Exome-wide Sequencing Shows Low Mutation Rates and Identifies Novel Mutated Genes in Seminomas

摘要: Abstract Background Testicular germ cell tumors are the most common cancer diagnosed in young men, and seminomas type of these cancers. There have been no exome-wide examinations genes mutated or overall rates nonsilent somatic mutations tumors. Objective The objective was to analyze determine which affected mutations. Design, setting, participants Eight matched normal samples were surgically obtained from eight patients. Intervention DNA extracted tissue exome sequenced on massively parallel Illumina sequencers. Single-nucleotide polymorphism chip-based copy number analysis also performed assess alterations. Outcome measurements statistical sequencing read data analyzed detect including single-nucleotide substitutions short insertions deletions. detected validated by independent further checked for subclonality. Results limitations rate nonsynonymous averaged 0.31 mutations/Mb. We 96 that not previously known be seminomas, some may driver Many appear present subclonal populations. In addition, two genes, KIT KRAS , each with observed other cancers presumably oncogenic. Conclusions Our study, first report new several targetable drivers. Furthermore, our results show seminoma mutation five times higher than thought, but nevertheless low compared Similar seen excellent remission achieved chemotherapy. Patient summary examined sequences testicular cancer. study identified occurred during development, might contribute development progression. showed still lower solid-organ Such among that, like disease after