A novel algorithm for the detection of microsatellite instability in endometrial cancer using next‑generation sequencing data Article Swipe
Bing Bing Zhou
,
Yu Wang
,
Lu Ding
,
Xiaolei Tian
,
Wu Sun
,
Wei Zhang
,
Yinhua Liu
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.3892/ol.2024.14832
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.3892/ol.2024.14832
The molecular-based detection of microsatellite instability (MSI) in endometrial cancer is complex, due to the low sensitivity of PCR and a lack of standardization in next-generation sequencing (NGS) methods. In the present study, sequenced data were obtained from an NGS panel following the addition of five commonly used microsatellite loci. Subsequently, a novel algorithm, namely MSIPeak, was developed for data analysis. Results of the present study demonstrated that MSI data obtained using MSIPeak were presented in a peak, using a threshold of 1.10 to distinguish stable and unstable loci. MSIPeak was further validated using synthetic DNA samples and endometrial cancer tissue and the results were compared with the immunohistochemical analysis-determined mismatch repair status. The PCR results demonstrated a 3-base-pair (bp) deletion in synthetic DNA samples, compared with 1- and 2-bp deletion controls. Results obtained using MSIPeak demonstrated notable differences in peak profiles and positive scores in synthetic DNA samples with 1-, 2- and 3-bp deletions, compared with controls. Thus, the results of the present study demonstrated that NGS-based MSI detection exhibited a higher sensitivity compared with PCR. In addition, NGS-based MSI detection exhibited higher levels of repeatability and applicability compared with other MSI-NGS-based methods, such as MSISensor2 and MANTIS. Collectively, the results of the present study highlighted that the combination of MSIPeak and NGS exhibits potential in the detection of cancer.
Related Topics
Concepts
Endometrial cancer
Microsatellite instability
Cancer
Oncogene
Algorithm
Computational biology
Biology
Microsatellite
Computer science
Cell cycle
Genetics
Gene
Allele
Metadata
- Type
- article
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- en
- Landing Page
- https://doi.org/10.3892/ol.2024.14832
- OA Status
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- Related Works
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- OpenAlex ID
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All OpenAlex metadata
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https://openalex.org/W4404979383Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3892/ol.2024.14832Digital Object Identifier
- Title
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A novel algorithm for the detection of microsatellite instability in endometrial cancer using next‑generation sequencing dataWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2024Year of publication
- Publication date
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2024-12-03Full publication date if available
- Authors
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Bing Bing Zhou, Yu Wang, Lu Ding, Xiaolei Tian, Wu Sun, Wei Zhang, Yinhua LiuList of authors in order
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https://doi.org/10.3892/ol.2024.14832Publisher landing page
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YesWhether a free full text is available
- OA status
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diamondOpen access status per OpenAlex
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https://doi.org/10.3892/ol.2024.14832Direct OA link when available
- Concepts
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Endometrial cancer, Microsatellite instability, Cancer, Oncogene, Algorithm, Computational biology, Biology, Microsatellite, Computer science, Cell cycle, Genetics, Gene, AlleleTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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10Other works algorithmically related by OpenAlex
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