Researchers at the Queensland Institute of Medical Research have discovered a gene mutation responsible for an inherited form of bowel cancer, Lynch syndrome.
Dr Daniel Buchanan, from QIMR’s Cancer and Population Studies Group, said the finding would make it easier to identify people at a higher risk of bowel cancer, who should closely monitor their health and take preventative measures for a range of cancers.
Lynch syndrome is an inherited form of bowel cancer responsible for up to 5% of cases of the disease.
Dr Buchanan said the QIMR findings had enormous implications for relatives of people with Lynch syndrome.
“Identifying a mutation in one family member means we can identify, through a blood test, other family members who also carry the mutation.
“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.
“QIMR research is focussed on identifying people who are at high risk of developing cancer, before they get it,” Dr Buchanan said.
Dr Buchanan said, up until now, scientists hadn’t been able to find the gene mutation – or ‘mistake’ in a gene’s DNA 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.
“It really highlights the importance of analysing DNA sequences more extensively, to find the mutations that may be missed with the current approach,” Dr Buchanan said
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).