Diagnosis

An estimated 175,000 people have Lynch Syndrome in the UK, but fewer than five per cent of individuals know they have the condition (Bowel Cancer UK).

Testing

Each year, 1,100 colorectal cancers and at least 260 endometrial cancers are caused by Lynch Syndrome, making it the most common form of hereditary colorectal cancer and most common form of hereditary endometrial cancer.

For this reason, the National Institute for Health and Care Excellence (NICE) has recommended that all people diagnosed with colorectal or endometrial cancer are tested for Lynch Syndrome. (NICE DG27 diagnostic pathway and NICE DG42).

Emma's story

Emma, from Canterbury, was diagnosed with Lynch syndrome just before her 30th birthday. 

Her diagnosis followed the discovery that her dad, who was receiving treatment for bowel cancer, had a fault in his PMS2 gene, which is one of the genetic changes that causes Lynch syndrome. 

As a hereditary condition, he was advised his children should also get tested.

After discussion with her parents, Emma decided she would like to know if she had the condition went to Guys Hospital in London. 

She spent time with a genetic counsellor talking about Lynch Syndrome and what it could mean for her, before deciding that she wanted go-ahead with the test.

Since finding out that she has Lynch Syndrome, Emma has had regular colonoscopies to check for early signs of bowel cancer. 

She's also become more aware of her lifestyle and how to look after herself. 

Emma said: “I feel very grateful that I know I am being regularly monitored. If I didn't know I had Lynch Syndrome, no-one would be keeping an eye on me.”

Patient representative

Emma has used her experience of being diagnosed with Lynch Syndrome to help other people.

She's actively involved with the Kent and Medway Cancer Alliance and is helping to make sure everyone in Kent who has either bowel or endometrial cancer gets screened for Lynch Syndrome.

Emma said: “I've really enjoyed the past two years as a patient rep. I've shared my experience with so many people, as I want professionals to think about the patient in front of them as well as their families.

“It's not just the person in front of them with the cancer diagnosis; by screening for Lynch Syndrome they could prevent future cancers in their patient and their families.”