81691-8
DNA mismatch repair protein Mlh1 [Presence] in Cancer specimen by Immune stain
Active
Part Description
LP212189-7 DNA mismatch repair protein Mlh1
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
- DNA mismatch repair protein Mlh1
- Property
- PrThr
- Time
- Pt
- System
- Cancer specimen
- Scale
- Ord
- Method
- Immune stain
Additional Names
- Short Name
- MMR prot Mlh1 Ca spec Ql ImStn
- Display Name
- DNA mismatch repair protein Mlh1 Immune stain Ql (Cancer specimen)
- Consumer Name Alpha Get Info
- DNA mismatch repair protein mlh1, 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) | Proteína Mlh1 de repación de errores del ADN: |
| es-MX | Spanish (Mexico) | Proteína de reparación de desajustes de ADN Mlh1: |
| it-IT | Italian (Italy) | Mancata corrispondenza della riparazione del DNA proteina Mlh1: Synonyms: Campione di tumore Neoplasia maligna Patologia Presenza o Soglia Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | DNA 错配修复蛋白 Mlh1: Synonyms: DNA 错配修复（MMR）蛋白 Mlh1 PR; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=81691-8
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