Molecular Mechanisms of Carcinogenesis Associated with MEN1 Gene Mutation

Goliusova, Daria; Klementieva, Natalia V.; Mokrysheva, Natalia; Kiselev, Sergey L.

doi:10.1134/s1022795419080052

Cited by 1 publication

(1 citation statement)

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“…Mutations in the MEN1 gene can cause menin function to be lost or altered, compromising the normal regulation of cell growth and division [ 9 , 42 ]. The C terminal of MEN1 protein has nucleus localizing sequences that are critical for its nuclear import; however there are very limited instances where MEN 1 mutations in cases of sporadic breast cancer are reported [ 9 , 43 ]. We did not find any alteration in these sequences in breast cancer cases included in our study.…”

Section: Discussionmentioning

confidence: 99%

Evaluating the role of MEN1 gene expression and its clinical significance in breast cancer patients

Massey,

Khan,

Rab

et al. 2023

PLoS ONE

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Background Breast cancer is a multifactorial disease which involves number of molecular factors that are critically involved in proliferation of breast cancer cells. MEN1 gene that is traditionally known for its germline mutations in neuroendocrine tumors is associated with high risk of developing breast cancer in females with MEN1 syndrome. However, the paradoxical role of MEN1 is reported in sporadic breast cancer cases. The previous studies indicate the functional significance of MEN1 in regulating breast cells proliferation but its relevance in development and progression of breast cancer is still not known. Our study targets to find the role of MEN1 gene aberration and its clinical significance in breast cancer. Methods Breast tumor and adjacent normal tissue of 142 sporadic breast cancer patients were collected at the time of surgery. The expression analysis of MEN1 mRNA and protein was done through RT-PCR, immunohistochemistry and western blotting. Further to find the genetic and epigenetic alterations, automated sequencing and MS-PCR was performed respectively. Correlation between our findings and clinical parameters was determined using appropriate statistical tests. Results MEN1 expression was found to be significantly increased in the breast tumor tissue with its predominant nuclear localization. The elevated expression of MEN1 mRNA (63.38% cases) and protein (60.56% cases) exhibited a significant association with ER status of the patients. Most of the cases had unmethylated (53.52%) MEN1 promoter region, which can be a key factor responsible for dysregulated expression of MEN1 in breast cancer cases. Our findings also revealed the significant association of MEN1 mRNA overexpression with Age and lymph node status of the patients. Conclusion Our results indicate upregulated expression of MEN1 in sporadic breast cancer patients and it could be critically associated with development and advancement of the disease.

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