Lynch syndrome is an inherited condition that increases the risk of certain types of cancer, including colorectal and endometrial cancer.
Lynch syndrome testing for people with colorectal cancer has been recommended since 2017 using Immunohistochemistry (IHC) or Microsatellite Instability (MSI) testing (Diagnostics Guidance (DG) 27). In October 2020, NICE also recommended testing for Lynch syndrome in people who are diagnosed with endometrial cancer using IHC (DG42).
Several types of tests can be done in different orders and combinations to see if either colorectal cancer or endometrial cancer are likely to have been caused by Lynch syndrome. The MLH1 promoter hypermethylation test is recommended at certain points of the tumour testing pathway.
If both IHC/MSI and MLH1 tests show that a person may have Lynch syndrome, genetic testing of a person's non-tumour DNA should be done to confirm this.
Preventative treatment and screening is available for the patient and at risk relatives.
National information and helpful flowcharts have been developed to support the implementation of the Lynch Syndrome testing and surveillance pathways.
East of England Cancer Alliance
The East of England Cancer Alliance web page contains useful information about Lynch Syndrome, together with information about testing and screening, action needed by cancer services, resources for health professionals (information for patients, standard operating procedures, management of the condition, implementing care pathways), as well as training videos and helpful websites.
Information is expected to be added to the East Midlands Cancer Alliance webpage soon, however the above information should be helpful to all healthcare professionals.
If you have any questions, please don’t hesitate to contact one of the team:
For East of England enquiries:
Regarding testing, email: email@example.com
For discussion of clinical cases please contact Dr Ruth Armstrong, Consultant in Clinical Genetics or Bev Speight, Principal Genetic Counsellor on add-tr.ClinicalGenetics@nhs.net
For East Midlands enquiries:
For tests at our Nottingham laboratory, contact:
To speak to the Clinical Genetics team in Leicester, please call: 0116 258 7565