Author: Lynch Syndrome Ireland

Outcomes of endometrial cancer prevention strategies in Patients with Lynch syndrome: a nationwide cohort study.

Female Lynch syndrome carriers have an increased risk of developing endometrial cancer. Regardless, research on endometrial carcinoma tumorigenesis is scarce and no uniform, evidence-based gynaecological management guidelines exist. We therefore described gynaecological surveillance and surgery outcomes in a nation-wide Lynch syndrome cohort.

Interpretation: In a nation-wide cohort of Lynch syndrome carriers, nearly one-third of eligible carriers did not undergo gynaecological surveillance. Endometrial carcinomas diagnosed during surveillance were slightly more often stage FIGO IA, but this did not seem to substantially decrease the requisite for adjuvant therapy or affect overall survival, questioning effectiveness of current gynaecological management. Prospective research should further assess this, as well as patient preferences.

Click to access PIIS2589-5370(24)00585-6.pdf

Presentation: Patient with a genetic diagnosis of Lynch syndrome

Attention GP’s

Lynch syndrome is an inherited colorectal cancer condition that confers a high risk of developing other cancers. It is essential to identify the causative gene variant before making management recommendations.

https://www.genomicseducation.hee.nhs.uk/genotes/in-the-clinic/presentation-patient-with-a-genetic-diagnosis-of-lynch-syndrome/

What is the Lynch syndrome registry? (UK)

Lynch syndrome can run in families. It increases your risk of being diagnosed with bowel cancer, as well as other cancers including endometrial (womb), ovarian, stomach, bladder, kidney, and skin cancers. This condition is diagnosed by having a genetic test.

The Lynch syndrome registry records and analyses important information about people with Lynch syndrome. This helps to understand how people with Lynch syndrome are looked after and cared for across England. All information is held on a secure and confidential computer database.

Why have a Lynch syndrome registry? 

The focus of the Lynch syndrome registry is to address the differences in access, quality and timeliness of regular check-ups that people with Lynch syndrome in England currently experience.

The registry will collect information from people with Lynch syndrome and help us to better understand how these people are currently being monitored and managed. 

https://www.40tude.org.uk/news/kevin-monahan-award-25

https://lynchregistry.org.uk/#:~:text=The%20Lynch%20syndrome%20registry%20records,secure%20and%20confidential%20computer%20database.

April is Bowel Cancer Awareness Month

According to the 2023 National Cancer Registry of Ireland (NCRI) report, around 2,500 men and women are diagnosed with bowel cancer in Ireland every year 1,452 men and 1,047 women. To learn more about the condition and some helpful advice to support you at every step of your bowel cancer journey, click below.

Bowel Cancer

Navigating Patient Vulnerability During Medical Procedures

The person actually taking a sharp object to cut me open to remove my port, he never introduced himself to me.

This act of restraint heightened feelings of vulnerability and helplessness.

No one acknowledged that I was speaking.

It’s scary to be so vulnerable, no matter how old you are, no matter how many procedures you endure, especially when you’ve never met the person performing it and can’t see.

I couldn’t anticipate the impact.

The doctor who performed the procedure never came to talk to me.

Navigating Patient Vulnerability During Medical Procedures

Nouscom to Present Final Results from Successful Phase Ib/II Trial of NOUS-209 in People Living with Lynch Syndrome, Demonstrating Powerful Potential to Intercept Cancer in its Earliest Stages of Development

Lynch Syndrome (LS) is a common hereditary condition that significantly increases the risk of developing cancer, especially colorectal and endometrial cancers

NOUS-209 is an off-the-shelf immunotherapy designed to harness the power of the immune system to recognise and eliminate cancer before tumours develop.

Full safety and immunogenicity results from a Phase Ib/II study of NOUS-209 in LS to be presented in an oral presentation at AACR 2025

Following positive meetings with FDA, NOUS-209 clinical data support advancement to a potentially registration-enabling clinical study for cancer interception in LS

https://www.globenewswire.com/news-release/2025/3/25/3049177/0/en/Nouscom-to-Present-Final-Results-from-Successful-Phase-Ib-II-Trial-of-NOUS-209-in-People-Living-with-Lynch-Syndrome-Demonstrating-Powerful-Potential-to-Intercept-Cancer-in-its-Earl.html

Lynch Syndrome Cancer Prevention Vaccine: What is the Latest? Dana- Farber Cancer Institute

Dana-Farber researchers are running a clinical trial testing a cancer vaccine that trains the immune system to very specifically recognize the kinds of cancer cells that are likely to develop in people with Lynch syndrome — and eradicate them before they develop into cancer. 

Lynch Syndrome Cancer Prevention Vaccine: What is the Latest? 

New report : How can we improve the experience for people who need to be screened for Lynch syndrome?-NHS

Recommendations:

Training for GPs & oncologists in Lynch syndrome needs to be a priority. 
Improved communication between services about the Lynch syndrome pathway 
Taking a person-centred approach to Lynch syndrome 
Every patient should have a named contact in a mainstreamed clinic 
All clinicians providing mainstreamed clinics should have access to appropriate guidance. This knowledge can then be shared with patients at the point of care 
Reduce pathway variation and ensure geographical equity of care. 
Dedicated, specialist clinicians trained in Lynch syndrome mainstreaming should be provided for all patients 
Standardised patient information should be created and utilised across all regions and NHS providers 
Lynch Syndrome App should be widely promoted among healthcare providers to help increase awareness of the condition. 
Everyone diagnosed with Lynch Syndrome should be given information about Lynch Syndrome UK 
Standardised information about ‘Living with Lynch’, talking to relatives, family planning, and mental health support should be created. 
New processes around cascade testing should be considered to improve support and information provided for the patient and their families. 
Consider concerns of/about family members 
Regular, clear and consistent communication for patients whilst awaiting appointments or results is necessary. 
Increased psychological support 
Training given to all clinicians (not just those working with Lynch) about gender inclusivity and how to ensure that patients feel welcomed and respected within any NHS service.

https://southeastgenomics.nhs.uk/new-report-how-can-we-improve-the-experience-for-people-who-need-to-be-screened-for-lynch-syndrome/

National Screening Service

Annual report available at…

https://www2.healthservice.hse.ie/organisation/nss/news/operational-excellence-quality-central-to-strategy-implementation-at-nss/

Lots of lovely words and Pics…unfortunately uptake of Free Bowel screen is still very low…why?

Genetics V Genomics

Difference between Coding and Noncoding DNA
Coding DNA Noncoding DNA 
They have a DNA sequence to encode for proteins.These DNA sequences do not encode for protein.
The coding sequence has exons.It has regulatory elements, introns, repeating sequences, pseudogenes, and telomeres.
They are approximately 1% of our total genome.They form around 99% of our genome.
They encode proteins that have regulatory, structural, as well as functional importance.They control and regulate gene activity.