Transformation Projects
National Transformation Project: Lynch Syndrome
Delivery of a comprehensive service for the detection of Lynch syndrome
A regional Lynch syndrome network service
Lynch syndrome (LS) is an inherited condition which results in an increased risk of certain cancer types. The main concerns are colorectal and endometrial cancer.
There is also an increased risk to other cancers, but they are less frequent. People with LS have up to an 80% risk of developing colorectal cancer in their lifetime and, in women, up to a 60% risk of developing endometrial cancer.
In total LS affects approximately 1 in 350 to 1 in 400 people, with 200,000-300,000 people likely to have this condition in the UK. However, it is estimated that only 5% of people with LS in the UK have been diagnosed.
Identifying people with LS provides the opportunity to detect cancers at an earlier stage through enrolment into screening programmes, and prevent cancers through risk reduction techniques including colonoscopy, prophylactic surgery and chemoprophylaxis with aspirin.
A diagnosis of LS 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.
In addition to preventing cancer and maintaining the health and quality of life of patients and families with LS, there is consistent evidence of the cost-effectiveness of a structured diagnostic pathway in patients with LS following a diagnosis of cancer, linked to cascade testing in families.
We have established a regional Lynch Syndrome Expert Network to support clinician practice in mainstreaming of genetic testing and complexity in clinical care. Please find a list of resources below
Our Regional Expert Network
Please contact the NHS National Lynch Syndrome project team if you have any questions about the information provided here on: lnwh-tr.lynchsyndrometeam@nhs.net
Please find more information about Regional Expert Networks and the National Project here;
The St Marks Centre for Familial Intestinal Cancer (SMFIC), St Mark’s: The National Bowel Hospital (National Lead Centre)
The Lynch Syndrome Clinic at St Mark’s, the National Bowel Hospital, looks after patients with Lynch Syndrome. The focus of this service is to provide people and families with this condition with lifelong multidisciplinary holistic care with the aim of early diagnosis and prevention of cancer and support for psychological and other health needs.
For referrals: lnwh-tr.smcficreferrals@nhs.net
For general enquiries: lnwh-tr.smcfic@nhs.net
Gynaecology services at Barts Health
Referrals to: bartshealth.gynaeoncadminrlh@nhs.net (and CC CNS team)
Clinical enquiries: bartshealth.wpp.cns@nhs.net
NCL Lynch Syndrome surveillance and risk-reducing surgery hub at UCLH
This hub is accessed by patients with confirmed Lynch Syndrome. . The services offered include weekly clinics, ongoing cancer surveillance and risk-reducing surgery. The team also provides support to patients outside of clinic consultations through a patient helpline and email.
Lead consultants: Dr Roser Vega (Gastroenterology) and Prof. Adam Rosenthal (Gynecology)
CNS: Helen Francis
Clinical enquiries: uclh.gilynch@nhs.net
London Cancer Virtual Gynae Risk-Reducing Surgery MDT – UCLH and Barts
This Virtual MDT involves the UCLH and Barts gynae risk reducing surgery teams and the North-east Thames, North-west Thames and the Royal Marsden clinical genetics teams.
If you would like to attend this meeting or present a case, you can email sophia.mekoma@nhs.net for the Microsoft Teams access details.
St Mark’s Hospital: Centre for Familial Intestinal Cancer – Virtual Hereditary Cancer MDT
Held every Tuesday 9.00 am to 10.00 am to discuss mainstreaming but complex diagnostic or surveillance issues and other aspects of hereditary cancer. Referrals from across SE England aimed to link separate specialist services.
If you would like to attend this meeting or present a case, you can email LNWH-tr.SMCFIC@nhs.net for the Microsoft Teams access details.
Gynae-onc MDTs at UCLH and Barts.
Held every Tuesday 9.00 am to 10.00 am on the 4th floor of the Macmillan Cancer Centre.
If you would like to attend this meeting please email ucl-tr.GynaeOncology@nhs.net
North-West Thames Regional Genetics Service
Referrals to: lnwh-tr.geneticreferrals@nhs.net
Clinical enquiries: lnwh-tr.nwtrgscancerqueries@nhs.net
North-East Thames Regional Genetics Service
Referrals and enquires to: gos-tr.ClinicalGenetics@nhs.net
Cancer Genetics Unit at RMH
Referrals and enquires to: rmh-tr.cancergenetics@nhs.net
UCLH menopause team
UCLH Gynae management at UCLH offers menopause services.
Eligibility Criteria:
- Surgical menopause before the age of 40 (premature ovarian insufficiency)
- Those reluctant to have, or declining, risk reducing surgery due to concern about menopausal symptoms.
- Those where there is uncertainty about suitability for HRT or contra indications to HRT.
- Those with significant ongoing menopausal symptoms despite 3 months of adequate oestrogen HRT.
Referrals should be made to uclh.rmu@nhs.net
Urology Lynch Syndrome Service
For clinical enquiries please contact: r.heer@imperial.ac.uk
Skin/adnexal cancers in Lynch Syndrome
Royal Marsden Hospital Dematogenetics, for clinical enquiries please email: rmh-tr.cancergenetics@nhs.net
To find out about ongoing research studies available for patients with Lynch Syndrome please search the National Institute for Health and Care Research online tool.
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 (to request access follow this instructions), 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.
Project overview
Led by the North Thames and South East GMSAs, the NHS GMS National 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 will initially focus on colorectal and endometrial cancer patients and over time the programme will aim to extend LS screening across relevant tumour types.
The GMSAs 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
Resources to signpost
Latest resources for National Transformation Project: Lynch Syndrome can be found below.
How to order a test:
1. Region specific testing pathway/algorithm:
3. Region specific supporting documents:
Description of Local Cancer MDT Lynch Champion
Local Colorectal cancer MDT Lynch Champion step-by-step guide (Please note that there are documents embedded in this word document. To open double click on the icon)
Local Endometrial cancer MDT Lynch Champion step-by-step guide (Please note that there are documents embedded in this word document. To open double click on the icon)
Excel audit tool of (only 30 patients to assess LS diagnostic pathway)
Key Contacts
Dr Kevin Monahan, North Thames GMSA
Consultant Gastroenterologist, Lynch Syndrome and Family Cancer Clinic, St Mark’s Hospital
Dr Adam Shaw, South East GMSA
Consultant in Clinical Genetics Guy’s and St Thomas’ NHS Foundation Trust
Laura Monje-Garcia, North Thames GMSA
Nurse Practitioner and Clinical Research Fellow
St Mark’s centre for familial intestinal cancer
The St Mark’s Centre for Familial Intestinal Cancer, Polyposis, Lynch and family cancer
St Mark’s Hospital
Central Middlesex Hospital Site, Acton Lane, Park Royal NW10 7NS
Tel: 020 8453 2656 | Email: LNWH-tr.SMCFIC@nhs.net
Website: www.polyposisandlynch.com
North Thames GMSA you can contact:
Regional Lynch syndrome lead: Dr Kevin Monahan K.Monahan@nhs.net
Regional Lynch syndrome nurse: Anna Koziel Anna.Koziel@nhs.net
National lead Nurse for the Lynch syndrome project: Laura Monje-Garcia Laura.Monje-Garcia@nhs.net
North West GMSA region you can contact:
Regional Lynch syndrome lead: Fiona Lalloo Fiona.Lalloo@mft.nhs.uk
Regional Lynch syndrome nurse: Miranda.Darbyshire@elht.nhs.net
Region specific website & resources: https://www.nw-gmsa.nhs.uk/education-and-research/et-resources/lynch-syndrome-genetic-testing-pathway
For the South East GMSA region you can contact:
Regional Lynch syndrome lead: Dr Adam Shaw Adam.Shaw@gstt.nhs.uk
Regional Lynch syndrome nurse: Aela.Limbu@gstt.nhs.uk
Region specific website & resources: https://southeastgenomics.nhs.uk/lynch-syndrome/
Central & South GMSA region you can contact:
Regional Lynch syndrome lead: Confirming lead name (TBC – I will know mid December)
Project Manager: Lisa Dew lisa.dew@uhb.nhs.uk
Regional Lynch syndrome nurse: (TBC)
Region specific website & resources: https://centralsouthgenomics.nhs.uk/
For the South West GMSA region you can contact:
Regional Lynch syndrome lead: Fran McDemott f.mcdermott@nhs.net
Regional Lynch syndrome nurse: Sarah.John@nbt.nhs.uk & Siobhan.john@nhs.net
Region specific website & resources:Insert URL/s here
East GMSA region you can contact:
Regional Lynch syndrome lead: Ruth Armstrong ruth.armstrong@addenbrookes.nhs.uk
Regional Lynch syndrome nurse: (TBC)
Region specific website & resources: https://www.eastgenomics.nhs.uk/about-us/genomic-medicine-service-alliance/Transformation_Projects/lynch-syndrome/
For the North East & Yorkshire GMSA region you can contact:
Regional Lynch syndrome lead: Dr Jackie Cook jackie.cook8@nhs.net and Dr Sally Lane sallylane@nhs.net
Regional Lynch syndrome nurse: Amy.sanderson5@nhs.net; K.westaway@nhs.net & Rebecca.foster26@nhs.net
Region specific website & resources: https://ney-genomics.org.uk/our-work/lynch-syndrome-improving-patient-outcomes/
National lead nurse for the Lynch syndrome project (based North Thames GMSA region): Laura Monje-Garcia Laura.monje-garcia@nhs.net
Providing expertise & training in gynaecological cancers in Lynch syndrome (based South West GMSA region): Tracie Miles, Associate Director of Nursing & Midwifery Tracie.miles@nhs.net
News & updates
New Regional Lynch Syndrome Expert Networks in development
Lynch syndrome (LS) affects approximately 1 in 400 adults and predisposes to multiple cancers including colorectal, endometrial, ovarian, and a range of other cancers. There is consistent evidence of the cost-effectiveness and clinical benefit of a structured diagnostic pathway in patients with LS following a diagnosis of cancer linked to cascade testing in families.
FAQs
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.
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.
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.
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, or microsatellite instability MSI) 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.
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 cancer 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.