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Test everyone with bowel cancer for Lynch syndrome, NICE urges


Anyone diagnosed with bowel cancer should be tested for the inherited genetic condition Lynch syndrome, recommends the National Institute for Health and Care Excellence (NICE) in draft guidance issued today.  We have worked with NICE to develop these new guidelines.

Lynch syndrome is the most common cause of hereditary bowel cancer and those affected run an increased risk of developing womb, ovarian and stomach cancer, among others.

Lynch syndrome accounts for approximately 3.3% (1 in 30) of bowel tumours, and is estimated to lead to over 1,100 colorectal cancers a year in the UK. An estimated 175,000 people in the UK have the syndrome, a large proportion of whom will be unaware that they have it.

Microsatellite instability (MSI) testing or immunohistochemistry should be used to detect abnormalities that might indicate the presence of the syndrome, recommends NICE.

If the result indicates abnormalities, further tests should be carried out to confirm the diagnosis. Diagnosing Lynch syndrome may also help guide choice of treatment for bowel cancer says NICE.

Testing everyone with bowel cancer will increase detection of the syndrome and identify families who could benefit from genetic testing for the condition. This could lead to closer monitoring and consequently better outcomes through earlier diagnosis and treatment, says NICE.

“While these tests have been available for a while, the committee heard that there is currently wide variation in the provision of testing for Lynch syndrome and other inherited colorectal cancers,” commented Professor Carole Longson, director of the centre for health technology assessment at NICE.

People with the syndrome who develop bowel cancer generally do so between the ages of 40-50 or younger.

However, said Professor Longson: “It is estimated by Bowel Cancer UK that only 50% of centres provide tests to assess the risk of Lynch syndrome in people diagnosed with colorectal cancer under the age of 50.”

She added: “The committee concluded that using these tests to assess the risk of Lynch syndrome in all patients diagnosed with colorectal cancer could have substantial benefits for patients and their families.”

Deborah Alsina, Chief Executive, Bowel Cancer UK, agreed: “We hear every day how generations have been affected by cancer because of this genetic condition. By testing everyone diagnosed with colorectal cancer we can identify more people who have [it] and ensure they receive regular colonoscopy, which can reduce their chance of dying from bowel cancer by up to 72%.”

The consultation on the draft guidance runs until 11 November 2016.

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About kjmonahan

Service lead for Family History of Bowel Cancer Clinic

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