Lynch Syndrome

We are providing a service that enables the detection of Lynch syndrome

About Lynch Syndrome

Lynch Syndrome (LS) is a condition which can run in families, and can mean your chance of developing certain cancers is higher. 

Lynch syndrome is the most common cause of hereditary colorectal cancer. People with Lynch syndrome are more likely to get colorectal cancer and other cancers, and at a younger age (before 50), including endometrial, stomach, liver, kidney, brain, and certain types of skin cancers.

Currently around 95% of people in the UK who have Lynch Syndrome have not been identified through testing and are therefore not able to enter monitoring or treatment.

Identifying patients who have LS means they can be monitored from a younger age meaning tumours could be caught sooner. If this happens, treatment would be more effective.

Lynch Syndrome affects approximately 1 in 350 people. It is estimated that around 200,000-300,000 people are likely to have this condition right now. However, only 5% of people with LS in the UK have been diagnosed.

What are we doing?

This project aims improve the early detection of cancer, and access to personalised care for people with Lynch syndrome.

We want to support the local NHS to deliver a comprehensive service for patients for the detection of Lynch Syndrome. We are doing this by embedding standardised and equitable Lynch testing pathways for colorectal and endometrial cancer across the geographic region by applying best practice learned from major centres to all providers in the region.

We are also monitoring and addressing geographical variation in testing, supporting the development of the infrastructure needed for testing and expanding pilot testing and assessing the benefits for patients.

Why is this important?

The NHS has a clear ambition to prevent cancer wherever possible.

If we can identify people who have Lynch Syndrome we can ensure they get access to regular cancer screening as well as risk reducing activities. 

A diagnosis of Lynch Syndrome can also influence management plans for people who develop cancer, including impacting the surgical approaches chosen and the use of specific immunotherapy and chemotherapy treatments, and may impact access to emerging therapies.

Project Overview

Led by both the North Thames and the South East Genomic Medicine Service Alliances, the Lynch Syndrome project is working to improve the identification and management of Lynch Syndrome, bridging the gap in testing and diagnosis of Lynch Syndrome and supporting the early detection of cancer and access to personalised care. The project is currently focused on colorectal and endometrial cancer patients.

We are collaborating closely with the Cancer Alliances, National Disease Registry Service (NDRS), National Cancer Registration and Analysis Service (NCRAS), and the NHS England Cancer Programme to:

  • Establish a Lynch MDT Champion within each Colorectal and Gynae Cancer MDT
  • Upskill the workforce to identify eligible patients for testing and deliver mainstreamed constitutional gene testing
  • Develop Regional Expert Networks to embed standardised and equitable testing pathways for LS across England and monitor and address any geographical variation in testing

Progress to date

Nationally, over 200 MDT Lynch Champions have been appointed to be responsible for Lynch testing pathways across their geographies. These Champions are supported by a network of Regional Lynch Nurses and Clinical Project Leads and are a central member of the Regional Expert Networks that are being established.

A national forum with regional project teams, MDT Champions, Cancer Alliance representatives and other key stakeholders convenes on a regular basis to facilitate discussion of common issues and shared solutions.

The national project leadership team have collaborated with the NDRS to deliver a Lynch data dashboard on CancerStats2, linking national dataset to provide regional and Provider level performance monitoring at each stage of the Lynch testing pathway, including MMR, BRAF and MLH and germline genetic testing. The current full complement of NDRS data includes all patients diagnosed in 2019 with endometrial or colorectal cancers. Although this baseline data shows low access to testing, more recent self-reported data collected by this project via a national survey indicates that this will have increased over the past few years. The NDRS plan to provide more contemporary data for Lynch Syndrome testing and GMSAs are working with GLHs to access other datasets and MDTs are completing local audits to continue monitoring geographical variation and measure impact of project activities on equity of access to testing and appropriate interventions.

Macmillan information page on Lynch Syndrome
Bowel Cancer UK Lynch Syndrome campaign
Eve Appeal information page on Lynch Syndrome

Lynch Syndrome UK website
RMPartners: A beginner's guide to Lynch Syndrome

Key Contacts

Regional Transformation Project Leadership team:
Adam Shaw
Consultant in Clinical Genetics Guy’s and St Thomas’ NHS Foundation Trust
Aela Limbu
South East GMSA Regional Lynch Syndrome Nurse
National Transformation Project Leadership team:
Adam Shaw
Consultant in Clinical Genetics Guy’s and St Thomas’ NHS Foundation Trust
Kevin Monahan (North Thames GMSA)
Consultant Gastroenterologist, Lynch Syndrome and Family Cancer Clinic, St Mark’s Hospital
Laura Monje-Garcia (North Thames GMSA)
Nurse Practitioner and Clinical Research Fellow, Lynch Syndrome and Family Cancer Clinic, St Mark’s Hospital


What causes Lynch Syndrome?

Lynch syndrome is caused by a genetic change in one of the DNA mismatch repair genes called MLH1, MSH2, MSH6 and PMS2. There is a fifth gene involved called the EPCAM gene because it turns off the neighbouring MSH2 gene. EPCAM alterations are very rare and only account for 6% of Lynch syndrome cases.

The function of DNA mismatch repair genes is to repair errors that may arise in the DNA code, which in turn protect people from developing cancer.

Do all people living with Lynch Syndrome develop cancer?

No. Lynch syndrome does not always lead to or cause cancer, but the inherited genetic change that causes Lynch syndrome increases a person’s lifetime risk of developing certain cancer types. The risk of developing cancer from Lynch syndrome depends on the gene affected. The risks associated with variants in PMS2 are much lower than the risks associated with variants in MLH1.

What should I do for individuals will present with concerns about a family history of Lynch syndrome spectrum cancers?

If you believe that your patient may be at risk of developing Lynch syndrome i.e., a strong family history of cancer or family members diagnosed with cancer before the age of 50, then you should recommend referral for a genetic assessment. During the consultation, a family history will be taken and draw a family tree, to assess the risk of an inherited condition in the family.

What should I do if I believe my patient may have Lynch syndrome?

The national Lynch project’s aim is to test every patient who develops bowel or endometrial cancer for Lynch syndrome.
Patients with diagnosed cancer should have further testing (immunohistochemistry, or IHC) to inform the appropriate diagnostic pathway.

Those with a family history of cancer should be directed to the regional genetics’ units for a family history assessment. Genetic counselling helps patients, and their families better understand their risk for hereditary cancer in order that they can make informed decisions about screening, genetic testing, and follow-on care.

What is ‘mainstreaming’?

The term ‘mainstreaming’ refers to the shift of genomic testing away from Clinical Genetics to other clinics and specialities. Within the Lynch Syndrome testing pathway, this means healthcare professionals in the oncology MDTs becoming directly involved in the consenting of patients for germline genetic testing, the requesting of the test and in communicating the result. A goal of the national GMSA transformation project is to upskill oncology MDTs to provide a mainstream testing service for Lynch Syndrome. This will help ensure all eligible patients receive germline testing without delay and results can effectively inform management.

With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.