NICE Guidance on Testing for Lynch Syndrome in People with Endometrial Cancer

Dawn O'Shea

June 26, 2020

NICE has published draft recommendations on testing for Lynch syndrome in people with endometrial cancer.

The draft guidance recommends testing for Lynch syndrome in people with endometrial cancer. The following tests are recommended:

  • Immunohistochemistry (IHC) testing to identify tumours with mismatch repair (MMR) deficiency.

  • MLH1 promoter hypermethylation testing of tumour DNA, if IHC is positive.

  • If MLH1 promoter hypermethylation test is negative, confirm Lynch syndrome by genetic testing of germline DNA.

Genetic testing can also be offered to relatives with the aim of preventing Lynch syndrome-associated cancer developing or detecting it at an early stage. Discussions about genetic testing should be done by a healthcare professional with appropriate training.

While testing for Lynch syndrome is recommended after a diagnosis of colorectal cancer, endometrial cancer is often the first cancer that people with Lynch syndrome develop. NICE says Lynch syndrome could be identified earlier if tests were done after a diagnosis of endometrial cancer.

Economic modelling has shown that IHC testing then MLH1 promoter testing is likely to be the most cost-effective approach. If it looks like a person may have Lynch syndrome after both tumour tests have been done, genetic testing of non-tumour DNA should be done to confirm this.

The draft recommendations are open for consultation until 13 July.

This article originally appeared on Univadis, part of the Medscape Professional Network.

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