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Mutations of the BRAF gene in human cancer
TLDR
BRAF somatic missense mutations in 66% of malignant melanomas and at lower frequency in a wide range of human cancers, with a single substitution (V599E) accounting for 80%.
Signatures of mutational processes in human cancer
TLDR
It is shown that hypermutation localized to small genomic regions, ‘kataegis’, is found in many cancer types, and this results reveal the diversity of mutational processes underlying the development of cancer.
Systematic identification of genomic markers of drug sensitivity in cancer cells
TLDR
It was found that mutated cancer genes were associated with cellular response to most currently available cancer drugs, and systematic pharmacogenomic profiling in cancer cell lines provides a powerful biomarker discovery platform to guide rational cancer therapeutic strategies.
Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes
TLDR
The identification of inactivating mutations in two genes encoding enzymes involved in histone modification and NF2 mutations were found in non-VHL mutated ccRCC, and several other probable cancer genes were identified, indicating that substantial genetic heterogeneity exists in a cancer type dominated by mutations in a single gene.
Patterns of somatic mutation in human cancer genomes
TLDR
More than 1,000 somatic mutations found in 274 megabases of DNA corresponding to the coding exons of 518 protein kinase genes in 210 diverse human cancers reveal the evolutionary diversity of cancers and implicates a larger repertoire of cancer genes than previously anticipated.
Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma
TLDR
The protein coding exome is sequenced in a series of primary ccRCC and the identification of the SWI/SNF chromatin remodelling complex gene PBRM1 is reported as a second majorccRCC cancer gene, with truncating mutations in 41% (92/227) of cases.
BRAF and RAS mutations in human lung cancer and melanoma.
TLDR
Three BRAF mutations identified in this study are novel, altering residues important in AKT-mediated BRAF phosphorylation and suggesting that disruption ofAKT-induced BRAF inhibition can play a role in malignant transformation, first report of mutations documenting this interaction in human cancers.
A small-cell lung cancer genome with complex signatures of tobacco exposure
TLDR
Using massively parallel sequencing technology, a small-cell lung cancer cell line, NCI-H209, is sequenced to explore the mutational burden associated with tobacco smoking and identifies a tandem duplication that duplicates exons 3–8 of CHD7 in frame, and another two lines carrying PVT1–CHD7 fusion genes, indicating that ChD7 may be recurrently rearranged in this disease.
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