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Primary care: the ‘linchpin’ in Lynch syndrome
In most cases, a person will be diagnosed with Lynch syndrome following a cancer diagnosis.
People may also be identified with Lynch syndrome after a family member has been diagnosed with the condition (for example, cascade testing), or, less frequently, for those with a strong family history, by referral for genetic testing from their GP.
Following a diagnosis of Lynch syndrome and treatment of any cancers, most of the contact for patients will be with the NHS Bowel Cancer Screening Programme and their primary care team.
Fragmentation of Lynch syndrome care
A persistent challenge reported by people with Lynch syndrome is a lack of consistent and coordinated health care to help support them to manage their condition generally.
Improved communication from secondary and tertiary care is needed to enable consistent coding of Lynch syndrome on patient health records and for primary care to fulfil its role as the ‘linchpin’ of comprehensive care.
Lynch Syndrome: Similarities and Differences of Recommendations in Published Guidelines
ABSTRACT:
Background: In this review, we aimed to compare the recommendations for Lynch syndrome (LS).
Methods: We compared the LS’s guidelines of different medical societies, including recommendations for cancer surveillance, aspirin treatment, and universal screening.
Results: Most guidelines for LS patients recommend intervals of 1–2 years for performing colonoscopy, though there is disagreement regarding the age to begin CRC screening (dependent on status as a MLH1/MSH2 or MSH6/PMS2 carrier). There are inconsistencies between LS guidelines for gastric cancer surveillance. Most guidelines do not recommend routine surveillance of the pancreas and small bowel. Most but not all of the guidelines support endometrial and ovarian surveillance with trans- vaginal ultrasound and endometrial biopsy. Only two societies recommend urological surveillance, while others recommend surveillance among high- risk carriers with family history only. There is significant disagreement between the guidelines about the recommendation for limited or extended bowel resection among patients with CRC. Aspirin use is recommended by most societies, though some with reservations, and most of them recommend universal screening.
Conclusions: There are significant disparities and disagreements in the guidelines and recommendations for patients with LS, causing confusion and difficulties for clinicians. Harmonisation and cooperation are needed between the societies creating LS guidelines.
Digital for Care 2030 Overview
With the focus on the evolving needs of patients and their families, Digital for Care 2030 will ensure that healthcare professionals have access to modern digital tools for delivering better, safer care. Explore more by clicking on the tiles below to discover the key elements of Digital for Care.
The aim is to implement the work outlined collaboratively by both the Department of Health and the HSE to digitally transform our health services into a modern, integrated care system which will:
- Improve delivery of safe patient care.
- Deliver better health outcomes and access to care.
- Make all relevant data available to patients to manage their health more effectively.
- Allow for more capacity in our health services.
- Reduce hospital admissions.
- Reduce the cost of care.
Eating a nutritious diet is essential during cancer
It is important to remember that keeping well-nourished is vital for recovery, can help you feel better, and your body stays strong and yields many physical and mental benefits.
There is no scientific evidence that following any diet can cure cancer or replace cancer treatment. In recent years there has been a lot of interest in diet and cancer. Complementary or alternative fad diets are often restrictive and make false claims about curing or treating cancer.
After cancer treatment, it is helpful to maintain a healthy body weight to reduce your risk of cancer recurrence, diabetes, and heart disease. If you are considering following a particular diet, discuss it with your doctor or a dietitian.
You can find evidence-based information, resources and recipes to support people with cancer who are in active treatment or post treatment here
Nouscom Presents Positive Final Results from Completed Phase Ib/II Study of Neoantigen Immunotherapy NOUS-209 at AACR 2025, Demonstrating a Highly Potent and Durable Immune Response in Lynch Syndrome Carriers
- Lynch Syndrome (LS) is a common hereditary condition that significantly increases the lifetime risk of cancer, especially colorectal and endometrial, to as high as 80%
- NOUS-209 is an off-the-shelf immunotherapy designed to harness the power of the immune system to recognize and eliminate cancer cells before tumours develop
- Final results from a Phase Ib/II study of NOUS-209 monotherapy in LS carriers confirm its safety and immunogenicity, supporting advancement to a potentially registration-enabling study for cancer interception
The completed Phase Ib/II trial evaluated safety and immunogenicity in 45 LS carriers
- T cells induced by NOUS-209 were shown to directly kill tumour cells ex vivo, confirming functional anti-cancer activity
NOUS-209 is a pioneering approach to cancer interception comprising two proprietary viral vectors that deliver 209 shared FSP neoantigens and train the immune system to recognise and attack cancerous and pre-cancerous cells before tumours can fully develop.
“Currently, individuals with Lynch Syndrome rely on frequent screenings, such as colonoscopies, to manage their markedly increased risk of developing cancer. These latest data are a step toward a completely new approach – leveraging the immune system for cancer interception,” said the study’s principal investigator, Eduardo Vilar-Sanchez, M.D., Ph.D., Professor of Clinical Cancer Prevention at The University of Texas MD Anderson Cancer Center.
Using Only Immunotherapy Successfully Treats Several Cancers With MMRd Mutation, Improves Quality of Life
Immunotherapy drugs work by helping the immune system find and attack cancer cells. They work best when the cells are easier for the immune system to find.
Cancer cells that are MMRd look more foreign to the immune system. That makes them easier for immune cells to find. The checkpoint inhibitor drugs are more likely to work.
This therapy “unmasks” tumor cells, making it easier for the patient’s own immune system to recognise and kill cancer cells.
The treatment has proved particularly helpful for people whose tumors are caused by Lynch syndrome, an inherited condition that makes people much more likely to develop colorectal and other cancers.
“People with Lynch syndrome usually don’t respond well to chemotherapy, so this gives them an important new option for treatment of early-stage disease,” says Dr. Cercek.
Getting the CMMRD Facts Straight After Family Loses 3 Children in 6 Years to Hereditary Cancer Syndrome
Originally published February 29, 2016
Lynch syndrome is an autosomal dominant condition. This means that a person who carries one copy of a mutation in any of the genes known to cause Lynch syndrome is at increased risk to develop multiple adult-onset cancers, especially those of the colon, uterus, and ovaries.
A person who carries two mutations in the same gene in any of the genes associated with Lynch syndrome (MLH1, MSH2, MSH6, PMS2) has a completely different syndrome called Constitutional Mismatch Repair Deficiency (CMMRD). This usually occurs when a person inherits one mutation from their father and the other from their mother. This rare condition is associated with a high risk of early-onset cancers, including childhood onset cancers of the brain and blood. Café au lait spots, flat light-brown birthmarks on the skin, are also common.
https://www.mygenecounsel.com/getting-the-cmmrd-facts-straight/
Colorectal Cancer (Bowel Cancer) Risk Factors & Prevention
Certain inherited genetic syndromes:
About 5–10% of people who develop colorectal cancer have inherited changes (mutations) in their genes (the functional units of our genetic material, also known as DNA) that can lead to them getting the disease. These are often associated with people having colorectal cancer at a younger age than average. The most common hereditary conditions leading to colorectal cancer are:
- Lynch syndrome: This is the most common hereditary syndrome leading to colorectal cancer. It accounts for about 3–5% of all colorectal cancers. The lifetime risk of colorectal cancer in people with this condition is 20–70%.
Nous-209 off-the-shelf neoantigen immunotherapy induces robust neoantigen T cell response with the potential to intercept cancer in Lynch syndrome carriers
Cancer interception represents a new approach, aimed at targeting precancerous lesions and therefore preventing cancer occurrence. Lynch syndrome is one of the most prevalent hereditary cancer syndromes, with an estimated prevalence of one in 300, and high-risk predisposition to several types of cancer, with up to 80% lifetime risk to develop CRC.
Loss of MMR proteins causes an accumulation of mutations in the microsatellite sequences, known as Microsatellite instability (MSI), that can lead to shared frameshift mutations .
Nous-209 is a neoantigen directed immunotherapy encoding 209 FSP shared across sporadic and hereditary MSI tumors and precancer lesions in clinical development for interception and treatment of MSI tumors (Leoni et al., 2020; NCT04041310).
Reported are the full set of safety and immunogenicity results of a Phase Ib/II study of Nous-209 monotherapy in LS carriers. (45 enrolled) Neoantigen specific immune responses post Nous-209 were observed in 100% of evaluable participants (37/37)
The complete safety and immunogenicity results from this Phase Ib/II trial support the further development of Nous-209 monotherapy, highlighting its potential to efficiently stimulate the immune system and intercept cancer in LS carriers.
Lynch Syndrome Ireland 