Author: Lynch Syndrome Ireland

Lynch syndrome confers an inherited genetic predisposition — but environmental and lifestyle factors also influence how that risk is expressed. 

Current evidence indicates that chronic inflammation may contribute to tumour development in mismatch repair-deficient cells. Modifiable factors — including regular physical activity, avoiding tobacco, and a diet high in fibre and low in processed meat — may therefore support risk reduction.

These measures complement, but do not replace, established clinical surveillance.

In Lynch syndrome, colorectal cancer receives the most attention — but gynaecological risk requires equal clinical vigilance. 

For women with Lynch syndrome, the lifetime risk of endometrial cancer is substantially elevated and varies according to the gene affected, reaching up to 40–60% in carriers of pathogenic MLH1 and MSH2 variants. Endometrial cancer is frequently the first, or ‘sentinel’, cancer diagnosed.

Awareness of early symptoms — including abnormal or postmenopausal bleeding — together with adherence to established surveillance guidelines, supports earlier diagnosis. PREDI-LYNCH incorporates gynaecological clinical data so that predictive models reflect risk in women accurately.

As more people survive cancer and live longer, understanding the long-term effects of cancer and its treatment becomes increasingly important.

Using data from The Irish Longitudinal Study on Ageing (TILDA), researchers from the Trinity St James’s Cancer Institute, School of Medicine, Trinity College Dublin and TILDA examined physical function among community-dwelling adults aged over 50 with and without a history of cancer.

🔵 Recent cancer survivors were almost twice as likely to report a physical performance limitation.

🔵 Long-term cancer survivors had more than twice the risk of osteoporosis, highlighting an increased risk of falls, fractures, and loss of independence.

🔵 Cancer survivorship has a lasting burden on functional independence that persists past diagnosis and treatment.

https://www.sciencedirect.com/science/article/pii/S1879406826001918

It’s about bringing the patient voice, lived experience and perspective into cancer research and science.

Places still available for the first ever programme in Ireland. The programme is free to attend, with all accommodation, meals and training costs covered to ensure an inclusive and accessible learning environment.

WHY ATTEND?

People living with and beyond cancer hold vital knowledge and experience, yet many face barriers that limit their involvement in research and decision making. These can include unfamiliar scientific language, lack of confidence or structural imbalances within healthcare and research systems.

https://www.aicri.org/voice-ireland

Highlights

• Gene-specific cancer risks in Lynch syndrome (LS) warrant individualised counselling.
• Personalised risk-reducing strategies should be offered to LS carriers.
• Hormone therapy may be considered for LS carriers with a personalised risk–benefit.
• Reproductive and assisted reproduction issues should be discussed with LS carriers.
• These Statements guide LS management, including addressing areas of uncertainty.

In the general female population, Endometrial Cancer and Ovarian Cancer lifetime risk is estimated to be 2.7% and 1.6%, respectively, while for LS women, the risk is significantly higher, up to 45.7% for EC and 13.4% for OC.

Additionally, LS women typically experience an earlier onset, often before 50 years. However, the estimated cumulative risks of EC and OC by age 40 remain low (1.1–2% for EC and 1.1–1.6% for OC). By age 75, the risk of developing EC in MLH1, MSH2 and MSH6 PVs/LPVs carriers increases to 45.7%, and the risk of OC reaches 13.4%. In contrast, carriers of PMS2 pathogenic variants have substantially lower risks (21.2% and 2.5% for EC and OC, respectively).

https://www.sciencedirect.com/science/article/pii/S0959804926005204

Why genetics is changing cancer care:

A big part of my work is around genetic risk. About 12% of cancers have a known underlying DNA alteration which, over a lifetime, will increase cancer risk.

They’re the population I really want to identify in my clinic because they’re women and men who may develop cancer under the age of the national screening programmes.

They won’t be picked up through screening in the majority of cases.

I developed mainstream testing pathways in Vincent’s. It’s the first hospital in Ireland bringing genetic testing for high-risk patients to an earlier point of care across breast, ovarian, pancreatic, prostate and GI cancers.

A healthy person who’s doing all [the right things] can still develop cancer. One in two people in Ireland, during their lifetime, will have a cancer diagnosis.

Lynch syndrome for example, [an inherited genetic condition] which is pretty common in Ireland, increases uterine cancer(as well as other risks) risk for a woman by up to 50%, depending on the variant. It’s an area where there’s a lot of clinical research, which is a real positive because, for many years, there hadn’t been as much by way of clinical trials or new treatment opportunities for women. We’re seeing a big change now and a lot of new drug options coming online.

Being an oncologist has made me more aware of what is within my control and what’s outside my control.

People are living longer with cancer. If it’s not curable, it can still be treated.

https://www.irishexaminer.com/lifestyle/healthandwellbeing/arid-41895703.html

https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2026.1870123/full

Conclusion: 

This needs analysis highlights the importance of specialised clinical pathways, for early onset GI cancer patients focusing on these unique and complex needs.

Financial supports, conversations regarding sexual health/function, fertility preservation and psychosocial support are critical areas requiring structured intervention.

https://lnkd.in/p/dfy8BfAt

This week, seven years ago, time seemed to stop.

“You have tumour on your pancreas.”
“You have cancer.”

Those words changed everything, on 7th Dec 2018, in that moment, I genuinely thought it was game over, I couldn’t see beyond the fear, the uncertainty or what was about to come.

But today, seven years later, thanks to Whipple surgery on 15.08.2019, I want to focus on hope 🫶🏼 not because the journey was easy, or that every day since has been straightforward, but because a diagnosis is a moment in time: it does not have to be the end of your story.

If you are sitting somewhere today hearing those words for the first time, I hope you can hold onto one thing: you don’t have to know how your story ends today

Take the next breath, the next step, and let tomorrow come. Seven years ago, I thought it was “game over.” Today, I’m here, and I’m using my voice to help make the path a little less frightening for those who come after me.

FRANK’S CANCER STORY: MY LYNCH SYNDROME

Frank’s Cancer Story: My Lynch Syndrome

In layman’s terms, having the Lynch mutation means you do not have the genes required to repair mistakes made during DNA replication. In other words, the Lynch mutation does not cause cancer per se, but it renders one significantly more vulnerable to getting cancer.

Importantly, Lynch is a hereditary syndrome. If one parent has the Lynch mutation, there is a 50% chance that it will be inherited by a child. 

It’s been a tortuous and torturous path, but I’m still here because of that “routine” colonoscopy at age 50. I’m still here because I pushed to have that lesion on my back biopsied. I’m still here because I got referred to a genetic counselor. I’m still here because the genetic counselor referred me to a cancer geneticist. And I’m still here because I’ve been doing some simple (not to be confused with easy) things required to nip most Lynch cancers in the bud.

Message: If you do the appropriate surveillance, most Lynch cancers can be prevented or cured in the early stages… and all the numbers are on your side.

if you discover that you or a loved one has Lynch Syndrome, don’t freak out.

Realise that such knowledge—as upsetting as it—is power. The power to design a surveillance program with your doctors that will enable you to “stay ahead” of the most common types of Lynch cancers, and thus to swing your odds of living a relatively long and healthy life hugely in your favor.

By the way, I (Frank) am talking because I know. I’ve been there and still am here because I’m armed with knowledge and a plan that works.