US scientists home in on new bowel cancer gene

In collaboration with Adfero

Scientists have identified a region of DNA that appears to be involved in the development of pre-cancerous bowel growths (polyps) and that may contain a gene involved in the progression of bowel cancer.

A research team at the University of Utah made the discovery while analysing the DNA of 81 people from five generations of a single family with an unusually high incidence of bowel cancer.

None of the family members had any previously known genetic faults linked to bowel cancer, suggesting that a different genetic factor was likely to be involved.

Three of the family members had been diagnosed with bowel cancer (including two with advanced disease), while nine other family members and two spouses had bowel polyps.

Researchers identified a stretch of DNA on chromosome 13 (13q) that appears to be significantly associated with the incidence of polyps and bowel cancer.

The finding, which is published in the Journal of Medical Genetics, suggests that this region of DNA may contain a gene that plays a key role in the progression and spread of bowel cancer.

The study authors noted that chromosome 13q is often overactive or duplicated in between 30 and 50 per cent of bowel cancers, lending more weight to the idea that it is an important genetic region.

"Identification of the precise gene and causative genetic change in this (family) will be an important next step," they said.

"If this gene is also involved in sporadic cancer progression and metastasis, there may be opportunities for management of the molecular process through prevention or treatment interventions."

Henry Scowcroft, Cancer Research UK's information manager, said: "Research into the genetic faults that underpin cancer - and how they affect the disease's progress - is proceeding at a rapid pace. This finding is a small piece in a bigger jigsaw puzzle, but adds to global research efforts that will ultimately benefit people with bowel cancer."


  • Neklason, D. et al (2010). Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer Hereditary Cancer in Clinical Practice, 8 (Suppl 1) DOI: 10.1186/1897-4287-8-S1-O4