Background:
The protein, Postmeiotic Segregation Increased 2 (PMS2), is a component of the mismatch repair genes. PMS2 interacts with the protein MLH1 and assists correcting DNA replication mistakes. Mutations in this gene have been shown to contribute to about 5% of Hereditary Nonpolyposis Colon cancer, as well as pancreatic and ovarian cancers. PMS2 testing is also recommended upon detection of microsatellite instability (MSI) in tumor tissues due to the possibility deficits in the DNA mismatch repair machinery. This Sanger sequencing test is designed to detect germline variants in all 15 protein coding exons of PMS2. An initial long range PCR step has been designed to ensure any variation detected is not attributed to any of the PMS2 pseudogenes. Additionally, MLPA or CGH microarray can analyze copy number changes as well. It is recommended that additional family members to be tested upon detection of a pathogenic variant.
Reasons for Referral:
- Microsatellite instability detection in tumors
- Lynch syndrome
- Colon cancer
- Pancreatic cancer
- Ovarian cancer
- Family history
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added if clinically indicated.
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