Version 2.78

Description

DNA mismatch repair proteins Mlh1, Msh2 and Msh6, and PMS2, an endonuclease, are all part of the post-replicative DNA mismatch repair system (MMR). Mutations in the MMR are associated with various hereditary cancer syndromes, including hereditary non-polyposis colorectal cancer (HNPCC) and mismatch repair cancer syndrome (MMRCS). HNPCC, also known as Lynch syndrome, is an autosomal dominant disease associated with familial predisposition to early-onset colorectal cancer (CRC) as well as cancer of other parts of the gastrointestinal tract, urological, and female reproductive tract. MMRCS is a rare autosomal recessive syndrome associated with various types of childhood cancer, including hematological malignancies, central nervous system tumors, CRC, intestinal polyps, embryonic tumors and rhabdomyosarcoma. [Uniprot: P40692] The pattern of immune staining for the different MMR proteins in biopsy or resection samples from colonic and other tumors associated with the above syndromes can provide information about the risk of Lynch syndrome and can help direct further genetic testing. PMID: 21297438 Source: Regenstrief LOINC, Uniprot: P40692

Basic Part Properties

Part Display Name
DNA mismatch repair protein Mlh1
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-04-28
Construct for LOINC Short Name
MMR prot Mlh1

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP212189-7

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) DNA 错配修复蛋白 Mlh1
Synonyms: DNA 错配修复（MMR）蛋白 Mlh1
es-ES Spanish (Spain) Proteína Mlh1 de repación de errores del ADN
it-IT Italian (Italy) Mancata corrispondenza della riparazione del DNA proteina Mlh1
nl-NL Dutch (Netherlands) DNA mismatch repair proteïne Mlh1