Lynch Syndrome – Cascade Testing

Cascade testing refers to testing “at-risk” family members for a gene mutation, once the mutation has been found in a family member.

For Lynch syndrome, once family members get cascade testing, they can also benefit from screening, cancer prevention, and early detection strategies.

So if a family member has Lynch syndrome

You can ask your GP to refer you to a cancer genetics service.

Family members who can get a test include:

  • parents
  • brothers or sisters
  • children age 18 and over

Ask your relative for a copy of their Lynch syndrome test result or a letter you can bring to your GP appointment – if they have one.

If you get a Lynch syndrome diagnosis, your relatives can ask their GP to refer them to a cancer genetics service. This is known as cascade testing. It is also known as predictive testing.

Lynch syndrome test results can help your healthcare team:

Prostate Cancer-Impact study

Dr Liz Bancroft Lynch Syndrome Annual Conference 2025

an international research initiative investigating targeted prostate cancer (PrCa) screening in men with inherited genetic mutations, specifically those in the BRCA1, BRCA2, and Lynch syndrome genes. The study aims to determine the effectiveness of PSA screening in detecting clinically significant prostate cancer in these high-risk individuals and to compare the findings with a control group of men without the mutations. 

The Art of Distraction

UCAN Ireland notes with concern the comments attributed to Prof. Michael Barry in today’s RTÉ article by Fergal Bowers.

We are a grassroots, independent advocacy movement driven by one goal — to ensure that Irish cancer patients have timely and equitable access to the best available treatments, in line with European standards.

Prof. Barry’s remarks risk undermining the integrity of clinicians and advocates who have, in good faith and with full transparency, called attention to delays and shortcomings in the drug reimbursement process in Ireland. Suggesting that clinicians are somehow compromised by industry involvement is a deeply unfair and unsubstantiated claim. These are healthcare professionals who see first-hand the consequences of delayed access — and they are speaking out because their patients cannot afford to wait.

It is also important to point out that such comments serve as a distraction from the real issue: Ireland’s reimbursement system is not fit for purpose. By international comparison, we are among the slowest in Europe when it comes to approving access to innovative cancer therapies for public patients. This is not a matter of perception — it is borne out by the data and by the lived experience of patients across the country.

UCAN Ireland will continue to advocate, without fear or favour, for a reformed and patient-centred reimbursement system that serves the needs of those it is supposed to protect.

https://www.rte.ie/news/health/2025/0701/1521161-drug-payments-ireland/

Bowel Prep. Hints and Tips

LS UK Annual Conference

John Vergil Briones is a Senior Specialist Screening Practitioner for the Bowel Screening Programme (BSCP) at St Marks Hospital. As part of his role, he ensures patients have a safe and comfortable journey in the BSCP pathway-including but not limited to assessment, taking bowel preparation, undergoing the actual investigations and results discussion.

EU-CIP: Cancer Information Portal

The EU Cancer Information Portal will bring high quality, easy to understand, information for cancer patients and their families.

EU-CIP will also raise awareness of the EU Cancer Mission and Europe’s Beating
Cancer Plan.

They are building a home for reliable cancer information in the European Union.

Their goal is to facilitate access to general and personalised knowledge on cancer prevention, diagnosis, and treatment options.

They will create a common Library of Contents available to all EU Member States.

EU-CiP is for everyone! Cancer patients,Survivors,Families,Caregivers
and Healthcare staff.

https://www.europeancancer.org/resource/strategy-2024-2027.html

“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.

https://pubmed.ncbi.nlm.nih.gov/38575458/

https://pubmed.ncbi.nlm.nih.gov/39313415/

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.

https://www.bbc.com/news/articles/c05702zjl2do

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