Non-myogenic tumors display altered expression of dystrophin (DMD) and a high frequency of genetic alterations
DMD gene mutations have been associated with the development of Dystrophinopathies. Interestingly, it has been recently reported that DMD is involved in the development and progression of myogenic tumors, assigning DMD a tumor suppressor activity in these types of cancer. However, there are only few...
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2017
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| Acceso en línea: | https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_19492553_v8_n1_p145_Luce http://hdl.handle.net/20.500.12110/paper_19492553_v8_n1_p145_Luce |
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paper:paper_19492553_v8_n1_p145_Luce2023-06-08T16:32:39Z Non-myogenic tumors display altered expression of dystrophin (DMD) and a high frequency of genetic alterations DMD Dystrophin Gene expression Genetic alteration Survival dystrophin Article benign neoplasm breast cancer cancer growth cancer prognosis cancer survival controlled study disease association DMD gene gene expression regulation gene identification gene mutation gene overexpression genetic association genetic disorder microarray analysis mutational analysis non myogenic tumor overall survival RNA sequence survival rate survival time tumor suppressor gene uterus cancer DMD gene mutations have been associated with the development of Dystrophinopathies. Interestingly, it has been recently reported that DMD is involved in the development and progression of myogenic tumors, assigning DMD a tumor suppressor activity in these types of cancer. However, there are only few reports that analyze DMD in non-myogenic tumors. Our study was designed to examine DMD expression and genetic alterations in non-myogenic tumors using public repositories. We also evaluated the overall survival of patients with and without DMD mutations. We studied 59 gene expression microarrays (GEO database) and RNAseq (cBioPortal) datasets that included 9817 human samples. We found reduced DMD expression in 15/27 (56%) pairwise comparisons performed (Fold-Change (FC) ≤ 0.70; p-value range = 0.04-1.5x10-20). The analysis of RNAseq studies revealed a median frequency of DMD genetic alterations of 3.4%, higher or similar to other well-known tumor suppressor genes. In addition, we observed significant poorer overall survival for patients with DMD mutations. The analyses of paired tumor/normal tissues showed that the majority of tumor specimens had lower DMD expression compared to their normal adjacent counterpart. Interestingly, statistical significant over-expression of DMD was found in 6/27 studies (FC ≥ 1.4; p-value range = 0.03-3.4x10-15). These results support that DMD expression and genetic alterations are frequent and relevant in non-myogenic tumors. The study and validation of DMD as a new player in tumor development and as a new prognostic factor for tumor progression and survival are warranted. 2017 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_19492553_v8_n1_p145_Luce http://hdl.handle.net/20.500.12110/paper_19492553_v8_n1_p145_Luce |
| institution |
Universidad de Buenos Aires |
| institution_str |
I-28 |
| repository_str |
R-134 |
| collection |
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
DMD Dystrophin Gene expression Genetic alteration Survival dystrophin Article benign neoplasm breast cancer cancer growth cancer prognosis cancer survival controlled study disease association DMD gene gene expression regulation gene identification gene mutation gene overexpression genetic association genetic disorder microarray analysis mutational analysis non myogenic tumor overall survival RNA sequence survival rate survival time tumor suppressor gene uterus cancer |
| spellingShingle |
DMD Dystrophin Gene expression Genetic alteration Survival dystrophin Article benign neoplasm breast cancer cancer growth cancer prognosis cancer survival controlled study disease association DMD gene gene expression regulation gene identification gene mutation gene overexpression genetic association genetic disorder microarray analysis mutational analysis non myogenic tumor overall survival RNA sequence survival rate survival time tumor suppressor gene uterus cancer Non-myogenic tumors display altered expression of dystrophin (DMD) and a high frequency of genetic alterations |
| topic_facet |
DMD Dystrophin Gene expression Genetic alteration Survival dystrophin Article benign neoplasm breast cancer cancer growth cancer prognosis cancer survival controlled study disease association DMD gene gene expression regulation gene identification gene mutation gene overexpression genetic association genetic disorder microarray analysis mutational analysis non myogenic tumor overall survival RNA sequence survival rate survival time tumor suppressor gene uterus cancer |
| description |
DMD gene mutations have been associated with the development of Dystrophinopathies. Interestingly, it has been recently reported that DMD is involved in the development and progression of myogenic tumors, assigning DMD a tumor suppressor activity in these types of cancer. However, there are only few reports that analyze DMD in non-myogenic tumors. Our study was designed to examine DMD expression and genetic alterations in non-myogenic tumors using public repositories. We also evaluated the overall survival of patients with and without DMD mutations. We studied 59 gene expression microarrays (GEO database) and RNAseq (cBioPortal) datasets that included 9817 human samples. We found reduced DMD expression in 15/27 (56%) pairwise comparisons performed (Fold-Change (FC) ≤ 0.70; p-value range = 0.04-1.5x10-20). The analysis of RNAseq studies revealed a median frequency of DMD genetic alterations of 3.4%, higher or similar to other well-known tumor suppressor genes. In addition, we observed significant poorer overall survival for patients with DMD mutations. The analyses of paired tumor/normal tissues showed that the majority of tumor specimens had lower DMD expression compared to their normal adjacent counterpart. Interestingly, statistical significant over-expression of DMD was found in 6/27 studies (FC ≥ 1.4; p-value range = 0.03-3.4x10-15). These results support that DMD expression and genetic alterations are frequent and relevant in non-myogenic tumors. The study and validation of DMD as a new player in tumor development and as a new prognostic factor for tumor progression and survival are warranted. |
| title |
Non-myogenic tumors display altered expression of dystrophin (DMD) and a high frequency of genetic alterations |
| title_short |
Non-myogenic tumors display altered expression of dystrophin (DMD) and a high frequency of genetic alterations |
| title_full |
Non-myogenic tumors display altered expression of dystrophin (DMD) and a high frequency of genetic alterations |
| title_fullStr |
Non-myogenic tumors display altered expression of dystrophin (DMD) and a high frequency of genetic alterations |
| title_full_unstemmed |
Non-myogenic tumors display altered expression of dystrophin (DMD) and a high frequency of genetic alterations |
| title_sort |
non-myogenic tumors display altered expression of dystrophin (dmd) and a high frequency of genetic alterations |
| publishDate |
2017 |
| url |
https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_19492553_v8_n1_p145_Luce http://hdl.handle.net/20.500.12110/paper_19492553_v8_n1_p145_Luce |
| _version_ |
1768542432403652608 |