Sensitive detection of microsatellite instability in tissues and liquid biopsies: Recent developments and updates
Microsatellite instability (MSI), a phenotype displayed as deletions/insertions of repetitive genomic sequences, has drawn great attention due to its application in cancer including diagnosis, prognosis and immunotherapy response prediction. Several methods have been developed for the detection of M...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2021-01-01
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| Series: | Computational and Structural Biotechnology Journal |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2001037021003688 |
| _version_ | 1831641530983514112 |
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| author | Fangyan Yu Alexander Makrigiorgos Ka Wai Leong G. Mike Makrigiorgos |
| author_facet | Fangyan Yu Alexander Makrigiorgos Ka Wai Leong G. Mike Makrigiorgos |
| author_sort | Fangyan Yu |
| collection | DOAJ |
| description | Microsatellite instability (MSI), a phenotype displayed as deletions/insertions of repetitive genomic sequences, has drawn great attention due to its application in cancer including diagnosis, prognosis and immunotherapy response prediction. Several methods have been developed for the detection of MSI, facilitating the MSI classification of cancer patients. In view of recent interest in minimally-invasive detection of MSI via liquid biopsy samples, which requires methods with high sensitivity to identify small fractions of altered DNA in the presence of large amount of wild type copies, sensitive MSI detection approaches are emerging. Here we review the available MSI detection methods and their detection limits and focus on recently developed next-generation-sequencing based approaches and bioinformatics algorithms available for MSI analysis in various cancer types. |
| first_indexed | 2024-12-19T12:26:55Z |
| format | Article |
| id | doaj.art-be7ae32254934254b2e8504512a4e937 |
| institution | Directory Open Access Journal |
| issn | 2001-0370 |
| language | English |
| last_indexed | 2024-12-19T12:26:55Z |
| publishDate | 2021-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Computational and Structural Biotechnology Journal |
| spelling | doaj.art-be7ae32254934254b2e8504512a4e9372022-12-21T20:21:33ZengElsevierComputational and Structural Biotechnology Journal2001-03702021-01-011949314940Sensitive detection of microsatellite instability in tissues and liquid biopsies: Recent developments and updatesFangyan Yu0Alexander Makrigiorgos1Ka Wai Leong2G. Mike Makrigiorgos3Department of Radiation Oncology, Dana-Farber Cancer Institute and Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USADepartment of Radiation Oncology, Dana-Farber Cancer Institute and Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USADepartment of Radiation Oncology, Dana-Farber Cancer Institute and Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USACorresponding author at: Dana Farber Cancer Institute, 450 Brookline Avenue, Boston, MA 02115, USA.; Department of Radiation Oncology, Dana-Farber Cancer Institute and Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USAMicrosatellite instability (MSI), a phenotype displayed as deletions/insertions of repetitive genomic sequences, has drawn great attention due to its application in cancer including diagnosis, prognosis and immunotherapy response prediction. Several methods have been developed for the detection of MSI, facilitating the MSI classification of cancer patients. In view of recent interest in minimally-invasive detection of MSI via liquid biopsy samples, which requires methods with high sensitivity to identify small fractions of altered DNA in the presence of large amount of wild type copies, sensitive MSI detection approaches are emerging. Here we review the available MSI detection methods and their detection limits and focus on recently developed next-generation-sequencing based approaches and bioinformatics algorithms available for MSI analysis in various cancer types.http://www.sciencedirect.com/science/article/pii/S2001037021003688Microsatellite instabilityNext-generation-sequencingAlu-PCRCirculating-DNALiquid biopsy |
| spellingShingle | Fangyan Yu Alexander Makrigiorgos Ka Wai Leong G. Mike Makrigiorgos Sensitive detection of microsatellite instability in tissues and liquid biopsies: Recent developments and updates Computational and Structural Biotechnology Journal Microsatellite instability Next-generation-sequencing Alu-PCR Circulating-DNA Liquid biopsy |
| title | Sensitive detection of microsatellite instability in tissues and liquid biopsies: Recent developments and updates |
| title_full | Sensitive detection of microsatellite instability in tissues and liquid biopsies: Recent developments and updates |
| title_fullStr | Sensitive detection of microsatellite instability in tissues and liquid biopsies: Recent developments and updates |
| title_full_unstemmed | Sensitive detection of microsatellite instability in tissues and liquid biopsies: Recent developments and updates |
| title_short | Sensitive detection of microsatellite instability in tissues and liquid biopsies: Recent developments and updates |
| title_sort | sensitive detection of microsatellite instability in tissues and liquid biopsies recent developments and updates |
| topic | Microsatellite instability Next-generation-sequencing Alu-PCR Circulating-DNA Liquid biopsy |
| url | http://www.sciencedirect.com/science/article/pii/S2001037021003688 |
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