title: BRAF mutations in non-small cell lung cancer.
abstract: BACKGROUND
  BRAF is a proto-oncogene encoding a serine/threonine protein kinase which promotes cell proliferation and survival. BRAF mutations are commonly seen in melanoma and papillary thyroid carcinoma. We aimed to investigate the prevalence and clinicopathological features of BRAF mutations in non-small cell lung cancer (NSCLC) cases submitted for routine mutation testing at our institution.
  
  
  METHODS
  Mutation analysis for BRAF, EGFR and KRAS was performed using Sequenom MassARRAY platform with OncoCarta panel v1.0. Pathological features were reviewed and immunohistochemistry for BRAF V600E was also performed.
  
  
  RESULTS
  Seven out of 273 cases (2.6%) had BRAF mutations (three males and four females, median age 70 years, all smokers), with six adenocarcinomas and one NSCLC, not otherwise specified (NOS). All had wild-type EGFR and KRAS. The identified BRAF mutations were V600E (4/7, 58%), K601N, L597Q and G469V. BRAF V600E immunohistochemistry was positive in two cases with V600E and negative in one case with K601N (tissue available in three cases only). No significant difference in age or gender was found (BRAF mutant vs. wild-type).
  
  
  CONCLUSIONS
  BRAF mutations occur in a small proportion of NSCLC that lack other driver mutations. The clinicopathological profile differs from that of EGFR mutant tumours. The potential benefits of BRAF-inhibitors should be investigated.
authors: 1 Department of Tissue Pathology and Diagnostic Oncology, 2 Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, Australia ; 3 Sydney Medical School, University of Sydney, Sydney, Australia ; 4 Lifehouse Cancer Centre, The Chris O'Brien Lifehouse, Sydney, Australia ; 5 Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia ; 6 School of Medicine, University of Western Sydney, Sydney, NSW, Australia.
authors: Peter P
authors: PP
authors: Luk
authors: 1 Department of Tissue Pathology and Diagnostic Oncology, 2 Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, Australia ; 3 Sydney Medical School, University of Sydney, Sydney, Australia ; 4 Lifehouse Cancer Centre, The Chris O'Brien Lifehouse, Sydney, Australia ; 5 Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia ; 6 School of Medicine, University of Western Sydney, Sydney, NSW, Australia.
authors: Bing
authors: B
authors: Yu
authors: 1 Department of Tissue Pathology and Diagnostic Oncology, 2 Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, Australia ; 3 Sydney Medical School, University of Sydney, Sydney, Australia ; 4 Lifehouse Cancer Centre, The Chris O'Brien Lifehouse, Sydney, Australia ; 5 Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia ; 6 School of Medicine, University of Western Sydney, Sydney, NSW, Australia.
authors: Chiu Chin
authors: CC
authors: Ng
authors: 1 Department of Tissue Pathology and Diagnostic Oncology, 2 Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, Australia ; 3 Sydney Medical School, University of Sydney, Sydney, Australia ; 4 Lifehouse Cancer Centre, The Chris O'Brien Lifehouse, Sydney, Australia ; 5 Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia ; 6 School of Medicine, University of Western Sydney, Sydney, NSW, Australia.
authors: Belinda
authors: B
authors: Mercorella
authors: 1 Department of Tissue Pathology and Diagnostic Oncology, 2 Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, Australia ; 3 Sydney Medical School, University of Sydney, Sydney, Australia ; 4 Lifehouse Cancer Centre, The Chris O'Brien Lifehouse, Sydney, Australia ; 5 Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia ; 6 School of Medicine, University of Western Sydney, Sydney, NSW, Australia.
authors: Christina
authors: C
authors: Selinger
authors: 1 Department of Tissue Pathology and Diagnostic Oncology, 2 Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, Australia ; 3 Sydney Medical School, University of Sydney, Sydney, Australia ; 4 Lifehouse Cancer Centre, The Chris O'Brien Lifehouse, Sydney, Australia ; 5 Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia ; 6 School of Medicine, University of Western Sydney, Sydney, NSW, Australia.
authors: Trina
authors: T
authors: Lum
authors: 1 Department of Tissue Pathology and Diagnostic Oncology, 2 Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, Australia ; 3 Sydney Medical School, University of Sydney, Sydney, Australia ; 4 Lifehouse Cancer Centre, The Chris O'Brien Lifehouse, Sydney, Australia ; 5 Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia ; 6 School of Medicine, University of Western Sydney, Sydney, NSW, Australia.
authors: Steven
authors: S
authors: Kao
authors: 1 Department of Tissue Pathology and Diagnostic Oncology, 2 Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, Australia ; 3 Sydney Medical School, University of Sydney, Sydney, Australia ; 4 Lifehouse Cancer Centre, The Chris O'Brien Lifehouse, Sydney, Australia ; 5 Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia ; 6 School of Medicine, University of Western Sydney, Sydney, NSW, Australia.
authors: Sandra A
authors: SA
authors: O'Toole
authors: 1 Department of Tissue Pathology and Diagnostic Oncology, 2 Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, Australia ; 3 Sydney Medical School, University of Sydney, Sydney, Australia ; 4 Lifehouse Cancer Centre, The Chris O'Brien Lifehouse, Sydney, Australia ; 5 Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia ; 6 School of Medicine, University of Western Sydney, Sydney, NSW, Australia.
authors: Wendy A
authors: WA
authors: Cooper
keywords: BRAF mutation; Lung cancer; genetic testing