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Molecular characterization of NOS3 and SOD1 genes as markers for detecting patients with breast cancer

  • 0Department of Biology, College of Science, Salahaddin University-Erbil, Erbil, Kurdistan Region, 44001, Iraq.
Molecular Biology Reports +

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May 19, 2025

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May 19, 2025

View abstract on PubMed

Summary

This summary is machine-generated.

Genetic variations in NOS3 and SOD1 genes are linked to breast cancer (BC) development. These polymorphisms correlate with increased oxidative stress markers, suggesting a role in BC pathogenesis and potential for biomarker discovery.

Area Of Science

  • Genetics and Molecular Biology
  • Cancer Research
  • Biochemistry

Background

  • Breast cancer (BC) remains a leading cause of cancer-related mortality in women worldwide.
  • Identifying novel biomarkers for early detection and prognosis is crucial for improving patient outcomes.
  • This study focuses on the genetic polymorphisms of NOS3 (endothelial nitric oxide synthase) and SOD1 (superoxide dismutase 1) in relation to BC development.

Purpose Of The Study

  • To investigate the association between NOS3 and SOD1 gene polymorphisms and breast cancer development.
  • To explore the relationship between these genetic variations, oxidative stress markers, and tumor progression.
  • To examine the functional interactions of NOS3 and SOD1 with other genes involved in redox balance.

Main Methods

  • A case-control study design was employed with 30 breast cancer patients and 30 healthy controls.
  • Sanger sequencing was utilized to identify mutations in NOS3 and SOD1 genes.
  • Enzyme-linked immunosorbent assay (ELISA) measured oxidative stress markers (peroxynitrite and superoxide dismutase), and GENEMANIA analyzed protein-protein interactions.

Main Results

  • Thirty-two polymorphisms in NOS3 and sixteen in SOD1 were identified, along with nine predicted amino acid alterations in SOD1.
  • Breast cancer patients exhibited significantly higher levels of peroxynitrite (ONOO-) and superoxide dismutase (SOD) compared to controls (p < 0.0001 and p < 0.001, respectively).
  • Network analysis revealed interactions among NOS3, SOD1, and oxidative stress-related genes, emphasizing their role in cellular redox homeostasis.

Conclusions

  • Polymorphisms in NOS3 and SOD1 genes may contribute to breast cancer pathogenesis, evidenced by altered oxidative stress markers.
  • Further validation in larger cohorts is necessary to establish NOS3 and SOD1 polymorphisms as reliable biomarkers for BC risk assessment.
  • This research deepens the understanding of genetic and oxidative stress mechanisms in cancer biology, identifying potential therapeutic targets.

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