Version 2.78

Part Description

LP212192-1   Mismatch repair endonuclease PMS2
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

Fully-Specified Name

Component
Mismatch repair endonuclease PMS2
Property
PrThr
Time
Pt
System
Cancer specimen
Scale
Ord
Method
Immune stain

Additional Names

Short Name
MMR endo PMS2 Ca spec Ql ImStn
Display Name
Mismatch repair endonuclease PMS2 Immune stain Ql (Cancer specimen)
Consumer Name Alpha Get Info
Mismatch Repair Endonuclease PMS2, Cancer specimen

Example Answer List: LL3993-4

Source: Patient-Centered Outcomes Research Institute
Answer Code Score Answer ID
Intact nuclear expression LA26197-6
Loss of nuclear expression LA26198-4
Undetermined LA14100-4

Basic Attributes

Class
PATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.61
Change Reason
Updated System from "Tiss" to "Cancer.XXX" because DNA mismatch repair testing is performed on cancer specimens.; Updated System from "Cancer.XXX" to clarify that the test is performed on a cancer specimen.
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
85905-8 Cancer pathology panel - Colorectal cancer specimen by CAP cancer protocols

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Endonucleasa PMS2 de reparación de errores:PrThr:Punto temporal:Muestra de cancer:Ord:Tinción de inmunohistoquímica
es-MX Spanish (Mexico) Reparación de desajustes endonucleasa PMS2:Presencia o umbral:Punto temporal:Espécimen de cáncer:Ordinal:Mancha inmune
it-IT Italian (Italy) Riparazione della mancata corrispondenza endonucleasi PMS2:PrThr:Pt:Campione tumore:Ord:Colorazione immunologica
Synonyms: Campione di tumore Neoplasia maligna Patologia Presenza o Soglia Punto nel tempo (episodio)
zh-CN Chinese (China) 错配修复内切核酸酶 PMS2:存在情况或阈值:时间点:癌标本:序数型:免疫染色法
Synonyms: 供检查用的材料;待检物;待试验物;样品;样本;试料;试样 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 免疫染色;免疫组化;免疫组化染色;免疫组化染色法;免疫组化法;免疫组织化学染色;免疫组织化学染色法;细胞免疫染色;细胞免疫染色法 受检物 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 染法 染色方法 染色法 样品 样本 癌 癌（癌症、癌变）标本（样本、样品、试样） 着色 着色方法 着色法 试样 错配修复（MMR）内切核酸酶 PMS2

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=81694-2