PMS2


Also found in: Acronyms.

PMS2

A gene on 7p22.2 that encodes a mismatch repair enzyme that scans newly replicated DNA for errors and repairs mismatched bases in the DNA. The enzyme forms a heterodimer with MLH1, and this complex interacts with other complexes bound to mismatched bases.

Molecular pathology
Defects in PMS2 cause hereditary nonpolyposis colorectal cancer type 4, Turcot syndrome and supratentorial primitive neuroectodermal tumours.
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The gene with the most exon failures was PMS2 (exons 2, 3, 4, 5, 12, 14, and 15); however, no PMS2 exons with inadequate coverage were seen in the TruSeq data set.
Clinical exome performance for reporting secondary genetic findings
En este gen se ha identificado el mayor numero de mutaciones que generan la perdida total del sistema MMR porque, junto con PMS2, permite la interaccion de las enzimas encargadas de la escision de nucleotidos con las proteinas que reconocen el dano en el ADN (51).
Bases moleculares del cancer colorrectal
According to the company, the panel of five assays includes four that target MMR proteins MLH1, MSH2, MSH6 and PMS2, as well as the VENTANA BRAF V600E (VE1) assay.
Roche wins US FDA clearance for the VENTANA MMR IHC Panel for colorectal cancer
Many clinically relevant genes (such as PMS2, STRC) have pseudogenes, are challenging to interpret by NGS, and require specialized methods for target enrichment such as long-range PCR.
Review of Clinical Next-Generation Sequencing
MSH2 / MLH1 / MSH6 / PMS2 (in the case of the characteristics of awakening suspicion of Lynch syndrome).
Data collection pedigree and clinical performance of dna tests
The protocol enables sequencing of 255 kb DNA from 94 genes including MLH1, MSH2, MSH6, and PMS2,as well as 284 single nucleotide polymorphisms using 4000 80-mer probes designed from the human NCBI2137/hg19 reference genome.
Feasibility of low-throughput next generation sequencing for germline DNA screening
Affected relative with a known genetic mutation (MLH1, MSH2, MSH6, PMS2, EPCAM)
Hereditary cancer risk assessment in obstetrics and gynecology: the evolving standard of care
Because the clinical criteria used to identify patients with Lynch syndrome suffer from low sensitivity, recent guidelines recommend universal testing of all newly diagnosed CRCs by either microsatellite instability (MSI) analysis or immunohistochemistry for the expression of DNA mismatch repair (MMR) proteins MLH1, MSH2, MSH6, and PMS2.
Practical Immunohistochemistry in Neoplastic Pathology of the Gastrointestinal Tract, Liver, Biliary Tract, and Pancreas
coli) (MLH1), (4) DNA mismatch repair protein Msh2 (MSH2), mutS homolog 6 (MSH6), mismatch repair endonuclease PMS2 (PMS2), and epithelial cell adhesion molecule (EPCAM), such as occurs in patients with Lynch syndrome, for whom more than 90% of colon cancers test MSI positive (1, 2).
Microsatellite instability detection by next generation sequencing
69,93) Loss of nuclear staining for both MLH1 and PMS2 is most likely a somatic alteration due to hypermethylation of the MLH1 promoter.
Immunohistochemistry in Gynecologic Pathology: An Example-Based Practical Update
The test is designed to identify a genetic predisposition to HNPCC by analysing MSH2 and its upstream gene EPCAM, as well as the MLH1, MSH6 and PMS2 genes.
Genomic Vision validates Lynch Syndrome test
LS is an autosomal dominant disorder caused by germ line-inactivating mutations in one of the 4 DNA mismatch-repair (MMR) genes: MLH14 (mutL homolog 1), MSH2 (mutS homolog 2), MSH6 (mutS homolog 6), and PMS2 [postmeiotic segregation increased 2 (S.
Lynch syndrome presenting as endometrial cancer

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