DNA Mismatch Repair Defects and Microsatellite Instability Status in Periocular Sebaceous Carcinoma – Accepted Manuscript

Abstract: Purpose: To characterize mismatch repair protein expression and the role of DNA repair abnormalities in sebaceous carcinomas of the ocular adnexa.Design: This was a retrospective, case series studyMethods: We reviewed ten cases of sporadic sebaceous carcinoma, and one from a patient with a family history consistent with Muir-Torre syndrome. Immunohistochemistry was used to analyze the presence of four mismatch repair proteins (MLH1, MSH2, MSH6, and PMS2) in these tumors. DNA was extracted from 7 of the larger tumors as well as adjacent normal control tissue and microsatellite instability (MSI) analysis using 5 highly sensitive mononucleotides and 2 pentanucleotides was (Read more...)

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