Melanoma Exome Sequencing
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This study reports on the whole-exome sequencing (WES) of 213 patient-derived melanoma samples, including matched normal DNA for 133 of the tumors. The goal is the elucidation of the genetic basis of sun-exposed melanoma. Specimens were collected by the Tissue Resource Core of the Yale SPORE in Skin Cancer with participants informed signed consent according to Health Insurance Portability and Accountability Act (HIPAA) regulations with a Human Investigative Committee protocol. The melanomas used for sequencing were from snap-frozen tumors or from short-term cell cultures. The cell cultures were routinely checked for mycoplasma contamination and were discarded when found positive. Matching normal DNA was from circulating lymphocytes or normal skin. Sequence capture was performed using SeqCap EZ Human Exome Library v1.0 and 2.0, and sequencing was performed using Illumina Genome Analyzer (GA) IIx and HiSeq 2000. Comprehensive bioinformatics analysis and functional validation revealed the prominent role of NF1 and RASopathy gene mutations in melanoma.