2012
DOI: 10.1038/nature11252
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Abstract: Summary To characterize somatic alterations in colorectal carcinoma (CRC), we conducted genome-scale analysis of 276 samples, analyzing exome sequence, DNA copy number, promoter methylation, mRNA and microRNA expression. A subset (97) underwent low-depth-of-coverage whole-genome sequencing. 16% of CRC have hypermutation, three quarters of which have the expected high microsatellite instability (MSI), usually with hypermethylation and MLH1 silencing, but one quarter has somatic mismatch repair gene mutations. E… Show more

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Cited by 6,938 publications
(5,070 citation statements)
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References 44 publications
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“…The high mutation frequency is consistent with observations of other groups 19. One hundred and twenty‐one genes were found to be mutated in both of the MSI tumors in this study.…”
Section: Discussionsupporting
confidence: 93%
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“…The high mutation frequency is consistent with observations of other groups 19. One hundred and twenty‐one genes were found to be mutated in both of the MSI tumors in this study.…”
Section: Discussionsupporting
confidence: 93%
“…With the exception of OBSCN, this finding is consistent with the colon carcinoma sequencing results from The Cancer Genome Atlas Network (TCGA) 19. In addition, they saw less frequently mutated FBXW7 (11%), SMAD4 (10%), TCF7L2 (9%) and NRAS (9%).…”
Section: Discussionsupporting
confidence: 82%
“…Captured material was indexed and sequenced on the Illumina platform at the Wellcome Trust Sanger Institute. Targeted capture sequencing was performed using baits designed against the genes APC , WTX/FAM123B , ATRNL1 , BCL9L , BRCA1 , BRCA2 , CXCR5 , DMD , FBXW7 , GPR112 , HUWE1 , KMT2C/MLL3 , NF1 , PTEN , SLFN5 , SMAD4 , SORCS1 , TP53 , UBR2 and ZNF37A , selected for sequencing on the basis of being recurrently mutated, or truncated, in the unfiltered whole‐exome sequencing data; these genes are also enriched for non‐silent mutations in the genome sequencing of sporadic CRC 9. A breakdown of the sequencing metrics for each sample is provided in Figure S1 (see supplementary material).…”
Section: Methodsmentioning
confidence: 99%
“…As a corollary, the multiplicity of tumours in patients with germline mutations in these genes differ and clinical outcomes and responses to therapy can vary, suggesting a complex interplay between the germline genetics of each patient and the somatic landscape of adenomas and tumours that develop within the bowel 8. Despite major initiatives to analyse sporadic colorectal cancers 9, little is known about the somatic landscape of tumours from patients with hereditary forms of the disease. Here we set out to profile somatic mutations in pre‐malignant adenomas in two hereditary colon cancer syndromes, FAP and MAP.…”
Section: Introductionmentioning
confidence: 99%
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