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Epithelial ovarian cancer is the fifth leading cause of cancer mortality in women and is the leading cause of death due to gynecologic cancer in the United States.

There have been significant improvements in the survival of patients with metastatic colorectal cancer (mCRC) over the past decade. However, patients with the disease who fail to respond to first- or second-line therapies, including chemotherapy and monoclonal antibodies, have few treatment options. Advances in subsequent treatment lines rather than in first- or second-line therapies now drive improvements in survival for these patients.

Following the advent of molecularly targeted agents, and more recently, immunotherapy, over the past few decades, we have witnessed dramatic changes in the treatment paradigms for many types of cancer. These advancements were driven by molecular profiling that enabled the identification of those patient populations most likely to benefit from targeted therapy and/or immunotherapy—that is, precision medicine.
There is renewed interest in MSI analysis because the MSI-H/dMMR phenotype has emerged as an actionable predictive biomarker for immune checkpoint blockade therapy in different cancer types. This review presents available evidence supporting the clinical relevance and predictive value of MSI/dMMR in cancers, including those treated with immune checkpoint inhibitors (ICIs), and outlines the diagnostic approaches developed to assess MSI/dMMR in clinical practice.
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