Molecular testing strategies for Lynch syndrome in people with colorectal cancer

NICE has assessed molecular testing strategies that use immunohistochemistry (IHC) and microsatellite instability testing (MSI) to guide further testing to diagnose Lynch syndrome in people with colorectal cancer.

Lynch syndrome is an inherited condition caused by changes in some genes. People with Lynch syndrome have a higher risk of developing certain cancers, including colorectal cancer. There are ways to reduce the risks for some of these cancers, so it is important to know if people have the syndrome.

NICE has recommended that when a person is first diagnosed in the NHS as having colorectal cancer, either an IHC or MSI test is routinely offered to check their tumour for changes that may mean they have Lynch syndrome. If changes are found, they will be offered further tests to confirm whether they have Lynch syndrome. If they do, they can be monitored for other cancers and their close relatives can also be offered testing for Lynch syndrome.

ISBN: 978-1-4731-2341-0