Author: Lynch Syndrome Ireland

Don’t wait. Get it checked

Around one in ten bowel cancer diagnoses in Ireland is now to someone under 50, and cases in that age group have almost doubled over the last 25 years. In the US, it’s now the leading cause of cancer death in men aged 20 to 49 and the second-leading cause in women the same age.

BowelScreen still starts at 57. Extending it to 50 was approved in April, but the Department of Health says the full rollout will take years.

Signs of good gut health include comfortable digestion; regular and easy bowel movements; minimal bloating; no excessive gas. A deviation from those might indicate all is not well. 

In the meantime, a sudden change in your bowel habits that doesn’t settle, or any blood in your stool, is a reason to see your GP without delay, whatever your age.

https://www.irishtimes.com/health/your-wellness/2026/09/22/why-your-gut-microbiome-is-important-for-good-health-and-how-to-spot-signs-of-trouble-within

Understanding Cancer Genetics and Hereditary Cancer Risk

https://www.nature.com/articles/s41431-026-02212-9

What is This About?

This article discusses how scientists have discovered that some cancers run in families due to inherited genetic changes. It explains how this knowledge is changing how doctors test for, treat, and prevent cancer.

Key Historical Milestones
  • 1971: Scientists realised that cancer typically requires two genetic “hits” (mutations) to develop, explaining why some families have more cancer cases
  • 1980s-1990s: Researchers identified specific genes that, when mutated, dramatically increase cancer risk (like BRCA1, BRCA2, and others)
  • Today: Doctors now use genetic testing to identify people at high risk and personalise their cancer prevention and treatment plans
The Big Shift: Connecting Two Worlds

Historically, scientists studied:

  1. Somatic mutations (cancer-causing changes that occur only in tumour cells)
  2. Inherited mutations (genetic changes passed down through families)

These were studied separately. Now they’re integrated: if a tumour shows certain genetic changes, doctors test whether the patient inherited that same mutation—which could affect treatment options and what other cancers they might develop.

Current Challenges
  • Many cases remain unexplained: Even with advanced testing, we still don’t know why many families have elevated cancer risk
  • Rare genetic variants: New testing reveals many rare mutations whose danger level is unclear
  • Need for standards: Hospitals need to agree on testing procedures, how to interpret results, and what to tell patients
Emerging Tools and Solutions
  • Polygenic risk scores: Mathematical models predicting cancer risk based on multiple genetic factors
  • Liquid biopsies: Blood tests to detect cancers earlier
  • Advanced sequencing: New technologies to find previously unknown cancer genes
The Human Side

The article emphasises that genetic testing isn’t just scientific—it affects quality of life, family planning decisions, and emotional well-being of people carrying these mutations.

Bottom Line

Hereditary cancer genetics is rapidly evolving, offering better ways to identify at-risk individuals, prevent cancers, and tailor treatments—but significant work remains to make these advances accessible to everyone.

Today is World Gynecologic Oncology Day.

Check out the 5 Gynae Cancers and the symptoms associated with each one.

Testing is the entry point. Prevention is the destination.

Genetic counselling, risk assessment, surveillance, psychological support, risk-reducing surgery and cascade testing all need to sit within a pathway that allows our community to move from knowing about their risk to doing something about it.

These pathways cannot exist solely within individual hospital specialties. They need to connect hospitals, community and primary care services, with clear responsibility for what happens next.

We need to think less about solely how many people we test and more about how many people identified at increased risk actually reach an appropriate preventive intervention, and how we can match each person with the best individual strategy for them.

https://www.sciencedirect.com/science/article/abs/pii/S1048891X26004299

This narrative review synthesises gene-specific counselling, tumour-germline interpretation, and implementation strategies into a clinically oriented pathway from diagnosis to prevention for patients and relatives.

Preventing cancer before it ever begins: 

Unsure if our Health system really understands this idea…

In Ireland current wait list in some cases can be up to 3 years and aprox 3000 on waiting lists for establishing whether you carry a predisposition to cancer.

Insufficient Genetic Counsellors to handle this growing need. Aprox 75% shortfall.

5 to 10% of cancers can be hereditary.

If there is awareness then certain cancers can be prevented.

Genetic cancer predispositions affect Families not just individuals.

https://www.rte.ie/radio/radio1/clips/56f07e8a-a320-4bb6-8d8f-b4c600a0e67a/?fbclid=IwdGRjcAUXJ6twZG9mBWZkaWQWUOiar5qEe1jBhX_5aqNvHJi5SYdrCGV4dG4DYWVtAjExAHNydGMGYXBwX2lkCjY2Mjg1NjgzNzkAAR6qlpDvpBPVZ_HtsbNJ9EIX9cEYDPbxkVEeLiJ0qrKep8P5zykoaBnC9z0RQA_aem_b_VKQx9cIOzHgR7p-QGSQQ

Men and Cancer: Distinct Challenges, Distinct Opportunities.

Men still hit obstacles at every stage of cancer care – from prevention and early detection through treatment and life afterwards.
Many are raised to tough things out and avoid asking for help. Add in the embarrassment of discussing intimate symptoms, a health system that’s often difficult to figure out, and care that’s scattered across different places – and it’s no surprise many men struggle to look after themselves or get the support they need.

“Tell your family” sounds straightforward. But in practice, it’s usually a bit more complicated…..

We don’t talk nearly enough about WHO is responsible for sharing genetic test results with family members.

While one person may undergo genetic testing, this information affects the entire family.

How we communicate that information matters.

This responsibility usually falls on the proband (the person who undergoes genetic testing first). But every family is different.

🔸 What if you’re still trying to process the result yourself?
🔸 What if you’re estranged from the person who needs to know?
🔸 What if someone else in the family is closer to the person you need to share with?

Primary burden: Patients are generally expected to pass on health and risk details to at-risk relatives.
Healthcare provider assistance: Doctors and genetic counsellors frequently supply family communication letters or record copies to make sharing easier.

Even at the best of times, family dynamics can be tricky (and not just around the holidays!). Now throw in the decision to have genetic testing, receiving powerful results, and having the responsibility of relaying those results to your family members. You guessed it – it can get complicated. The issues that can come up when sharing genetic test results have the potential to throw off any family. And with good reason: genetic test results are intensely personal. These results can change everything, as you probably already know.

Some suggestions I came across…

  • Call or meet face-to-face:  If you have a close relationship with a family member, this might be a good option
  • Send a letter or email, consider social media:  If you’re not as close with a family member, this could work. Your doctor or genetic counselor might even have examples to use, or be able to help you write this.  Social media can be an effective way to consider contacting relatives, particularly if you use direct messages (instead of public posts).
  • Give them what they need:  Your exact test result, with the gene and any mutation(s) found, is what relatives need if they want to do their own testing.
  • Be supportive, but not pushy:  Your relative may be hearing this information for the first time, which can be challenging
  • Give them space:  Time may help them digest the details
  • Offer to be available and share resources:  They might need your help to answer questions, or just to listen.
  • Don’t expect them to do what you did:  Even though they may support your decision to have testing, they may not want it themselves – and this is ok, because everyone is different

Life After Cancer Treatment

Cancer survivorship can involve long-term physical, emotional, and financial challenges. Finishing treatment does not always mean that its effects end.

  • Late physical effects: Fatigue, nerve damage (neuropathy), cognitive difficulties (“chemobrain”), heart or lung problems, hormonal changes, chronic pain, lymphedema, and physical changes from surgery can persist for years.
  • Emotional impact: Survivors may experience fear of recurrence, anxiety around scans (“scanxiety”), changes in their outlook on life, survivor guilt, isolation, or PTSD-like symptoms.
  • The “survivorship cliff”: After intensive treatment ends, contact with healthcare teams often decreases dramatically. This can create feelings of vulnerability or abandonment, while ongoing medical care and costs can lead to financial strain.
  • Finding a “new normal”: Recovery is often about adapting rather than returning completely to life before cancer. Survivorship care plans, multidisciplinary healthcare, and peer-support groups can help address physical and emotional needs.
  • Overall message: Cancer survivorship is highly individual. Modern cancer care increasingly focuses not just on survival, but also on quality of life and long-term wellbeing.

https://lnkd.in/p/dctT9sUU

Urinary and Faecal Amino-Acids as Biomarkers for Colorectal Neoplasia in Lynch Syndrome—A Prospective Longitudinal Study

People with Lynch syndrome have a higher risk of developing colorectal cancer, so they need regular colonoscopies. Although colonoscopy is effective, it is invasive and inconvenient, and some cancers can still develop between examinations.

This study explored whether certain substances called amino acids, measured in stool and urine, could help identify people who have colorectal abnormalities. The researchers studied 150 people with Lynch syndrome who provided stool and/or urine samples before and after their surveillance colonoscopy.

They found that:

  • Certain amino acids were present at higher levels in the stool or urine of people with colorectal abnormalities, including cancer, advanced polyps, and other adenomas.
  • Stool amino acids detected about 80% of people with relevant abnormalities.
  • Urine amino acids detected about 88% of these people and were better at identifying people without abnormalities than stool testing.
  • Adding the usual faecal immunochemical test (FIT) to the amino-acid tests did not improve their accuracy.
  • After polyps were removed, several amino-acid levels moved closer to those seen in people without abnormalities, suggesting that these markers may reflect the presence of polyps.

Overall, the results suggest that measuring amino acids in stool or urine could eventually provide a less invasive way to help decide when colonoscopy is needed or to monitor people after polyp removal. However, this was an early exploratory study, and the findings need to be confirmed in larger, independent studies before these tests can be used in routine care.

https://onlinelibrary.wiley.com/doi/full/10.1002/ijc.70715?fbclid=IwY2xjawUEqg5wZG9mBWV4dG4DYWVtAjEwAGJyaWQRMEk2bjFBc3h1NlVnZU45cGVzcnRjBmFwcF9pZBAyMjIwMzkxNzg4MjAwODkyAAEe7ervbwDY3dMejIkdnG6XOWw7GlR2gfKRgP2CaCCfLYSzBx1uQRUM4iAY32I_aem_fuqarG4BfZfWZxv3hwGuqA

What we measure, we can improve.

Contemporary trials consistently achieve ADRs around 30% (including the recently published CADLY2 trial from Robert Hüneburg), supporting a provisional minimum ADR benchmark of 25% for colonoscopy surveillance in Lynch syndrome carriers with an intact or near-intact colon.

This is not an aspirational target, but a pragmatic starting point to identify underperformance, drive quality improvement, and ultimately test whether better colonoscopy translates into fewer post-colonoscopy CRCs.

Time to benchmark adenoma detection in Lynch syndrome surveillance.

https://www.thieme-connect.com/products/ejournals/abstract/10.1055/a-2934-4134

Validation is now feasible. The English National Lynch Syndrome Programme provides an ideal platform, combining systematic carrier identification, standardised pathways, and prospective data capture.

It could determine whether ADR, alone or integrated with other indicators, predicts PCCRC in real-world surveillance. Such validation should predefine eligible procedures, account for clustering by patient and endoscopist, examine temporal changes, and evaluate whether improvement in ADR is accompanied by reductions in advanced neoplasia and PCCRC rather than merely increased detection of diminutive lesions over time.

The field should move beyond asking whether colonoscopy “works” in Lynch syndrome and define the measurable conditions under which it most effectively prevents cancer.