Sensitive detection of microsatellite instability in tissues and liquid biopsies: Recent developments and updates

Computational and Structural Biotechnology Journal

G. Mike Makrigiorgos¹  Fangyan Yu²  Alexander Makrigiorgos²  Ka Wai Leong² 

[1] Corresponding 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, USA;

关键词: Microsatellite instability;    Next-generation-sequencing;    Alu-PCR;    Circulating-DNA;    Liquid biopsy;   

DOI  :  

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown