Classifying MMR variants: time for revised nomenclature in Lynch syndrome.
review · Level V
Where this comes from
- Record sourced from PubMed, PMID 23532885.
- Also identified by DOI 10.1158/1078-0432.CCR-13-0392 and PMC identifier 3854938.
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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.
Medical subject headings
- Adaptor Proteins, Signal Transducing
- Colorectal Neoplasms, Hereditary Nonpolyposis
- Nuclear Proteins