Validation of computational determination of microsatellite status using whole exome sequencing data from colorectal cancer patients.

ABSTRACT:

Background

Microsatellite instability (MSI), resulting from a defective mismatch repair system, occurs in approximately 15% of sporadic colorectal cancers (CRC). Since MSI is associated with a poor response to 5-fluorouracile based chemotherapy and is a positive predictive marker of immunotherapy, it is routine practice to evaluate the MSI status of resected tumors in CRC patients. MSIsensor is a novel computational tool for determining MSI status using Next Generation Sequencing. However, it is not widely used in the clinic and has not been independently validated in exome data from CRC. To facilitate clinical implementation of computational determination of MSI status, we compared MSIsensor to current gold standard methods for MSI testing.

Methods

MSI status was determined

SUBMITTER: Johansen AFB 

PROVIDER: S-EPMC6802299 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature