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Isolation and Functional Assessment of Human Breast Cancer Stem Cells from Cell and Tissue Samples
07:03

Isolation and Functional Assessment of Human Breast Cancer Stem Cells from Cell and Tissue Samples

Published on: October 2, 2020

Mutational spectrum of Gelsolin and its down regulation is associated with breast cancer

Ruqia Mehmood Baig1, Ishrat Mahjabeen, Maimoona Sabir

  • 1Cancer Genetics Lab, Department of Biosciences, COMSATS Institute of Information Technology, Chak shazad, Islamabad, Pakistan. ruqiamehmood@gmail.com

Disease Markers
|January 18, 2013
PubMed

Insights

Gelsolin protein levels are significantly lower in breast tumors, correlating with increased metastasis and mortality. Genetic variations in Gelsolin may contribute to cancer development and progression.

Area of Science:

  • Cell Biology
  • Molecular Biology
  • Oncology

Background:

  • Gelsolin superfamily proteins regulate actin dynamics, crucial for cellular processes.
  • Gelsolin plays a role in human neoplasia pathogenesis.
  • Understanding Gelsolin's role in breast cancer is vital.

Purpose of the Study:

  • Investigate germline mutations in Gelsolin.
  • Analyze the expressional profile of Gelsolin in human breast cancer tissues.

Main Methods:

  • Germline mutation screening using PCR-SSCP.
  • Gene expression analysis via quantitative real-time PCR.

Main Results:

  • Identified various mutations in Gelsolin coding regions (exons 4, 10, 11, 14, 15), including missense, deletions, insertion, and synonymous substitutions.
  • Gelsolin transcript levels were significantly lower in breast tumor tissues compared to controls (p=0.03).
  • Lower Gelsolin levels correlated with metastasis (p=0.002) and patient mortality (P=0.03).

Conclusions:

  • Gelsolin is downregulated in breast cancer, linked to metastasis and patient survival.
  • Genetic variations in Gelsolin's coding regions may contribute to genetic instability.
  • Gelsolin's expression and genetic variations hold potential significance for breast cancer prognosis.

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