Microsatellite Instability (MSI), HNPCC/Lynch Syndrome

Medical Test

Mutations of genes in hMLH1, hMSH2, hPMS1, and hPMS2 (one or more) are present in individuals with HNPCC
>30-40% : MSI-H phenotype

Increased in:

• Colorectal cancer, some
• Endometrial cancer, some
• Ovarian Cancer, some
• Stomach Cancer, some

Decreased in:

• Tumors associated with MSH6 mutations.