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SUMMARY:Whole-exome sequencing identifies recurrent functional mutations i
 n melanoma  - Yardena Samuels\, The Weizmann Institute of Science\, Israel
DTSTART:20140710T120000Z
DTEND:20140710T130000Z
UID:TALK48461@talks.cam.ac.uk
CONTACT:Kate Davenport
DESCRIPTION:Advances in high-throughput genomic technologies provide an un
 precedented opportunity to systematically interrogate the genetic landscap
 e of melanoma. As genomic sequences are increasingly becoming available th
 ey provide biologically and clinically relevant information on the complex
 ity of the melanoma genome. We have recently compiled sequence data from >
 500 melanoma genomes/exomes\, the largest melanoma dataset to date. We hav
 e validated recurrent alterations in ~500 cutaneous melanomas and have ide
 ntified almost 50 alterations that occur in five or more melanoma cases. W
 e thus have identified a large number of candidate driver genes which may 
 hold promise for the design of novel therapies to treat melanoma. Importan
 tly\, synonymous mutations\, which do not alter the protein sequence\, are
  rarely investigated in the cancer genomics field. Our analysis identified
  for the first time a recurrent functional synonymous somatic mutation in 
 BCL2L12 (F17F). Our data indicate that “silent” alterations have a rol
 e to play in human cancer\, emphasizing the importance of their investigat
 ion in future cancer genome studies.
LOCATION:Cancer Research UK Cambridge Research Institute\, Lecture Theatre
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