Benefits of testing for inherited Colon Cancer may be worth the cost


A new study, reported by Reuters Health, has stated that the screening of tumours from all colon cancer patients could be a cost-effective way of spotting families at high genetic risk of the disease.

Approximately 3% of patients diagnosed with colon cancer each year have Lynch syndrome, which involves abnormalities in genes that help repair damage to DNA. A person with Lynch syndrome has an 80% chance of developing colon cancer, often before the age of 50. Lynch syndrome also carries higher-than-normal risks of endometrial cancer and malignancies in several other organs, including the ovaries, stomach, liver and kidney.

Dr Uri Ladabaum, the lead researcher for this new study, states that currently families affected by Lynch syndrome are most often identified through ‘clinical suspicion’. The difficulty with this approach is that it can of course lead to many affected families being missed or slipping out of the clinical spotlight.

However, a more systematic option would be to screen all colon cancer tumours for abnormalities linked to Lynch syndrome. If a tumour tests positive, patients can then go on to have blood tests that detect Lynch gene mutations. A similar set of tests can also be offered to the patient’s family members. If they also have Lynch syndrome, steps can be taken to catch the cancer early, or possibly even prevent it.

These patients could for example have very frequent colonoscopies.