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    Testing strategies for Lynch syndrome in people with endometrial cancer

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    1 Recommendations

    1.1 Offer testing for Lynch syndrome to people who are diagnosed with endometrial cancer. Use these tests:

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

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

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

    1.2 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 should be done by a healthcare professional with appropriate training.

    1.3 Laboratories doing IHC for MMR proteins should take part in a recognised external quality assurance programme.

    Why the committee made these recommendations

    Lynch syndrome is an inherited condition that increases the risk of certain types of cancer, including endometrial and colorectal cancer. Testing for Lynch syndrome is recommended after a diagnosis of colorectal cancer. But endometrial cancer is often the first cancer that people with Lynch syndrome will have. So, Lynch syndrome could be identified earlier if tests were done after a diagnosis of endometrial cancer.

    If Lynch syndrome is diagnosed, treatment and surveillance can be offered to reduce the risk of having another Lynch syndrome-associated cancer (in particular colorectal cancer) or identify it earlier. Genetic testing for Lynch syndrome can also be offered to relatives with the aim of preventing Lynch syndrome-associated cancer developing or detecting it at an early stage.

    Several types of tests can be done in different orders and combinations to see if endometrial cancer is likely to have been caused by Lynch syndrome. 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 a person's non-tumour DNA should be done to confirm this.

    It is important that support and information are available for people deciding to be tested for Lynch syndrome.