title: Evaluation of a new panel of six mononucleotide repeat markers for the detection of DNA mismatch repair-deficient tumours.
abstract: BACKGROUND
  Microsatellite instability (MSI) is a molecular phenotype due to defective DNA mismatch repair (MMR) system. It is used to predict outcome of colorectal tumours and to screen tumours for Lynch syndrome (LS). A pentaplex panel composed of five mononucleotide markers has been largely recommended for determination of the MSI status. However, its sensitivity may be taken in default in occasional situations. The aim of the study was to optimise this panel for the detection of MSI.
  
  
  METHODS
  We developed an assay allowing co-amplification of six mononucleotide repeat markers (BAT25, BAT26, BAT40, NR21, NR22, NR27) and one polymorphic dinucleotide marker (D3S1260) in a single reaction. Performances of the new panel were evaluated on a cohort of patients suspected of LS.
  
  
  RESULTS
  We demonstrate that our assay is technically as easy to use as the pentaplex assay. The hexaplex panel shows similar performances for the identification of colorectal and non-MSH6-deficient tumours. On the other hand, the hexaplex panel has higher sensitivity for the identification of MSH6-deficient tumours (94.7% vs 84.2%) and MMR-deficient tumours other than colorectal cancer (92.9% vs 85.7%).
  
  
  CONCLUSIONS
  The hexaplex panel could thus be an attractive alternative to the pentaplex panel for the identification of patients with LS.
authors: Laboratory of Molecular Oncology and Genetics, Department of Biochemistry and Molecular Biology, University Hospital of Lille, Lille, France.
authors: A
authors: A
authors: Pagin
authors: F
authors: F
authors: Zerimech
authors: J
authors: J
authors: Leclerc
authors: A
authors: A
authors: Wacrenier
authors: S
authors: S
authors: Lejeune
authors: C
authors: C
authors: Descarpentries
authors: F
authors: F
authors: Escande
authors: N
authors: N
authors: Porchet
authors: M-P
authors: MP
authors: Buisine
mesh_terms: D000328:Adult; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics; D016022:Case-Control Studies; D053843:DNA Mismatch Repair / Q000235:genetics*; D049914:DNA Repair-Deficiency Disorders / Q000175:diagnosis / Q000235:genetics; D055088:Early Detection of Cancer / Q000379:methods*; D005260:Female; D005453:Fluorescence; D052138:Genes, Neoplasm; D006801:Humans; D053842:Microsatellite Instability; D018895:Microsatellite Repeats / Q000502:physiology; D008875:Middle Aged; D009369:Neoplasms / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: D014408:Biomarkers, Tumor
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