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Case report: a glioma patient diagnosed as constitutional mismatch repair deficiency syndrome (CMMRD) with a de novo germline variant in PMS2

2023-03-13

Abstract excerpt

<h4>Background: </h4> Constitutional mismatch repair deficiency syndrome (CMMRD) is a rare autosomal recessive condition caused by biallelic mutations in mismatch repair (MMR) genes. 60% of CMMRD is caused by PMS2. CMMRD is often associated with a higher risk of malignancy in children and adolescents, with brain malignancies accounting for 50% of CMMRD cases. Currently, the diagnosis of CMMRD remains flawed, inclu...

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Literature Corpus work: 9781b72e-aa75-5c69-845c-9b94a2bf09b9
DOI: 10.21203/rs.3.rs-2620623/v1

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