Gene mutations linked to spread of colorectal cancer

Test could identify colorectal cancer patients with most to gain from chemotherapy.



A team of researchers from Uppsala University in Sweden have identified a genetic mutation that is associated with metastases in colorectal cancer. The finding could lead to tests that identify patients at risk of the cancer spreading who would benefit from chemotherapy. 

Although much is known about the role of gene mutations in causing cancer, little is known about their role in its spread.   

“Unnecessary therapy, with severe side effects, could potentially be avoided for patients with a lower risk of metastases, whereas patients with a higher risk can receive adjuvant therapies that can improve their chances of survival,” says Lucy Mathot from Uppsala University’s department of immunology, genetics and pathology. 

The research team analysed tumour samples from colorectal cancer patients with and without metastases. They discovered that a group of genes was predominantly mutated in patients with metastatic cancer.  

This family of genes, known as ephrin receptor genes, control a number of processes including tissue formation, and the development of the nervous system in embryos.  

“In adults, these genes are responsible for regulating how cells are positioned in the intestine to ensure the correct formation of the structures that help to digest and absorb nutrients,” explains Mathot. 

The researchers discovered that intestinal cells in patients with mutated genes were no longer able to correctly align, and their growth became disorganised.  

“This could help explain why cancer cells with these mutations can more easily spread to other organs, as they are no longer restricted by correct cell positioning,” says Mathot. 

The team’s next phase of research will involve a larger scale evaluation of mutations found in the ephrin receptor family of genes using data produced by other sequencing efforts. 


  1.  Mahot, L., Kundu, S., Ljungstrom, V. Somatic ephrin receptor mutations are associated with metastasis in primary colorectal cancer. Cancer Research 77:1730-1740 (2017)| article

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