What is Lynch Syndrome?

Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC) is an inherited condition that runs in families and increases the risk of developing bowel cancer as well as other cancers. It is the most common cause of hereditary bowel cancers and accounts for between 2-3% of all bowel cancers. Up to 75 percent of people with Lynch syndrome will develop bowel cancer at some point in their lives and the average age of developing bowel cancer is younger than in the general population (below 50).

What causes Lynch syndrome?

Lynch syndrome is caused by a genetic mutation if a person inherits an altered (mutated) copy of the genes MLHL1, MSH2, MSH6, PMS2 or EPCAM,  they are at higher risk of developing cancer.

GeneHealth UK is able to offer genetic testing for the genes that cause Lynch Syndrome and other genes related to bowel cancer.

Indications that someone may have Lynch syndrome:

• Bowel cancer diagnosed before the age of 50
• Bowel cancer that has screened positive for Lynch Syndrome
• Several relatives with bowel cancer
• Relatives with bowel cancer and related cancers (such as womb or ovarian cancer)
• Multiple generations with cancer

Tumour testing

It has now been recommended that all bowel cancer should be screened for Lynch syndrome by performing tumour testing.  Tumour testing involves performing immunohistochemistry (IHC) and/or microsatellite instability (MSI) to see if the cancer may have been caused by Lynch syndrome. If tumour testing screens positive, then further testing on a blood sample is recommended.

Other cancers that are more common in Lynch syndrome:

Womb, stomach, ovarian, pancreatic and prostate.

Reducing risk and early detection

Diagnosing Lynch syndrome early is important as it may alter the type of surgery and/or chemotherapy needed. Identifying Lynch syndrome allows for cancer screening from an earlier age and, in some cases, surgery or medication can help reduce the risk of developing cancers associated with this condition. As with all cancers, early detection saves lives.

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