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Updated: May 12, 2026
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Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
Published on: November 26, 2018
Classifying MMR variants: time for revised nomenclature in Lynch syndrome
1Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas 77230, USA. ynyou@mdanderson.org
Abstract:
Inactivating germline mutations in DNA mismatch repair (MMR) genes are diagnostic for Lynch syndrome. However, the clinical significance of missense variants is uncertain. A threshold level of compromised MLH1 expression, correlating with greater protein instability and MMR functional defect, has been identified to help classify the pathogenicity of missense variants.