Tag: cancer

Prospective Lynch syndrome database

A prospective Lynch syndrome database is important because it allows researchers, clinicians, and policymakers to collect and analyse long-term, standardised data on people with Lynch syndrome (LS).

(Using Chat GPT)

📌 In short: A prospective Lynch syndrome database is essential because it produces high-quality, unbiased evidence on cancer risks, surveillance effectiveness, and preventive strategies, directly improving patient care and shaping clinical guidelines.

Here are the key reasons why it matters, based only on reliable clinical and research perspectives:

  1. Natural history understanding
    • Prospective data (collected forward in time) helps clarify the true risks of different cancers (colorectal, endometrial, ovarian, gastric, etc.) in Lynch syndrome carriers.
    • It reduces biases compared to retrospective reports, which often overestimate risks due to selective reporting of severe cases.
  2. Better risk stratification
    • Different mismatch repair (MMR) gene variants (MLH1, MSH2, MSH6, PMS2, EPCAM) carry different cancer risks.
    • A prospective database helps define more precise, gene-specific and even sex-specific risk estimates, which guide personalized surveillance.
  3. Evaluation of surveillance effectiveness
    • Prospective registries allow direct measurement of how colonoscopy intervals (e.g., every 1–2 years) affect cancer incidence, stage at diagnosis, and mortality.
    • They can test whether surveillance reduces advanced cancers, enabling evidence-based guideline updates.
  4. Assessment of preventive strategies
    • Allows evaluation of risk-reducing interventions such as aspirin (e.g., CAPP2/CAPP3 trials), prophylactic surgeries, or lifestyle modifications.
    • Can help identify who benefits most from preventive measures.
  5. Improved clinical counseling
    • Physicians and genetic counselors can give patients more reliable, individualized risk information, reducing uncertainty and supporting informed decisions.
  6. Data for health policy
    • National or international databases provide evidence for cost-effectiveness of surveillance and preventive programs.
    • This supports resource allocation and insurance coverage for Lynch syndrome management.
  7. Research opportunities
    • Creates a resource for studying modifiers of cancer risk (genetic, environmental, lifestyle).
    • Enables collaboration across centers and countries for rare cancers within LS populations.

https://plsd.eu

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:

Creation of a future European Network of National Cancer Mission Hubs (NCMHs)

ECHoS is an European project, funded by Horizon Europe Programme, that aims to support the implementation of the Cancer Mission activities in all Member State and Associated Country (MS/AC) through the establishment and development of National Cancer Mission Hubs (NCMHs) operating at national, regional, and local levels. By establishing NCMHs in each MS/AC, European citizens and organisations in health, research, and beyond, will be voiced and their voices will echo together.

ECHoS broad scope seeks to take cancer-policy dialogues beyond research and innovation, and health systems, covering also other relevant areas in cancer control and support, such as employment, education, and socioeconomic aspects.

To guarantee alignment and progress in the field of cancer, ECHoS will be guided by impacting subareas of Cancer Mission – namely prevention, early detection and treatment, quality of Life and survivorship – as well as equity, sustainability, and cross-cutting EU priorities such as social engagement and digital health.

http://www.cancermissionhubs.eu

The Project
The Project
The Project
The Project

EVERY STORY COUNTS

Especially on World Cancer Day.

Cancer is more than just a medical diagnosis—it’s a deeply personal matter. Behind every diagnosis lies a unique human story – stories of grief, pain, healing, resilience, love and more.

That’s why a people-centred approach to cancer care that fully integrates each individual’s unique needs, with compassion and empathy, leads to the best health outcomes.

Why is it so hard to….TREAT THE PERSON, NOT JUST THE DISEASE.

People living with cancer don’t always feel heard, seen, or understood. They might feel alienated and voiceless at a time when they’re also learning to navigate an unfamiliar and confusing health system, not to mention dealing with the emotional highs and lows of cancer diagnosis, treatment, or recovery.

People-centred cancer care represents an opportunity to refocus, rewire, and rewrite how we think about cancer, to embrace people’s differences, and to make sure that everyone is seen for who they really are and has access to the care they need. 

Colonoscopies – Why bother?

It just might save your life.

During my third colonoscopy colon cancer was discovered and it had advanced to my Lymph Nodes. I had no symptoms.

Why was I having colonoscopies? I had a family history of colon cancer and my sibling had tested positive for Lynch syndrome (an inherited predisposition to certain types of cancers including colon and endometrial.

I can understand why many people are nervous about getting colonoscopies. Some wonder how long a colonoscopy will take, how best to prepare for the procedure, how much time you’ll need to take off from work and how embarrassing or disruptive this important cancer screening procedure will be.

Why should people get colon cancer screenings?

The answer is simple: colon cancer screenings can detect colorectal cancer early and prevent unnecessary deaths. Colorectal cancers also are highly preventable and treatable if detected early. In fact, if doctors detect pre-cancerous polyps during a colonoscopy, they can remove the polyps during the procedure.

Prior to Colonoscopy:

Some may think…it’s not pleasant(although having had more than 15 to date I can say I do not find it so, but including the preparation, in most cases you’re spending less than 24 hours to help prevent cancer. 

Typically, people prepare for a colonoscopy in their homes the day or the night before along with amending their diet for a few days prior to the procedure. The Bowel preparation prescribed — which involves drinking a lot of water along with prep – can take a number of hours . That’s because you’ll be peeing and pooping out all the waste from your body, so you’ll have a clean, empty colon.

Colonoscopy Procedure:

The actual procedure is quick – usually less than 30 minutes. The doctor inserts a scope into your rectum. You are fully sedated prior to the start of the procedure and you wake up after it is over and you usually don’t remember any of the procedure. For nearly everyone, the actual colonoscopy is painless and relatively quick. You wake up, and you’re done. Aside from not being able to drive themselves home from the procedure, most people feel well and are able to eat and drink normally after a colonoscopy.

What are polyps and how common are they?

Polyps are like skin tags that form on the lining of the colon. Some of them are pre-cancerous, which means that over a period of time, they could become cancerous. So, when polyps are found during a colonoscopy, they can easily remove the vast majority of them. That’s how colon cancer is prevented through colonoscopy.”

https://www2.hse.ie/conditions/bowel-screening/colonoscopy-after-bowel-screening/

Primary Care Research into Cancer(PRICAN)

What is PRICAN?

Cancer represents a significant public health challenge in Ireland. Forecasts also indicate a potential doubling of cancer diagnoses between 2010 and 2040, primarily due to an ageing population. 

In recent years, there has been a shift in cancer control strategies towards prioritising prevention and early diagnosis, as the most cost-effective long-term approach to cancer control.

The National Cancer Strategy explicitly calls for an expanded role for general practitioners (GPs) in managing the entire cancer continuum, from prevention and early diagnosis to treatment and ongoing survivor support.

Despite its increasing importance in cancer control, primary care research has historically received less funding compared to laboratory and hospital-based research.

Whilst screening enables early detection of some presymptomatic cancer, approximately 85% of cancers are diagnosed after the onset of symptoms . This fact underscores the importance of equipping primary care with robust clinical guidelines and efficient referral pathways. 

The anticipated rise in cancer incidence demands proactive measures to strengthen the Irish healthcare system. By recognising the critical role of primary care across the cancer care continuum, and adopting a strategic approach to investment in research, Ireland can develop and implement evidence-based policies and strategies. This approach will not only mitigate the impacts of increasing cancer incidence but also position Ireland at the forefront of innovative and effective cancer care.

https://prican.eu

Know your family history

Many men with cancer in the family worry that they are at greater risk of getting it themselves. But this isn’t the case for most people. Cancer is a common disease among older people, so most families will include at least one person who has had cancer.

The more relatives who have had cancer, and the younger they were at diagnosis, the stronger your family history. You may have a strong family history if any of these situations apply to you:

  • More than two close relatives on the same side of your family have had cancer.
  • The cancers developed when they were young (under the age of 50).
  • One of your relatives has had a gene fault found by genetic tests.

5 – 10% of cancers are linked to an inherited gene fault.

What should I do if I have a family history of cancer?

Talk to your doctor who can help you find out if your family history of cancer is of concern. Your doctor may suggest that you visit regularly for screening. In this way, you can pick up problems early.  

https://www.independent.ie/life/health-wellbeing/health-features/cancer-in-the-family-our-sister-was-adopted-to-america-if-we-hadnt-found-her-my-brother-and-i-could-have-died-of-cancer/a680132515.html

No other landscape in medicine has changed as drastically as the field of Clinical Genetics – Is Ireland behind the curve?

Advances in technology have been a major driver of the explosion of knowledge in genetics, now allowing us to sequence the entire human genome in a short period of time and at a fraction of the cost of previous years.

This has led to a better understanding of the natural history of cancer, the ability to assess genetic risk for cancer across populations, the development of clinical management strategies to reduce cancer risk, the development of novel therapeutic agents which target genetic alterations, and to improved education of patients and providers about genetic risk.

Hereditary cancer is hard enough to navigate, so we are thankful for patient-friendly information to help inform the decision-making process.

https://www.stjames.ie/cancer/yourtreatmentandcare/servicesandtreatments/cancergeneticsservice/

Genetic testing is a vital tool in enabling individuals to be proactive in their health care to achieve the best possible outcomes.

It’s very important for everyone to understand their cancer risks based on their personal or family history since their personal risk level may necessitate earlier, more frequent, and/or more intensive cancer surveillance.

This is the best way to ensure that you are doing everything you can to prevent cancer or catch it early when treatment has the best outcome.

At present cancer genetics services in Ireland are underdeveloped and underfunded. Only a fraction of staff required are in place. As a result long waiting times, extra cost to the state because cancers are not prevented and discovered at a later stage.

Cancer Genetic Appointments

During your appointment, a member of the team will confirm your family history/ family tree details with you and may ask about other medical conditions in your family (where known).

If a cancer genetic alteration (gene fault) exists in your family, or there is a possibility of an inherited genetic alteration, our team will discuss the condition and outline the choices and options available to you.

What is ‘Diagnostic Cancer Genetic Testing’?

Diagnostic cancer genetic testing is helpful when an individual with cancer is unaware of whether a gene alteration is present within their family. A blood test can be taken either from you or an eligible family member (i.e. the blood test must be taken from someone with cancer), to identify any alteration (gene fault) in your DNA. If a cancer gene alteration exists, it may be responsible for causing cancer in you, and/ or in other family members.

What is ‘Predictive Cancer Genetic Testing’?

If a cancer gene alteration is identified in your family, you may opt to undergo a predictive cancer genetic test to determine if you carry your family’s alteration, using a blood sample taken from you.

https://www.stjames.ie/cancer/yourtreatmentandcare/servicesandtreatments/cancergeneticappointments/

The increasing role of cancer genetic counsellors

November 14 was Genetic Counsellor Awareness Day in Ireland and around the world. It’s important to note that it is an ‘awareness’ day rather than an ‘appreciation’ day because genetic counselling is still an under-recognised field. Genetic counsellors are healthcare professionals who provide information and support to families and individuals who are at risk for or affected by a genetic condition.

We have 17 cancer genetic counsellors and two genetic counselling assistants at City of Hope to handle this volume. In contrast, there are five cancer genetic counsellors at St James’s Hospital in Dublin.

Dr O’Shea said the St James’s cancer genetic service welcomed Minister for Health Stephen Donnelly’s announcement of funding to implement the Hereditary Cancer Model of Care in 2025. Genetic counsellors are a key part of delivering optimal oncology care. To respond to the demand for access to cancer genetic testing and counselling, permanent funding for 20 cancer genetic counsellors in oncology care is required nationally to serve a population of 5.3 million people. Additionally, a step forward to increase the capacity of genetic counsellors in the Irish health system is a HSE-funded training pathway.

The increasing role of cancer genetic counsellors