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Background <p>DNA damage repair pathway genes are key components for maintaining genomic stability and are mainly associated with hereditary breast and ovarian cancer.</p> Methods <p>The present study aimed to investigate the gene expression profile of DNA damage repair pathway genes, including <i>BRCA1</i>, <i>BRCA2</i>, <i>ATM</i>, <i>TP53</i>, <i>CHEK2</i>, <i>MRE11</i>, <i>RAD50</i>, <i>BARD1</i>, <i>PALB2</i>, and <i>NBN,</i> in hereditary breast and ovarian cancer patients using quantitative real-time PCR.</p> Results <p>The study showed significant upregulation of most DNA damage repair genes in HBOC patients compared to controls, except <i>MRE11</i>, which was downregulated. Receiver operating characteristic (ROC) curve analysis revealed that <i>MRE11</i> (<i>p</i> &lt; 0.001), <i>BRCA1</i> (<i>p</i> &lt; 0.001), <i>BRCA2</i> (<i>p</i> &lt; 0.001), and <i>PALB2</i> (<i>p</i> &lt; 0.001) can be used as potential diagnostic biomarkers for hereditary breast and ovarian cancer. Spearman correlation analysis showed that <i>RAD50</i> was significantly associated with the <i>BRCA1/2</i> mutation status (<i>p</i> = 0.05). Furthermore, bivariate analysis revealed a strong positive correlation between <i>BARD1</i> gene expression and the expression of <i>BRCA1</i>, <i>PALB2,</i> and <i>NBN</i> genes. Kaplan–Meier survival analysis showed that reduces expression of the <i>MRE11</i> gene was associated with better overall survival.</p> Conclusions <p>The study findings may lead to a better understanding of the molecular mechanisms underlying hereditary breast and ovarian cancer, suggesting its role as a potential diagnostic and prognostic marker.</p>

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Role of MRE11 in DNA damage repair pathway dynamics and its diagnostic and prognostic significance in hereditary breast and ovarian cancer

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年4月9日

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  • Bhoomi Tarapara,
  • Franky Shah

摘要

Background

DNA damage repair pathway genes are key components for maintaining genomic stability and are mainly associated with hereditary breast and ovarian cancer.

Methods

The present study aimed to investigate the gene expression profile of DNA damage repair pathway genes, including BRCA1, BRCA2, ATM, TP53, CHEK2, MRE11, RAD50, BARD1, PALB2, and NBN, in hereditary breast and ovarian cancer patients using quantitative real-time PCR.

Results

The study showed significant upregulation of most DNA damage repair genes in HBOC patients compared to controls, except MRE11, which was downregulated. Receiver operating characteristic (ROC) curve analysis revealed that MRE11 (p < 0.001), BRCA1 (p < 0.001), BRCA2 (p < 0.001), and PALB2 (p < 0.001) can be used as potential diagnostic biomarkers for hereditary breast and ovarian cancer. Spearman correlation analysis showed that RAD50 was significantly associated with the BRCA1/2 mutation status (p = 0.05). Furthermore, bivariate analysis revealed a strong positive correlation between BARD1 gene expression and the expression of BRCA1, PALB2, and NBN genes. Kaplan–Meier survival analysis showed that reduces expression of the MRE11 gene was associated with better overall survival.

Conclusions

The study findings may lead to a better understanding of the molecular mechanisms underlying hereditary breast and ovarian cancer, suggesting its role as a potential diagnostic and prognostic marker.