Researchers have discovered a gene mutation responsible for an inherited form of bowel cancer, Lynch Syndrome. Lynch Syndrome is an inherited form of bowel cancer responsible for up to 5% of cases of the disease.
Colorectal (bowel) cancer is the second most common internal cancer in the developed world. It is usually preceded by polyps on the colon wall and Lynch Syndrome is one of several conditions that increases the risk of polyps and subsequent cancer.
The study used the Australasian Colorectal Cancer Family Registry, which has collected blood and tumour samples from Australian families where multiple members have bowel cancer, and was made possible by funding from the National Institutes of Health (NIH).
“Identifying a mutation in one family member means we can identify, through a blood test, other family members who also carry the mutation," said Dr. Daniel Buchanan, from the Queensland Institute of Medical Research Cancer and Population Studies Group. "We know that if you are shown to carry a mutation causing Lynch syndrome, important steps can be taken towards preventing the development of bowel cancer. You can be targeted for more intensive clinical management, and have colonoscopy screening more often.
Scientists hadn’t been able to find the gene mutation, which exists in about 20 per cent of patients suspected of having the syndrome. When the traditional DNA sequencing approach failed to find any mutations, the QIMR team persisted, trying alternative testing strategies, before successfully identifying the mutation, and the diagnosis of Lynch Syndrome.