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. 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

Methodology:

Deletion/Duplication: Deletion/duplication analysis for PMS2 can be carried out by multiplex ligation-dependent probe amplification (MLPA) of all exons, or by array comparative genomic hybridization (aCGH).

Sanger sequencing of all 15 protein coding exons is also available.

Test reporting follows the ACMG Standards & Guidelines for Clinical Genetics Laboratories.

Specimen Requirements:

Blood: EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 2-3mL
  • Infant: 1-2mL

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

14-21 days

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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