Author: Lynch Syndrome Ireland

Therapeutic targeting of mismatch repair-deficient cancers

Key points
  • Immune-checkpoint inhibitors (ICIs) confer remarkably durable clinical benefit in many patients with DNA mismatch repair-deficient (MMRd) tumours.
  • MMRd tumours are thought to be responsive to ICIs because they harbour many single-base substitutions and frameshift mutations, which, if expressed, have the potential to encode tumour-specific immunogenic neoantigens.
  • Immune-mediated killing of MMRd cancer cells can be orchestrated by various effector cells, enabling MMRd tumours to respond to ICIs despite major histocompatibility complex (MHC) class I loss.
  • Most patients with MMRd tumours derive benefit from ICIs, although a substantial number have primary resistance and many more develop acquired resistance.
  • Many potential predictors of response and resistance to ICIs are under active investigation, but none are currently ready for clinical implementation.
  • The accurate diagnosis of MMRd status is an important determinant of ICI response. This is best achieved through a multimodal approach that involves immunohistochemical analysis of mismatch repair protein expression and microsatellite profiling.

MMRd seems to be acquired early during oncogenesis and is followed by the progressive accumulation of mutations and neoantigens, which ultimately predispose to immune sensitivity. 

https://www.nature.com/articles/s41571-025-01054-6

Patient-Centred Care,

I get worried when I see this term used……

Ideally, all patient care should be patient-centred, focusing on individual preferences, needs, and values, but the term “patient-centred care” highlights a shift from older, more physician-driven models to a partnership where the patient is a key decision-maker. This approach ensures care is coordinated, respectful, and empowering, leading to better patient satisfaction and health outcomes. 

What Patient-Centred Care Entails

  • Respect for Values and Needs: Healthcare professionals respect and respond to a patient’s unique values, preferences, and needs. 
  • Shared Decision-Making: Patients are actively involved in care planning and decisions, rather than having a one-size-fits-all solution imposed on them. 
  • Holistic Approach: Care extends beyond symptoms to include emotional, social, and spiritual concerns, recognising the whole person. 
  • Clear Communication: Information is shared clearly and openly, enabling patients to be informed and engaged. 
  • Coordination and Integration: Care is coordinated across different providers and settings to ensure a seamless experience. 

Why It’s a Shift from the Past

  • Past vs. Present: Historically, healthcare often followed routines and practices deemed most appropriate by professionals, with patients expected to conform. 
  • Empowerment: Patient-centred care empowers individuals, giving them a say in their health and promoting greater responsibility for their well-being. 

Benefits of Patient-Centred Care 

  • Improved Outcomes: Patients who are more engaged and informed tend to have better health outcomes.
  • Increased Satisfaction: Patients are more likely to be satisfied with their care when they feel their needs and preferences are met.
  • Enhanced Engagement: Patients feel more motivated to make healthy lifestyle choices when they are active participants in their care.
  • Greater Independence: By enhancing the quality of care, patients can often remain independent for longer.

Sometimes we need permission to be grumpy 

Sometimes we need permission to be grumpy and ungrateful and selfish. We need to allow ourselves the opportunity to take a day off from being a better person. 

Then we can wake up again the next day and marvel at the wonder of a perfect soft-boiled egg.

Appreciating the small things (but not all the time)

THISISGO.IE

The platform (on-line portal) which was developed ‘by patients for patients’ in partnerships with healthcare professionals, was launched in Sept 2021 and is aiming to change the landscape in how we support those with gynaecological cancers, including cervical, ovarian, endometrial, vulval and vaginal cancers.

Currently there are still significant deficits in the provision of information and support for women affected by gynaecological cancer the team at thisisGO.ie are working, whilst acknowledging the power of cooperation and collection action, to provide this one-stop shop for these women, their families and Health Care Providers via thisisGO.ie

The platform includes articles, videos, podcasts, useful resources, symptom tracker, decoding the science and service directory content. These materials address every stage of the specific cancer diagnosis, treatment and life with and after this cancer. The platform also supports Health Care Professionals in their clinical practice, offering useful articles such as How to Break Bad News and How to take a Sexual History from a Patient.’

thisisGO.ie is kindly supported by the Irish Cancer Society through its Women’s Health Initiative and by UCD Clinical Research Centre (CRC), OvaCare, GSK, Pfizer and patient donations.

Please see https://thisisgo.ie/

IRISH NETWORK OF GYNAECOLOGICAL ONCOLOGY

The Irish Network for Gynaecological Oncology comprises over 30 of Ireland’s foremost gynaecological cancer campaigners, researchers and patient advocates.

The aim of the group is to raise awareness of gynaecological cancers across the Island of Ireland. The group are part of an international effort for 2 major awareness events annually; World Ovarian Cancer Day on May 8th and World Gynaecological Oncology Day on September 20th.

http://www.thisisgo.ie

https://isgo.ie/irish-network-for-gynaecological-oncology/

Is It Advisable to Use Probiotics Routinely After a Colonoscopy? (A Rapid Comprehensive Review of the Evidence)

About 5–20% of patients who undergo colonoscopy, in the days and weeks following the procedure, develop various symptoms (abdominal pain, bloating, and bowel alteration) mainly related to dysbiosis(imbalance in bacterial composition) induced by the propaedeutic intestinal preparation. 

Conclusion: more prospective multi-arm case-control studies on large case series are certainly needed to establish the real efficacy and necessity of probiotic treatments after colonoscopy. There is a wide variability of proposed treatments that have not been compared with each other and no cost-effectiveness analysis is yet available in the literature. Therefore, we are still far from being able to suggest a routine probiotics treatment after colonoscopy.

https://pmc.ncbi.nlm.nih.gov/articles/PMC12194910/#:~:text=To%20date%2C%20to%20our%20knowledge,10%2C11%2C12%5D.

Medical misogyny and “harrowing” experiences: what are doctors doing to improve outpatient gynaecological procedures?

This is a subject recently explored by a UK parliamentary inquiry.

Reporting its findings in December 2024, the Women and Equalities Committee found that doctors were too often dismissive of symptoms when women presented with reproductive health conditions such as endometriosis, adenomyosis, or heavy menstrual bleeding. The report also singled out the “harrowing experiences” of women in outpatient settings undergoing hysteroscopies and coil fitting as “one of the most troubling aspects of our inquiry.”

The committee learnt that women weren’t always informed about the potential pain that such procedures can induce; nor were they always able to get sufficient pain relief or stop a procedure once it was under way—all practices that, the committee noted, went against medical best practice and guidelines.

https://www.bmj.com/content/390/bmj.r1234

What to expect from the NHS Bowel Screening Programme for people with Lynch syndrome

If you live with Lynch syndrome, regular bowel screening is one of the most effective ways to reduce your risk of bowel (colorectal) cancer and catch problems early. The NHS Bowel Cancer Screening Programme has produced a clear, plain-English leaflet, Helping You Decide, to walk you through the offer and help you choose what’s right for you.

Why we offer colonoscopies to people with Lynch syndrome

For people with Lynch syndrome, regular screening by having a colonoscopy has been shown to reduce the chance of becoming seriously ill or dying from bowel cancer, as well as reducing the chance of bowel cancer developing in the first place.

This is because screening through a colonoscopy can detect bowel cancer when it is at an early stage when treatment is more likely to be effective. It can also help to find polyps. These are small growths on the lining of the bowel. Polyps are not cancers but may develop into cancers over time. Polyps can be easily removed, which reduces the risk of bowel cancer developing.

Your clinical genetics team will continue to help you manage your other Lynch syndrome needs and risks (such as gynae and skin checks).

https://www.lynch-syndrome-uk.org/post/nhs-bowel-screening-for-people-with-lynch-syndrome-what-to-expect-and-how-to-decide

After Being Declared Cancer-Free

Most people believe that once a person is declared to be cancer-free that all is over.

Long after the doctor has given you this wonderful news, you still think about your journey and wonder if the cancer will come back. But, you keep these thoughts in your mind and live with this sense of fear always lingering in the back of your mind wondering if you just might be one of the very few for whom the cancer will return.

Being realistic, just about every survivor will think about this on occasion. When it comes time for yearly testing, you pray and hope beyond hope that nothing new will be discovered. This is perfectly natural but if you find yourself having these thoughts frequently, it is time to do yourself a favor and seek professional help.

Breast Cancer: After Being Declared Cancer-Free

Making Listening a Core Competency in Healthcare

In practice, listening remains underdeveloped.

Systems reward efficiency, clinicians are pressed for time, and communication is often reduced to extracting the minimum information needed to move forward.

Listening may seem simple, but in practice it is fragile. Systems reward speed, clinicians are pressed for time, and patients quickly learn when their voice is secondary.

For patients, listening is never a “soft skill.” It is the difference between being treated as a case and being recognised as a person. It is the thread that connects trust, safety, and healing.

For patients, listening isn’t an extra. It is the care.

https://open.substack.com/pub/patientvoicecollective/p/making-listening-a-core-competency?utm_campaign=post&utm_medium=email