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
Mismatch repair endonuclease PMS2
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-04-28
Construct for LOINC Short Name
MMR endo PMS2

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP212192-1

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 错配修复内切核酸酶 PMS2
Synonyms: 错配修复（MMR）内切核酸酶 PMS2
es-ES Spanish (Spain) Endonucleasa PMS2 de reparación de errores
it-IT Italian (Italy) Riparazione della mancata corrispondenza endonucleasi PMS2
nl-NL Dutch (Netherlands) mismatch repair endonuclease PMS2