MICROSATELLITE INSTABILITY DETECTION

For some cancers, microsatellite instability (MSI) in cell-free DNA can indicate the presence of a cancer in a subject. Subjects can generate a DNA sample for analysis to determine a likelihood that MSI exists and, thereby, determine a likelihood that the sample includes cancer. A system determines...

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Format Patent
LanguageEnglish
Published 28.12.2018
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Summary:For some cancers, microsatellite instability (MSI) in cell-free DNA can indicate the presence of a cancer in a subject. Subjects can generate a DNA sample for analysis to determine a likelihood that MSI exists and, thereby, determine a likelihood that the sample includes cancer. A system determines a likelihood that the sample includes MSI by selecting a set of markers from the sample and determining if those markers include MSI associated with cancer. The system determines if a marker is significant in by calculating: a viability score, a significance score, an entropy score, and a divergence score. The processing system determines an instability score representing a likelihood that the sample includes MSI based on the determined marker significances. Based on the instability score, the processing system can determine that a sample includes MSI and inform a method of treatment for the subject.