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Genetic testing for Lynch syndrome help patients and clinicians fight cancer

In 2012 Alison was diagnosed with uterine cancer shortly after her sister had been diagnosed with the same condition.

After treatment Alison was given the all clear and six months later decided to get tested for Lynch syndrome.

Lynch syndrome is an inherited condition that increases the risk of certain types of cancer including colorectal and endometrial cancer. Historically it was known as hereditary nonpolyposis colorectal cancer (HNPCC). Each year, 1,100 colorectal cancers are caused by Lynch syndrome, making it the most common form of hereditary colorectal cancer.

Alison and her sister were both confirmed as having the condition.

When I was informed I had this inherited condition, which increases the risk of getting other cancers, it enabled me to inform relatives so that they could decide if they also wanted to get tested.


Alison added:

“My children can get tested for Lynch syndrome when they are 25 years old. Should they have the condition they can ensure they get the relevant screening so that any abnormal changes can be picked up before they turn into cancer.”

Alison was recently diagnosed with gastric cancer. However, knowing that she has Lynch syndrome, has meant that her clinician could predict that she would respond well to immunotherapy and is likely to have a long term benefit from this treatment.

Knowing whether patients have Lynch syndrome can help clinicians offer appropriate screening and offer the most effective treatment quickly which can save lives.

Dr Elizabeth Smyth, Consultant in Gastrointestinal Oncology and Clinical Lead for Cancer at East Genomics
Dr Elizabeth Smyth Dr Ruth Armstrong
Dr Elizabeth Smyth
Dr Elizabeth Smyth, Consultant in Gastrointestinal Oncology
Dr Ruth Armstrong
Dr Ruth Armstrong, Consultant in Clinical Genetics

When we know patients have Lynch syndrome, we can also offer a daily Aspirin and testing and treatment for a common stomach infection that can help reduce the risk of developing cancer.

Dr Ruth Armstrong, Consultant in Clinical Genetics

Information and helpful flowcharts (opens in a new tab) are available to support clinicians with the implementation of the Lynch Syndrome testing and surveillance pathways.

Contact details for your relevant laboratory and clinical genetics department can be found on the relevant web page of our website.