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Showing 1 to 2 of 2 for “"unexplained mismatch repair deficiency"”.

  1. Attitudes to ward Updated Genetic Testing Among Patients With Unexplained Mismatch Repair Deficiency

    … (IHC) staining of one or more mismatch repair (MMR) proteins without a causative germline mutation are said to have unexplained mismatch repair deficiency (UMMRD, also known as mutation-negative Lynch syndrome). Comprehensive genetic testing that could potentially further …

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  2. Genetic Counselor Utilization and Interpretation of Somatic Tumor Testing In Evaluation For Lynch Syndrome

    … Individuals with pathogenic variants in the mismatch repair (MMR) genes (<em>MLH1</em>, <em>MSH2/EPCAM</em>, <em>MSH6</em>, <em>PMS2</em>) are diagnosed with LS and subsequently recommended to proceed with high risk screening protocols to increase prevention and early detection of LS-related …

    uthsc Repository record for Genetic Counselor Utilization and Interpretation of Somatic Tumor Testing In Evaluation For Lynch Syndrome (opens in a new tab)