A novel algorithm for the detection of microsatellite instability in endometrial cancer using next‑generation sequencing data.

ABSTRACT: 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 res

SUBMITTER: Zhou B 

PROVIDER: S-EPMC11632413 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature