Category: Monitoring

Universal Germline and Tumor Genomic Testing Needed to Win the War Against Cancer: Genomics Is the Diagnosis

Universal germline testing may not only transform the outlook for those with traditional hereditary cancer syndromes but also identify a wider range of associations and penetrance for germline variants.

If we are serious about winning the war against cancer, we need to have every bit of intelligence about it, both to treat cancer and to detect it early. The potential impact of the host should be considered in every patient with cancer.

Applying universal germline testing to patients with cancer routinely is one of the major opportunities that can revolutionise precision medicine practice and is needed to win the war against cancer (and possibly many other diseases).

What About the Cost?

Many arguments against testing are centered around the cost. Yet, the cost of germline testing (and next-generation sequencing in general) has markedly decreased over the past decade. Furthermore, patients get repeat routine prevention testing (mammograms, computed tomography scans for lung cancer, colonoscopies, or laboratory tests), which are quite expensive, compared with one time hereditary testing cost, which may be invaluable for the patient over an entire lifetime and informative for their family.

In addition, the cost of the test must be weighed against the cost of expensive (and possibly futile) therapy the patient will be subjected to because this genetic information was not available in a timely manner.

https://ascopubs.org/doi/10.1200/JCO.22.02833

New Insights Into Metachronous Colorectal Cancer Risk in Lynch Syndrome

Background & Aims

Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome. The choice of extended or partial colectomy in patients with LS with primary CRC may influence the risk of metachronous CRC. This study aimed to identify factors associated with metachronous CRC risk and evaluate their potential implications for surgical decision-making.

Metachronous (CRC) is a new, separate primary cancer of the colorectum that develops after a patient has already been diagnosed with and treated for an initial CRC.

Conclusions:

This study identifies important risk factors for metachronous CRC in patients with LS, which may support personalised counseling regarding surgical strategies. The findings highlight the complexity of surgical decision-making and the need for individualised approaches. Further studies are required to refine risk stratification and evaluate long-term outcomes to optimise patient care.

https://www.cghjournal.org/article/S1542-3565(25)00638-X/fulltext

Does cancer run in my family?

Cancer in your family may be caused by an inherited genetic change if:

  • You have a close (‘first degree’) relative, such as a parent, brother, sister or child, who has been diagnosed with 2 separate cancers. For example, bowel cancer and endometrial (womb) cancer
  • 2 or more close relatives on the same side of your family have had the same cancer
  • You or one of your relatives have a cancer most commonly seen in the opposite sex (for example, male breast cancer)
  • You have Ashkenazi Jewish ancestry
  • You have had cancer at a younger age than commonly seen (for example, bowel cancer under the age of 50)

This list is a guide only. If any of the above points apply to you, it is possible, but not certain, that you have an inherited genetic cause for cancer in your family.

https://www.cancer.ie/cancer-information/about-cancer/cancer-and-genes

https://www2.hse.ie/conditions/lynch-syndrome/

Lynch Syndrome UK – New Website

Check out their newly launched version….lots of information that you might find useful.

https://www.lynch-syndrome-uk.org

The diagnostic accuracy of the faecal immunochemical test(FIT) for the detection of early-onset colorectal cancer: an age-stratified analysis in South West England

The faecal immunochemical test (FIT) is a diagnostic triage tool for patients presenting with clinical features of CRC in primary care, though its performance in individuals under 50 years is not well established.

Conclusions: FIT performs excellently for patients aged 40-49; however, it may not be used optimally in patients <40 years. A more targeted strategy is needed to guide investigation in younger patients.

https://pubmed.ncbi.nlm.nih.gov/40847011/

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

A Beginner’s Guide to Lynch Syndrome

https://www.mskcc.org/cancer-care/patient-education/managing-lynch-syndrome

Look Back & Track

The latest campaign from Andrex® and Bowel Cancer UK reveals 1 in 4 Brits (24%) won’t look at their poo, despite it being a natural and free health tracker. This partnership aims to change this, encouraging people to be less embarrassed, more in tune with their toilet habits and know what’s normal for them.  

The main symptoms to watch out for when tracking your poo are: bleeding from your bottom or blood in your poo, a change in your pooing habits (you might be going more or less often, or have diarrhoea or constipation that might come and go), losing weight but you’re not sure why or feeling very tired all the time but you’re not sure why, or a pain or lump in your tummy.

Having these symptoms doesn’t always mean you have bowel cancer, but it’s still important to find out what’s causing them. Even if you have just one of these, ask your GP for a simple test you can do at home. 

https://www.bowelcanceruk.org.uk/news-and-blogs/news/look-back-and-track/

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.