Comprehensive genomic survey of colorectal cancer published

Sources: Nature, Cancer Genome Atlas press release

The Cancer Genome Atlas project has reported findings from its genome-wide characterisation of colorectal cancer.

The work is some of the most comprehensive of its kind so far, combining analyses of gene sequence data, expression levels, methylation patterns and copy number variation in 224 paired tumour and healthy tissue samples, along with whole genome sequencing of 97 of the pairs.

They found that 16% of tumours exhibit hypermutation, in which the rate of mutation is excessive because normal DNA repair mechanisms have broken down, and that the remainder showed a surprisingly consistent pattern of changes with 24 genes being regularly affected. Most strikingly, 94% of tumours had a mutation in at least one element of the Wnt signalling pathway.

Their analysis indicates that the pattern of mutations in colon and rectal tumours is the same regardless of anatomic location or origin, leading them to conclude that the two cancers can be considered as one.

The results suggest several biomarkers and therapeutic targets for colorectal cancer that may help focus drug development. Two genes already known to be involved in cell proliferation - ERBB2 and IGF2 ? were found to be regularly over-expressed and were flagged as strong potential targets. The work also implicated three new genes in the disease. Director of the US National Institutes of Health, Francis Collins, said of the findings "The data and knowledge gained here have the potential to change the way we diagnose and treat certain cancers".

Cancer Genome Atlas is a joint effort by US bodies the National Cancer Institute and the National Human Genome Research Institute to understand the molecular basis of cancer through comprehensive and coordinated genome analysis. This work is the latest part of the consortium?s ambitious plan to produce an atlas for over twenty human cancers with the aim of stimulating breakthroughs in understanding, treatment and prevention. The previous mapping completed by the project was for the ovarian cancer genome (see earlier news).

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Source: http://www.phgfoundation.org/news/12178/

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