"To explore the feasibility of creating a comprehensive catalogue of
cancer genes, we analysed somatic point mutations in exome sequences
from 4,742 human cancers and their matched normal-tissue samples across
21 cancer types. We found that large-scale genomic analysis can identify
nearly all known cancer genes in these tumour types. Our analysis also
identified 33 genes that were not previously known to be significantly
mutated in cancer, including genes related to proliferation, apoptosis,
genome stability, chromatin regulation, immune evasion, RNA processing
and protein homeostasis. Down-sampling analysis indicates that larger
sample sizes will reveal many more genes mutated at clinically important
frequencies. We estimate that near-saturation may be achieved with
600–5,000 samples per tumour type, depending on background mutation
frequency. The results may help to guide the next stage of cancer
genomics."
Discovery and saturation analysis of cancer genes across 21 tumour types
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