Researchers Identify Mutation That May Serve as a Biomarker for Colorectal, Endometrial Cancers

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According to a new study published in the journal Nature Genetics, a new mutation has been identified in 20% of colorectal and endometrial cancers that may potentially serve as a biomarker for the diseases.

Researchers from Dana-Farber Cancer Institute in Boston, Massachusetts, and the Broad Institute of MIT and Harvard in Cambridge, Massachusetts, found that the RNF43 mutation is involved with the Wnt signaling pathway, a process that is known to cause numerous types of cancer.

For the study, researchers analyzed 185 colorectal cancer samples from The Cancer Genome Atlas (TCGA) project using whole-exome DNA sequencing. They found the RNF43 mutation is 18.9% of tumors. Surprised to find such a large percentage of RNF43 mutations, the researchers re-analyzed 222 colorectal tumor samples and found the mutation in 17.6% of samples.

Knowing that Wnt signaling has been implicated in endometrial cancer, the researchers then analyzed 248 endometrial cancer samples and found the mutation in 18.1% of tumors. The team also plans to analyze gastric tumor samples, where they expect to find similar results.

The researchers suggest that patients with the RNF43 mutation could benefit most from drugs that target the Wnt signaling pathway. To date, no drugs that target that pathway are available.

Endometrial cancer / Photo credit: Science Source
New mutation identified in colorectal and endometrial cancers that may potentially serve as a biomarker.

Scientists say they have identified in about 20 percent of colorectal and endometrial cancers a genetic mutation 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 two cancer types.

Reporting in the October 26, 2014 edition of 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 the RNF43 mutation 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 are currently available.


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