NICE: test people with endometrial cancer for Lynch syndrome

  • National Institute for Health and Care Excellence

  • curated by Dawn O'Shea
  • UK Medical News
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People with endometrial cancer should be tested for the inherited genetic condition Lynch syndrome, NICE has said in new diagnostic guidance on testing strategies for Lynch syndrome.

The guidance recommends that testing be offer to people with endometrial cancer. Immunohistochemistry (IHC) should be used to identify tumours with mismatch repair (MMR) deficiency. If IHC is abnormal with loss of MLH1, or loss of both MLH1 and PMS2 protein expression, MLH1 promoter hypermethylation testing of tumour DNA is advised. If MLH1 promoter hypermethylation is not detected, offer germline genetic testing to confirm Lynch syndrome.

NICE advises that healthcare professionals should inform people about the possible implications of test results for both themselves and their relatives, and give support and information. Discussion of genetic testing and obtaining consent should be done by a healthcare professional with appropriate training.

NICE already recommends that anyone diagnosed with bowel cancer is tested for Lynch syndrome. If positive, relatives can also be tested and, if necessary, be enrolled in bowel cancer surveillance.

It is estimated that up to 1,000 people with Lynch syndrome could be identified each year if this new guidance is followed in the NHS. An estimated 175,000 people in the UK have Lynch syndrome, a large proportion of whom will be unaware that they have the condition.

Access the full guidelines here.