed that these mutations are crucial and might be responsible for altered expression of SYK.
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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