Utility of Circulating Cell-Free DNA in Assessing Microsatellite Instability and Loss of Heterozygosity in Breast...

Area of Science:

• Oncology
• Genetics
• Molecular Biology

Background:

• Circulating cell-free DNA (cfDNA) shows diagnostic and prognostic utility in breast cancer (BC).
• Early diagnosis of BC is crucial for effective treatment and improved patient outcomes.
• cfDNA analysis offers a minimally invasive approach for cancer detection.

Purpose of the Study:

• To investigate the utility of cfDNA for detecting microsatellite instability (MSI) and loss of heterozygosity (LOH) in early breast cancer diagnosis.
• To compare cfDNA profiles with genomic DNA in BC patients and healthy controls.
• To assess the potential of cfDNA as a biomarker for early cancer detection and molecular stratification.

Main Methods:

• Quantification of cfDNA and genomic DNA using NanoDrop spectrophotometry and real-time PCR.
• Assessment of DNA stability using the AmpFlSTR MiniFiler human identification kit.
• Analysis of short tandem repeat (STR) loci for genotype and allele frequency distributions, and detection of LOH and MSI.

Main Results:

• BC patients exhibited significantly higher cfDNA plasma concentrations than healthy controls.
• Significant differences in allele frequencies of specific STR loci (D7S820, D21S11, CSF1PO) were observed between BC patients and controls.
• Loss of heterozygosity (LOH) and microsatellite instability (MSI) were detected in 36.6% of cfDNA from BC patients.

Conclusions:

• Plasma-derived cfDNA is a valuable tool for earlier, less invasive, and cost-effective breast cancer diagnosis.
• cfDNA analysis can aid in molecular stratification of BC patients.
• cfDNA holds potential for molecular profiling and biomarker discovery in precision medicine and forensic applications.