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Mismatch Repair System Gene Expression in FFPE Samples from Breast Cancer Patients
Ricardo Quidute1, Patricia Quidute1, Matheus Moreira Perez1
1Laboratório de Análises Clínicas do Centro Universitário FMABC, Santo André 09060-650, SP, Brazil.
Abstract:
Background/Objectives: Cancer characteristics are mainly due to mutations in genes that regulate key pathways. One mechanism for identifying and correcting these mutations is the Mismatch Repair System. Given the lack of data on MMR in breast cancer FFPE samples, this study aims to examine hMSH2 and hMSH6 gene expression in FFPE tumor biopsies. Methods: One hundred patients with breast cancer were included in this study, from which tumor samples were obtained. Expression of the hMSH2 and hMSH6 genes was evaluated by qPCR. Results: Out of 100 tumor samples, 89 were suitable for molecular analysis. Of these, 10 (11.23%) expressed the hMSH2 gene and 4 (4.5%) expressed the hMSH6 gene. No associations were found between hMSH2 and hMSH6 expression and tumor staging, HER2, ER, PR, or Ki-67 expression. Conclusions: Our results suggest that the expression of the proposed markers is decreased in breast tumorigenesis.
Insights
Breast cancer studies reveal decreased expression of mismatch repair genes hMSH2 and hMSH6 in tumor samples. This finding is crucial for understanding DNA repair mechanisms in breast tumorigenesis.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Cancer development is often linked to gene mutations affecting critical cellular pathways.
- The Mismatch Repair System (MMR) plays a role in identifying and correcting DNA mutations.
- Limited data exists on MMR gene expression in formalin-fixed paraffin-embedded (FFPE) breast cancer samples.
Purpose of the Study:
- To investigate the expression levels of the hMSH2 and hMSH6 genes.
- To analyze gene expression in FFPE breast cancer tumor biopsies.
- To contribute data on MMR gene expression in breast cancer.
Main Methods:
- Quantitative Polymerase Chain Reaction (qPCR) was used for gene expression analysis.
- Tumor samples from 100 breast cancer patients were analyzed.
- Molecular analysis was performed on 89 suitable FFPE samples.
Main Results:
- hMSH2 gene expression was observed in 10 samples (11.23%).
- hMSH6 gene expression was detected in 4 samples (4.5%).
- No correlation was found between hMSH2/hMSH6 expression and tumor stage, HER2, ER, PR, or Ki-67 status.
Conclusions:
- The study suggests a downregulation of hMSH2 and hMSH6 gene expression during breast cancer progression.
- Reduced expression of these MMR genes may be implicated in breast tumorigenesis.
- Further research is warranted to explore the functional impact of decreased MMR gene expression in breast cancer.
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