期刊
NATURE GENETICS
卷 44, 期 2, 页码 133-139出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.1026
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资金
- Ludwig Institute for Cancer Research
- Hilton-Ludwig Cancer Metastasis Initiative
- Conrad N. Hilton Foundation
- Swiss National Science Foundation (SNF) National Centres of Competence in Research (NCCR) Frontiers in Genetics
- European Research Council
We performed exome sequencing to detect somatic mutations in protein-coding regions in seven melanoma cell lines and donor-matched germline cells. All melanoma samples had high numbers of somatic mutations, which showed the hallmark of UV-induced DNA repair. Such a hallmark was absent in tumor sample specific mutations in two metastases derived from the same individual. Two melanomas with non-canonical BRAF mutations harbored gain-of-function MAP2K1 and MAP2K2 (MEK1 and MEK2, respectively) mutations, resulting in constitutive ERK phosphorylation and higher resistance to MEK inhibitors. Screening a larger cohort of individuals with melanoma revealed the presence of recurring somatic MAP2K1 and MAP2K2 mutations, which occurred at an overall frequency of 8%. Furthermore, missense and nonsense somatic mutations were frequently found in three candidate melanoma genes, FAT4, LRP1B and DSC1.
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