MLH1/PMS2 Analyte Control
Our MLH1/PMS2 Analyte Control contains 2 cell lines, one with intact expression for MLH1 and PMS2 and one with loss of expression for MLH1 and PMS2.
This two core product is a cost effective means of controlling for MLH1 and PMS2 assays over the four core MMR Analyte Control. However, it cannot be used with the other MMR assays.
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Introduction to mismatch repair (MMR)
Mismatch repair (MMR) proteins are involved in repairing errors that are formed as part of DNA replication, e.g. point mutations. Although there are several known MMR proteins, four of these play a particularly important clinical role in human cancer biology – MLH1, MSH2, MSH6 and PMS2. These four proteins are arranged as heterodimers (MLH1 complexing with PMS2 and MSH2 complexing with MSH6) to recognise mismatched nucleotide base pairs caused by errors in deletion or insertion.
A mutation in one or more of these MMR proteins leads to impaired DNA repair which can result in microsatellite instability (MSI) and increased likelihood of cancers such as colorectal and endometrial carcinomas. MMR deficiency (dMMR) caused by mutations to MMR proteins can be termed as Lynch syndrome and accounts for 3-5% and 2-3% of colorectal and endometrial carcinomas, respectively.
Assessment
dMMR can be diagnosed either molecularly (through detection of MSI) or by showing loss of nuclear protein expression in tumour cells using IHC.
