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Screening for Lynch Syndrome by Immunohistochemistry, BRAF Mutations Analysis, and MLH1 Promoter Methylation Analysis for Patients in Ontario with Colorectal or Endometrial Cancers

ID: MOAC 3 Sep 2015
Type of Content: Guidelines & Advice, Evidence Summary
Document Status: Current
Authors:
A. Pollett, J. Brown, M. Aronson, B. Clark, N. Baxter, E. Tomiak , Molecular Oncology Advisory Committee

Research Question(s)

  1. For patients with CRC or EC, what is the evidence for using IHC testing to identify a) tumours that are MSI-H and b) tumours that are LS?
  2. How does IHC testing compare with MSI testing for identifying the MMR deficiencies characterizing LS in CRC tumours and endometrial tumours?
  3. For tumours that show abnormal MLH1 protein expression by IHC:
    1. How effective is BRAF V600E testing at differentiating between sporadic versus LS-associated CRC?
    2. How effective is MLH1 promoter methylation testing at differentiating between sporadic versus LS-associated CRC and EC?
    3. How effective is a combination of BRAF V600E testing and MLH1 promoter methylation testing at differentiating between sporadic versus LS-associated CRC and EC?
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