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Published on: April 28, 2021
Alterations of the double-strand break repair gene MRE11 in cancer
T Fukuda1, T Sumiyoshi, M Takahashi
1Department of Molecular Pathology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan.
Abstract:
MRE11 plays a role in DNA double-strand break repair. Hypomorphic mutations of MRE11 have been demonstrated in ataxia-telangiectasia (AT)-like disorder. ATM mutations play a causal role in AT and have been demonstrated in lymphoid malignancies in patients without AT histories. By analogy with the relationship of ATM to lymphoid malignancies, it is probable that alterations of MRE11 are associated with tumor formation. We performed a mutation analysis of MRE11 in 159 unselected primary tumors. Three missense mutations at conserved positions were found in breast and lymphoid tumors. Additionally, an aberrant transcript without genomic mutation was found in a breast tumor. These findings suggest an occasional role for MRE11 alterations in the development of primary tumors.
Insights
Alterations in the MRE11 gene, crucial for DNA repair, were investigated in primary tumors. These findings suggest MRE11 mutations occasionally contribute to tumor development, particularly in breast and lymphoid cancers.
Area of Science:
- Genetics
- Molecular Biology
- Oncology
Background:
- MRE11 is essential for DNA double-strand break repair.
- Hypomorphic MRE11 mutations are linked to ataxia-telangiectasia (AT)-like disorder.
- ATM mutations cause AT and are implicated in lymphoid malignancies.
Purpose of the Study:
- To investigate the potential association between MRE11 alterations and primary tumor formation.
- To analyze MRE11 gene mutations in a cohort of unselected primary tumors.
Main Methods:
- Mutation analysis of the MRE11 gene.
- Screening of 159 unselected primary tumors for MRE11 alterations.
- Detection of missense mutations and aberrant transcripts.
Main Results:
- Three missense mutations in conserved MRE11 positions were identified in breast and lymphoid tumors.
- An aberrant MRE11 transcript, without a corresponding genomic mutation, was found in a breast tumor.
- These genetic alterations were observed in a subset of the analyzed primary tumors.
Conclusions:
- MRE11 alterations may play an occasional role in the development of primary tumors.
- The findings support the hypothesis that MRE11, similar to ATM, is implicated in tumorigenesis.
- Further research is warranted to elucidate the precise mechanisms of MRE11 in cancer development.
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