Fig. 2

Analysis of mismatch repair genes in the proband and proband’s elder sister. A Proband’s immunohistochemical analysis for MLH1, MSH2, MSH6, and PMS2 revealed negative staining for MLH1 and PMS2, representing the loss of expression. B Results of immunohistochemical analysis of the proband’s elder sister showed negative staining for MLH1, MSH2, MSH6, and PMS2