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 Skin cancers
Translational Research
Basic Principles in the Management and Treatment (of cancer)
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.