Fig. 1.
MSH6 mismatch repair deficiency. Top, isolated loss of MSH6 expression by immunohistochemistry; left shows normal expression of MSH2, and right shows loss of MSH6 expression. Middle, MSI testing in case 75 showing instability for all five mononucleotide repeats. Penta D and Penta D correspond to pentanucleotide repeats used as controls. Bottom, MSH6 sequence electropherogram showing the p.S1279P mutation.