title: BRAF V600E mutation analysis simplifies the testing algorithm for Lynch syndrome.
abstract: OBJECTIVE
  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).
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pathology, Ohio State University Wexner Medical Center, Columbus, OH 43210, USA.
authors.forename: Ming
authors.initials: M
authors.lastname: Jin
authors.forename: Heather
authors.initials: H
authors.lastname: Hampel
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Zhou
authors.forename: Lisa
authors.initials: L
authors.lastname: Schunemann
authors.forename: Martha
authors.initials: M
authors.lastname: Yearsley
authors.forename: Wendy L
authors.initials: WL
authors.lastname: Frankel
mesh_terms: D000328:Adult; D000465:Algorithms; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000235:genetics; D053843:DNA Mismatch Repair; D004252:DNA Mutational Analysis; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D053842:Microsatellite Instability; D009154:Mutation; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: BRAF mutation; Immunohistochemistry; Lynch syndrome; Microsatellite instability; Mismatch repair genes