Lynch Syndrome where we were and where we are now.
Blog
“Prevention is better than cure – vaccination for Lynch syndrome”. Dr David Church
David Church is an Associate Professor, Cancer Research UK Advanced Clinician Scientist Fellow and group leader at the Centre for Human Genetics, University of Oxford, an Honorary Consultant Medical Oncologist at the Oxford Cancer Centre, and clinical lead for the NHSE Lynch Syndrome Transformation Project across the Central and South GMSA (population 10.5m).
His group’s research focuses on the identification and characterisation of novel biomarkers and therapeutic targets in endometrial and colorectal cancer, especially those relating to hyper/ultra-mutation and the anti-tumour immune response.
He leads the Genomics England 100K Genomes Project endometrial cancer domain and is a member of several clinical trial translational research groups including TransSCOT and TransPORTEC.
2025 LS UK Conference + 2024 event
Professor Emma Crosbie LS Annual Conference 2025
Endometrial cancer risks, periods, pregnancy, HRT and menopause.
Hereditary Cancer Syndrome Carriers: Feeling Left in the Corner
Objectives: There is limited evidence on health promotion interventions in people with hereditary cancer syndromes or on their main sources of support and information. This study aimed to understand these patients’ experiences and needs, including their information needs, their views on prevention and mental health, and the support they want from nurses. (small study)
Conclusions: People with hereditary cancer syndromes need professionals to be involved in their long-term management and to provide reliable information. As genomics are increasingly integrated in oncology, the need for professionals to support these populations will increase.
Implications for nursing practice: Nurses are crucial for promoting self-management and advocating for patient decision-making; however, they need skills and knowledge to do so. There is a need for nurses to get more involved in understanding hereditary cancer syndromes and an opportunity to take the lead in the care of these people.
The Cancer Prevention Project 3 study (CaPP3)
The trial involved 1,879 people with Lynch syndrome who were given three different-sized doses of the painkiller.
The Cancer Prevention Project 3 study (CaPP3), supported by Cancer Research UK, involved patients taking a different daily dose of aspirin: 100mg, 300mg or 600mg. In the trial, a European-sized dose of 100 mg aspirin was used. The established dose is 75mg per day in the UK, and 81mg in the US.
People with Lynch syndrome have inherited a faulty gene which can increase their chances of developing some cancers – including bowel and womb cancer.
Prof John Burn, who led the international study, said he focused his research on those patients “because they get so many cancers”.
“We already have NICE guidance saying people with Lynch syndrome should be recommended to take aspirin. Now we should recommend a baby aspirin.” new results showed the lowest dose worked just as well as the larger doses.
“Roughly speaking, if someone with Lynch syndrome has about a 2% a year chance of getting mostly bowel cancers, we think if they take aspirin, that is halved – down to about 1% a year,” he explained.
In some people, aspirin can cause bleeding, so Prof Burn said he wanted health regulators to now recommend the lowest dose be given to Lynch syndrome patients.
Nonoperative Management of Mismatch Repair–Deficient Tumours
Among patients with mismatch repair–deficient (dMMR), locally advanced rectal cancer, neoadjuvant checkpoint blockade eliminated the need for surgery in a high proportion of patients. Whether this approach can be extended to all early-stage dMMR solid tumours, regardless of tumour site, is unknown.
A total of 117 patients were included in the analysis. Phase 2 study.
CONCLUSIONS
Among patients with early-stage dMMR solid tumours that were amenable to curative-intent surgery, neoadjuvant PD-1 blockade led to organ preservation in a high proportion of patients.
https://www.nejm.org/doi/full/10.1056/NEJMoa2404512?query=WB
Clinical referral to the NHS following multi-cancer early detection test results from the NHS-Galleri trial
The large, randomised, controlled NHS-Galleri trial (NCT05611632) is assessing the clinical utility of a multi-cancer early detection (MCED) test for asymptomatic cancer screening in England.
Conclusions: To our knowledge, the NHS-Galleri trial has established the first model for the standardised clinical referral of asymptomatic individuals from a trial into NHS standard-of-care cancer pathways. We hope insights from our work could help accelerate screening trial conduct in the UK, and support MCED population screening programme implementation in future.
https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2025.1511816/full
The Myth that Cervical Screening Checks for All Gynecological Cancers
Research in Ireland commissioned by the Irish Network of Gynaecological Oncology (INGO) and supported by Breakthrough Cancer Research highlights the misconceptions that exist surrounding cervical screening, showing that one in three women in Ireland (34%) mistakenly believe that cervical screening checks for all five gynecological cancers
(https://isgo.ie/ingo-outputs/).
National Cancer Registry Ireland
The National Cancer Registry Ireland (NCRI) has just launched its new website. This redesigned platform offers a user-friendly experience and improves access to essential cancer data and resources. This significant update reflects the NCRI’s commitment to enhancing the accessibility and presentation of vital information on cancer statistics and research in Ireland.
Key features include simplified navigation, enhanced mobile compatibility, and interactive tools for data visualisation. This new website will better serve the cancer community and stakeholders by providing clear and comprehensive information on cancer statistics in Ireland.
Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome
Hereditary factors play a key role in the risk of developing several cancers. Identification of a germline predisposition can have important implications for treatment decisions, risk-reducing interventions, cancer screening, and germline testing.
Key Points:
Questions Does universal genetic testing in patients with cancer identify more inherited cancer predisposition variants than a guideline-based approach, and what is the association between universal genetic testing and clinical management?
Findings In this multicenter cohort study of 2984 patients with cancer, 1 in 8 patients had a pathogenic germline variant, half of which would not have been detected using a guideline-based approach. Nearly 30% of patients with a high-penetrance variant had modifications in their treatment based on the finding.
Meaning Universal genetic testing detected more clinically actionable variants than a guideline-based approach, with a significant association with clinical management for the patients and their families.
https://jamanetwork.com/journals/jamaoncology/fullarticle/2772576/
