Scientists have identified new gene mutations that may be tied to colorectal cancer (CRC). The study was published online in Nature Communications.

The findings are from an analysis of genes from 1,006 patients with CRC. The study authors also concluded that all the major genes that significantly increase the risk of CRC have been identified.

The team noted that mutations in the known CRC genes account for only about a third of familial CRC cases. “From the clinical perspective, gene testing should not detract from the value of a detailed family history to inform screening requirements in patients and families,” the authors write.

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“The research closes one chapter in the study of bowel cancer, by concluding that all the major risk genes have now been found,” study leader Richard Houlston, M.D., Ph.D., a professor of molecular and population genetics at the Institute of Cancer Research in London, said in an institute news release.

“But, it opens another by underlining the importance of tracking down the many missing genetic variations which each have a very small effect alone, but together make the biggest impact on inherited risk.”


  1. Chubb D, Broderick P, Dobbins SE, et al. Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. [published online ahead of print June 22, 2016.] Nature Communications. doi:10.1038/ncomms11883.