Referral to the East Anglian Clinical Genetics Service

Why have I been given this information sheet?

You have been given this information sheet because of your recent bowel tumour test results. Routine tests on your tumour sample suggest that you may have a genetic (hereditary) cause for your bowel cancer, called Lynch syndrome. These are preliminary screening tests which need further investigation. You have now been referred to our Clinical Genetics service and we will guide you through the process, details of which are in this information sheet.

What is Lynch syndrome?

Lynch syndrome mainly increases the risk of bowel cancer, but may also increase the risk of womb cancer in women. Other cancers such as ovary, stomach, pancreas, kidney and urinary tract can occur slightly more often in people with Lynch syndrome. The risk of these other types of cancer is not as high as for bowel cancer.

Lynch syndrome is a condition that runs in families. This means it can be passed on from a parent to a child. When a person is diagnosed with Lynch syndrome, there is a 50% chance that their close relatives have the condition. The local genetics service can provide a cancer risk assessment and screening advice to relatives after genetic testing in a person with cancer is complete. They will also give advice about how to minimise the risk of cancer in families with Lynch syndrome, if this is confirmed.

What happens now?

Your bowel cancer team has referred you to our East Anglian Clinical Genetics service and we will arrange a genetics clinic appointment for you. Before your appointment, we will send you a family history form to complete and return to us, as this information helps in our assessment. At your genetics clinic appointment, you will meet a genetic counsellor or doctor who will discuss your questions/ concerns and offer you genetic testing for Lynch syndrome. This type of genetic test is carried out on a blood sample to look for an alteration (a mutation) in one of the genes that can cause Lynch syndrome. Genetic testing for Lynch syndrome involves looking at one or more of the genes called MLH1, MSH2, MSH6 and PMS2.

This test takes two to three months to complete and your genetic counsellor or doctor will write to you with any results. If a mutation is found in one of these genes and we are convinced that it is the cause of your cancer, we will inform your bowel cancer team and will also be able to offer Lynch syndrome genetic testing to your relatives.

Further information

If you would like further information on Lynch syndrome, you might find the Lynch Syndrome UK website useful: Lynch Syndrome UK Website (opens in a new tab)

Prior to your appointment in our genetics clinic, if you would like to speak to a member of our clinical genetics team, please telephone 01223 216446 and ask for the on-call genetic counsellor.