Memorandum
To: All Medical Staff
From: Harry S. Cooper, M.D., Director of Clinical Laboratories and Andrew K. Godwin, Ph.D., Director of Clinical Molecular Genetic Laboratory
Date: July 11, 2008
Subject: BRAF V600E mutational analysis
The Clinical Molecular Genetics Laboratory (CMGL) (W232, x4785, Betsy Bove, Ph.D., laboratory manager) Department of Pathology, is pleased to add to their menu of clinical molecular tests the analysis of mutation for BRAF (V600E). The test is performed on DNA extracted from formalin fixed paraffin embedded tissue blocks.
BRAF is a kinase encoding gene for the RAS/RAF/MARK pathway and has been identified to be mutated in a wide variety of human cancers, including melanomas, sporadic colorectal carcinomas (CRC) and thyroid carcinomas. In sporadic microsatellite unstable (MSI–H) CRC, a specific BRAF mutation (V600E) is found in 31-45% of the cases analyzed. To date, this BRAF (V600E) mutation has not been found in MSI-H hereditary non polyposis (HNPCC) colorectal cancers. These findings make BRAF (V600E) testing important in the algorithm in separating sporadic MSI-H CRC vs MSI-H CRC due to HNPCC. In those patients with MSI-H CRC lacking expression of MLH1, the presence of a BRAF (V600E) mutation indicates sporadic MSI-H (via methylation) ruling out HNPCC and circumventing the need for germline testing. Those patients with MSI-H CRC that lack MSH-2 and/or MSH6 expression or with Amsterdam criteria should proceed directly to germline mutational testing.
Orders for BRAF V600E mutational analysis can be submitted either through the online appointment slip or by filling out a CMGL requisition available in clinic areas.
We are pleased to add BRAF V600E mutational analysis testing to our present menu of clinical molecular tests:
• microsatellite instability testing (MSI)
• epidermal growth factor receptor testing (EGFR, exons 18-21)
• paraffin embedded block BRCA1/2 AJ founder alteration testing
• BRCA1/2 AJ founder and site specific testing
• UGT1A1*28
• C-KIT/PDGFRa (exons 9, 11, 13, 17/exons 12, 18)
• KRAS (codons 12 and 13)
cc Michael Seiden, M.D, Ph.D
Robert Ozols, M.D., Ph.D
J.Robert Beck, M.D.
Betsy Bove, Ph.D
Arthur S. Patchefsky, M.
Lucinda Kalnick-Loose
Dorothy Riehs
John J. Gricoski
Robert E. Spallone
Lisa Emgushov
http://www.fccc.edu/docs/research/facilities/clinical/clinicalMolecularGeneticsLab/BRAFannouncement.doc
BRAF V600E mutational analysis
Jimmy B
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