242 - Generation of a somatic mutations BRAF in melanoma database (www.somaticmutations-brafmelanoma.net)

Date 28 September 2012
Event ESMO Congress 2012
Session Publication Only
Topics Biomarkers
Melanoma and other Skin Tumours
Presenter Helena Linardou
Authors H. Linardou1, S. Murray2, F. Siannis3, D. Bafaloukos4
  • 1Medical Oncology, Metropolitan Hospital, 18547 - Athens/GR
  • 2Oncology, GeneKor SA, 15344 - Athens/GR
  • 3Department Of Mathematics, University of Athens, 15000 - Athens/GR
  • 41st Department Of Medical Oncology, Metropolitan Hospital, 18547 - Athens/GR



Somatic mutations of BRAF are correlated with improved outcomes in patients with melanoma treated with the anti-BRAF tyrosine kinase inhibitor Vemurafenib. The frequency and spectrum of these mutations is currently not well classified within melanoma or amongst melanocytic lesions. A systematic compendium of BRAF mutations in human tumors may better clarify issues related to incidence and spectrum.


Using a broad search string including “BRAF”, “RAS”, “Melanoma”, “Cancer” and associated synonyms we identified 3,879 abstracts from inception through to 23/12/2011 in MEDLINE (PubMed). Sub-searches for Melanoma or melanocytic lesions (naevi) identified 175 articles. Data extraction was conducted by two investigators. Fields included: incidence, melanoma subtype, AJCC stage, gender, sun exposure, site, Breslow status amongst others split by mutational status.


With a total of 14,019 screened patients, 5,606 were identified to harbor a mutation (40.0%). Cumulative data indicated that there were no significant differences according to gender (55.2% male, 57.8% female), ulceration (46.4% with, 44.6% without), stage (46.6% I, 52.7% IV), metastatic and primary cutaneous melanoma (39.7% vs 41.1%). Differences in incidence were seen between sun exposure (36.2% exposed, 44.8% non-), site [except ocular/ uveal] (10.5% mucosal, 44.6% other) and between benign and Spitz nevi (52.5% versus 5.5%).


This compendium of datasets allows the investigation of several trends in melanoma and melanocytic lesions. Technical and intra-inter-tumor dis-concordance issues were highlighted. A comprehensive analysis of clinicopathological correlations will be presented.


All authors have declared no conflicts of interest.