Abstract：
:Although a few cancer genes are mutated in a high proportion of tumours of a given type (>20%), most are mutated at intermediate frequencies (2-20%). 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.
journal_name
Naturejournal_title
Natureauthors
Lawrence MS,Stojanov P,Mermel CH,Robinson JT,Garraway LA,Golub TR,Meyerson M,Gabriel SB,Lander ES,Getz Gdoi
10.1038/nature12912subject
Has Abstractpub_date
2014-01-23 00:00:00pages
495-501issue
7484eissn
0028-0836issn
1476-4687pii
nature12912journal_volume
505pub_type
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