Jul 31, 2013

BRAF V600E mutation analysis simplifies the testing algorithm for Lynch syndrome

American Journal of Clinical Pathology
Ming JinWendy L Frankel


To evaluate our experience of adding reflex BRAF mutation analysis following mismatch repair (MMR) protein staining in the test algorithm for Lynch syndrome (LS), the most common inherited predisposition to colorectal cancer (CRC). Since January 1, 2009, BRAF V600E mutation analysis has been performed at our institution for all newly diagnosed CRCs with absent MLH1 and PMS2 proteins. Ninety (22%) of 412 patients with CRC had at least 1 MMR absent (65 had MLH1 and PMS2 absent and 25 had other stain(s) absent). BRAF mutation was found in 36 (55%) of 65. Fifty-four (13%) of 412 patients required follow-up after addition of BRAF analysis compared with 90 who would have required follow-up without BRAF analysis. The addition of reflex BRAF mutation testing in CRCs with absent MLH1 and PMS2 reduced the number of patient contacts by 40% and simplified the genetic testing for LS, leading to cost and time savings.

  • References49
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Mentioned in this Paper

BRAF protein, human
Mismatch Repair
Genetic Screening Method
BRAF V600E Mutation Analysis
Replication Error Phenotype
Colorectal Neoplasms
PMS2 gene
DNA Mismatch Repair Protein PMS2
Colorectal Cancer Pathway
MLH1 gene

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