The gene mutation in RNF43, previously missed in The Cancer Genome Atlas study, was identified in 20% of colorectal and endometrial cancers.
Scientists have identified a genetic mutation in about 20% of colorectal and endometrial cancers that had been overlooked in recent large, comprehensive gene searches. With this discovery, the altered gene, called RNF43, now ranks as one of the most common mutations in the 2 cancer types.
Reporting in Nature Genetics, investigators from Dana-Farber Cancer Institute and the Broad Institute of MIT and Harvard said the mutated gene helps control an important cell-signaling pathway, Wnt, that has been implicated in many forms of cancer. They suggest that having a mutation in RNF43 may serve as a biomarker that identifies patients with colorectal and endometrial cancer who could benefit from precision cancer drugs that target the Wnt pathway, although no such drugs have yet been approved.