Non-Coding Variants in Cancer: Mechanistic Insights and Clinical Potential for Personalized Medicine
The cancer genome is characterized by extensive variability, in the form of Single Nucleotide Polymorphisms (SNPs) or structural variations such as Copy Number Alterations (CNAs) across wider genomic areas. At the molecular level, most SNPs and/or CNAs reside in non-coding sequences, ultimately affe...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-08-01
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| Series: | Non-Coding RNA |
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| Online Access: | https://www.mdpi.com/2311-553X/7/3/47 |
| _version_ | 1797517859548561408 |
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| author | Marios Lange Rodiola Begolli Antonis Giakountis |
| author_facet | Marios Lange Rodiola Begolli Antonis Giakountis |
| author_sort | Marios Lange |
| collection | DOAJ |
| description | The cancer genome is characterized by extensive variability, in the form of Single Nucleotide Polymorphisms (SNPs) or structural variations such as Copy Number Alterations (CNAs) across wider genomic areas. At the molecular level, most SNPs and/or CNAs reside in non-coding sequences, ultimately affecting the regulation of oncogenes and/or tumor-suppressors in a cancer-specific manner. Notably, inherited non-coding variants can predispose for cancer decades prior to disease onset. Furthermore, accumulation of additional non-coding driver mutations during progression of the disease, gives rise to genomic instability, acting as the driving force of neoplastic development and malignant evolution. Therefore, detection and characterization of such mutations can improve risk assessment for healthy carriers and expand the diagnostic and therapeutic toolbox for the patient. This review focuses on functional variants that reside in transcribed or not transcribed non-coding regions of the cancer genome and presents a collection of appropriate state-of-the-art methodologies to study them. |
| first_indexed | 2024-03-10T07:21:09Z |
| format | Article |
| id | doaj.art-4f1b3bc4c2104935988e647f9d874250 |
| institution | Directory Open Access Journal |
| issn | 2311-553X |
| language | English |
| last_indexed | 2024-03-10T07:21:09Z |
| publishDate | 2021-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Non-Coding RNA |
| spelling | doaj.art-4f1b3bc4c2104935988e647f9d8742502023-11-22T14:33:10ZengMDPI AGNon-Coding RNA2311-553X2021-08-01734710.3390/ncrna7030047Non-Coding Variants in Cancer: Mechanistic Insights and Clinical Potential for Personalized MedicineMarios Lange0Rodiola Begolli1Antonis Giakountis2Department of Biochemistry and Biotechnology, University of Thessaly, Biopolis, 41500 Larissa, GreeceDepartment of Biochemistry and Biotechnology, University of Thessaly, Biopolis, 41500 Larissa, GreeceDepartment of Biochemistry and Biotechnology, University of Thessaly, Biopolis, 41500 Larissa, GreeceThe cancer genome is characterized by extensive variability, in the form of Single Nucleotide Polymorphisms (SNPs) or structural variations such as Copy Number Alterations (CNAs) across wider genomic areas. At the molecular level, most SNPs and/or CNAs reside in non-coding sequences, ultimately affecting the regulation of oncogenes and/or tumor-suppressors in a cancer-specific manner. Notably, inherited non-coding variants can predispose for cancer decades prior to disease onset. Furthermore, accumulation of additional non-coding driver mutations during progression of the disease, gives rise to genomic instability, acting as the driving force of neoplastic development and malignant evolution. Therefore, detection and characterization of such mutations can improve risk assessment for healthy carriers and expand the diagnostic and therapeutic toolbox for the patient. This review focuses on functional variants that reside in transcribed or not transcribed non-coding regions of the cancer genome and presents a collection of appropriate state-of-the-art methodologies to study them.https://www.mdpi.com/2311-553X/7/3/47cancernon-coding variabilitySNPsCNVslncRNAsmiRNAs |
| spellingShingle | Marios Lange Rodiola Begolli Antonis Giakountis Non-Coding Variants in Cancer: Mechanistic Insights and Clinical Potential for Personalized Medicine Non-Coding RNA cancer non-coding variability SNPs CNVs lncRNAs miRNAs |
| title | Non-Coding Variants in Cancer: Mechanistic Insights and Clinical Potential for Personalized Medicine |
| title_full | Non-Coding Variants in Cancer: Mechanistic Insights and Clinical Potential for Personalized Medicine |
| title_fullStr | Non-Coding Variants in Cancer: Mechanistic Insights and Clinical Potential for Personalized Medicine |
| title_full_unstemmed | Non-Coding Variants in Cancer: Mechanistic Insights and Clinical Potential for Personalized Medicine |
| title_short | Non-Coding Variants in Cancer: Mechanistic Insights and Clinical Potential for Personalized Medicine |
| title_sort | non coding variants in cancer mechanistic insights and clinical potential for personalized medicine |
| topic | cancer non-coding variability SNPs CNVs lncRNAs miRNAs |
| url | https://www.mdpi.com/2311-553X/7/3/47 |
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