Role of MRE11 in DNA damage repair pathway dynamics and its diagnostic and prognostic significance in hereditary breast and ovarian cancer
Abstract 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...
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2025-04-01
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| Online Access: | https://doi.org/10.1186/s12885-025-14082-3 |
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| author | Bhoomi Tarapara Franky Shah |
| author_facet | Bhoomi Tarapara Franky Shah |
| author_sort | Bhoomi Tarapara |
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| description | Abstract 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. |
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| language | English |
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| spelling | doaj-art-0c58748db1ce4868b4307a1e6a9c3a072025-08-20T02:16:06ZengBMCBMC Cancer1471-24072025-04-0125111210.1186/s12885-025-14082-3Role of MRE11 in DNA damage repair pathway dynamics and its diagnostic and prognostic significance in hereditary breast and ovarian cancerBhoomi Tarapara0Franky Shah1Department of Life-Science, Gujarat University and Young Scientist (DHR-ICMR), Molecular Diagnostic & Research Lab-3, Department of Cancer Biology, The Gujarat Cancer & Research InstituteDepartment of Cancer Biology, Molecular Diagnostic & Research Lab- 3, The Gujarat Cancer & Research InstituteAbstract 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.https://doi.org/10.1186/s12885-025-14082-3Hereditary breast and ovarian cancerDNA damage repairPeripheral bloodReal time PCRBRCA1BRCA2 |
| spellingShingle | Bhoomi Tarapara Franky Shah Role of MRE11 in DNA damage repair pathway dynamics and its diagnostic and prognostic significance in hereditary breast and ovarian cancer BMC Cancer Hereditary breast and ovarian cancer DNA damage repair Peripheral blood Real time PCR BRCA1 BRCA2 |
| title | Role of MRE11 in DNA damage repair pathway dynamics and its diagnostic and prognostic significance in hereditary breast and ovarian cancer |
| title_full | Role of MRE11 in DNA damage repair pathway dynamics and its diagnostic and prognostic significance in hereditary breast and ovarian cancer |
| title_fullStr | Role of MRE11 in DNA damage repair pathway dynamics and its diagnostic and prognostic significance in hereditary breast and ovarian cancer |
| title_full_unstemmed | Role of MRE11 in DNA damage repair pathway dynamics and its diagnostic and prognostic significance in hereditary breast and ovarian cancer |
| title_short | Role of MRE11 in DNA damage repair pathway dynamics and its diagnostic and prognostic significance in hereditary breast and ovarian cancer |
| title_sort | role of mre11 in dna damage repair pathway dynamics and its diagnostic and prognostic significance in hereditary breast and ovarian cancer |
| topic | Hereditary breast and ovarian cancer DNA damage repair Peripheral blood Real time PCR BRCA1 BRCA2 |
| url | https://doi.org/10.1186/s12885-025-14082-3 |
| work_keys_str_mv | AT bhoomitarapara roleofmre11indnadamagerepairpathwaydynamicsanditsdiagnosticandprognosticsignificanceinhereditarybreastandovariancancer AT frankyshah roleofmre11indnadamagerepairpathwaydynamicsanditsdiagnosticandprognosticsignificanceinhereditarybreastandovariancancer |