Version 2.77

Description

Mutations in the MLH1, MSH2, MSH6, and PMS2 genes, which are involved in DNA mismatch repair, are associated with hereditary nonpolyposis colorectal cancer (HNPCC), an autosomal dominant cancer syndrome that confers an elevated risk of early-onset colorectal cancer (CRC). Patients with HNPCC also have an increased lifetime risk for other cancers of the endometrium, stomach, small intestine, hepatobiliary system, kidney, ureter, and ovary. HNPCC is most often associated with mutations in the MLH1 and MSH2 genes. PMID: 19360696 Source: Regenstrief LOINC, PMID:19360696

Basic Part Properties

Part Display Name
MSH2 gene+MLH1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2002-10-02
Construct for LOINC Short Name
MSH2+MLH1 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP30740-2

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) MSH2 基因+MLH1 基因
Synonyms: 错配修复蛋白-2;错配修复蛋白2;DNA mismatch repair protein;MSH2;MutS homologue 2;COCA2;FCC2;hMLH1;HNPCC;HNPCC2;MGC5172;MutL 同源基因 1, 结肠癌, 非多发性息肉 2 型;MutL 同源基因 1, 结肠癌, 非息肉病 2 型
et-EE Estonian (Estonia) MSH2 geen + MLH1 geen
es-ES Spanish (Spain) Gen MSH2 + Gen MLH1
it-IT Italian (Italy) MSH2, gene+gene MSH1
Synonyms: Gene MSH2+gene MSH1
tr-TR Turkish (Turkey) MSH2 geni+MLH1 geni
ru-RU Russian (Russian Federation) MSH2 ген+MLH1 ген
nl-NL Dutch (Netherlands) MSH2-gen + MLH1-gen
Synonyms: MSH2 gen+MLH1 gen