Skip to main content
. Author manuscript; available in PMC: 2021 May 1.
Published in final edited form as: Ophthalmology. 2019 Nov 18;127(5):668–678. doi: 10.1016/j.ophtha.2019.11.009

Figure 2: Assessment of biallelic inactivation in tumors from patients with germline variants in MLH1, SMARCE1 and MSH6.

Figure 2:

A) Direct sequencing confirmedthe germline variant c.200G>A, p.Gly67Glu and showed allelic imbalance in the tumor tissue. The variant is reported as pathogenic in ClinVar (rs63749939). B) Immunohistochemistry of tumor and tumor with adjacent non-tumor tissue show loss of nuclear expression of MLH1 protein in all tumor cells with preserved expression in the nuclei in non-tumor tissue. C) and D) A patient showed a null variant in SMARCE1 with variant of uncertain significance in MSH6. Immunohistochemistry showed preserved nuclear expression of SMARCE1 (C) and MSH6 (D) in the tumor.