Category: Uncategorized

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.

𝗟𝘆𝗻𝗰𝗵 𝗦𝘆𝗻𝗱𝗿𝗼𝗺𝗲

A new review in the Journal of Medical Genetics examines an important question: 𝗛𝗼𝘄 𝗲𝗳𝗳𝗲𝗰𝘁𝗶𝘃𝗲 𝗶𝘀 𝗿𝗲𝗴𝘂𝗹𝗮𝗿 𝗰𝗼𝗹𝗼𝗻𝗼𝘀𝗰𝗼𝗽𝘆 𝗮𝘁 𝗽𝗿𝗲𝘃𝗲𝗻𝘁𝗶𝗻𝗴 𝗰𝗼𝗹𝗼𝗿𝗲𝗰𝘁𝗮𝗹 𝗰𝗮𝗻𝗰𝗲𝗿 𝗶𝗻 𝗟𝘆𝗻𝗰𝗵 𝘀𝘆𝗻𝗱𝗿𝗼𝗺𝗲?

The answer is more complicated than we once thought.

𝗪𝗵𝗮𝘁 𝗱𝗼𝗲𝘀 𝘁𝗵𝗲 𝗲𝘃𝗶𝗱𝗲𝗻𝗰𝗲 𝘀𝗵𝗼𝘄?

Regular colonoscopy has a 𝗰𝗹𝗲𝗮𝗿 𝗯𝗲𝗻𝗲𝗳𝗶𝘁 𝗶𝗻 𝗿𝗲𝗱𝘂𝗰𝗶𝗻𝗴 𝗰𝗼𝗹𝗼𝗿𝗲𝗰𝘁𝗮𝗹 𝗰𝗮𝗻𝗰𝗲𝗿 𝗱𝗲𝗮𝘁𝗵𝘀. However, it may not completely prevent colorectal cancer from developing.

Lynch syndrome cancers can sometimes develop through an 𝗮𝗰𝗰𝗲𝗹𝗲𝗿𝗮𝘁𝗲𝗱 𝗽𝗮𝘁𝗵𝘄𝗮𝘆 that bypasses the typical polyp → cancer sequence. Some cancers may develop without a conventional, easily detectable precursor polyp.

That means someone can follow recommended surveillance and still develop colorectal cancer.

𝗧𝗵𝗶𝘀 𝗗𝗢𝗘𝗦 𝗡𝗢𝗧 𝗺𝗲𝗮𝗻 𝗰𝗼𝗹𝗼𝗻𝗼𝘀𝗰𝗼𝗽𝘆 𝗶𝘀𝗻’𝘁 𝘄𝗼𝗿𝗸𝗶𝗻𝗴.

Surveillance can help detect cancers 𝗲𝗮𝗿𝗹𝗶𝗲𝗿, when they are more treatable, helping reduce colorectal cancer mortality.

The review highlights ways to improve surveillance, including:

🔹 High-quality colonoscopy
🔹 Gene-specific surveillance intervals
🔹 Chromoendoscopy & AI-assisted detection
🔹 FIT testing between colonoscopies
🔹 Aspirin chemoprevention
🔹 Biomarker-guided strategies
🔹 Continued research

And remember: 𝗟𝘆𝗻𝗰𝗵 𝘀𝘆𝗻𝗱𝗿𝗼𝗺𝗲 𝗶𝘀 𝗻𝗼𝘁 𝘁𝗵𝗲 𝘀𝗮𝗺𝗲 𝗳𝗼𝗿 𝗲𝘃𝗲𝗿𝘆𝗼𝗻𝗲. Cancer risks can differ between 𝘔𝘓𝘏1, 𝘔𝘚𝘏2, 𝘔𝘚𝘏6, and 𝘗𝘔𝘚2 carriers.

𝗧𝗛𝗘 𝗧𝗔𝗞𝗘𝗔𝗪𝗔𝗬:
Keep your recommended surveillance appointments. Colonoscopy remains an essential tool for Lynch syndrome, and the evidence strongly supports its ability to 𝗿𝗲𝗱𝘂𝗰𝗲 𝗰𝗼𝗹𝗼𝗿𝗲𝗰𝘁𝗮𝗹 𝗰𝗮𝗻𝗰𝗲𝗿 𝗱𝗲𝗮𝘁𝗵𝘀.

📖 𝗥𝗲𝗮𝗱 𝘁𝗵𝗲 𝗳𝘂𝗹𝗹 𝗿𝗲𝘃𝗶𝗲𝘄:
https://jmg.bmj.com/content/63/6/337.abstract

It is the condition under which the rest of what we do works properly.

Every clinician has a version of this. Mine involves a woman with a complex abdominal history, three prior operations in two hospitals, and a discharge summary that told me what had been done without telling me what had been found.

The information existed. It had been recorded carefully by competent people. It simply did not travel, and so a large part of that morning went on phone calls to reconstruct something that was already written down somewhere.

We tend to describe this as an interoperability problem, which makes it sound like a technical matter for other people. From where I sit it is a clinical safety issue with a measurable cost, paid in duplicated investigations, delayed decisions and the specific risk that comes from operating with an incomplete picture.

The part that troubles me is how normalised it has become. We have built local workarounds so effective that the underlying failure stops registering as a failure. The secretary who knows who to ring, the registrar who remembers which system holds the histology, the consultant who requests the scan again rather than chase the report. These are heroic and they are load-bearing, which is the problem.

A record that follows the patient rather than the institution is not a technical aspiration. It is the condition under which the rest of what we do works properly.
For those of you working across acute, community and primary care for the same patients, how much of your week goes on reconstructing information that already exists?

From LinkedIn…Conor Shields (Surgeon & Clinical Informatics Leader | Delivering Clinician-Centric EHR Solutions & Digital Health Programmes | Clinical Lead (Ireland) Dedalus)

New paper shows (perhaps counter-intuitively…) that more frequent colonoscopy in #LynchSyndrome does not reduce CRC incidence… however

Background: People with Lynch syndrome have a high risk of colorectal cancer, and regular colonoscopies are recommended to prevent or detect cancer early. However, the evidence supporting these recommendations has been mixed.

Study Goal: Researchers used data from 4,732 patients in the English NHS with Lynch syndrome to see how well they followed surveillance guidelines and what impact colonoscopies had on their risk of developing or dying from colorectal cancer.

Key Findings:

• Patients who had colonoscopies at intervals of three years or less showed a decrease in deaths specifically from colorectal cancer and from all causes combined. However, there was no change in the overall number of new colorectal cancer cases.
• Interestingly, patients undergoing colonoscopies at intervals of two years or less showed an increase in the total number of colorectal cancer cases, particularly early-stage ones. This might be due to detecting more cancers that wouldn’t have caused problems (overdiagnosis) or the short study period.
• The study noted that while reduced mortality was observed, it’s difficult to definitively attribute this solely to surveillance due to the observational nature of the study, which means other factors (selection bias) could be at play.

Conclusion: The benefits of surveillance colonoscopy for Lynch syndrome patients are still not fully clear. While regular checks might reduce mortality, the impact on cancer incidence is complex and might even lead to overdiagnosis with very frequent screening. The authors suggest that more rigorous studies, like randomized controlled trials, are needed to fully understand the effectiveness of this intervention.does reduce overall mortality.

https://gut.bmj.com/content/early/2026/08/06/gutjnl-2025-337379

Real-world Patterns of Genetic Testing in Urologic Malignancies: Guideline Recommendations Versus Clinical Practice

https://www.goldjournal.net/article/S0090-4295(26)00318-3/abstract

Of >125K eligible patients w/ cancer these had germline testing:
kidneycancer 9%
adrenalcancer 9%
UTUC 16%
bladdercancer 8%
prostatecancer 10%

100% of the above patients w/ urologiccancer met guideline eligibility for #genetictesting

Conclusion

Despite clear guideline recommendations, genetic testing remains underutilised across urologic cancers, with significant disparities by disease type, age, and race.

These results emphasize the importance of ongoing provider education, system-level support, and equity-focused strategies to enhance uptake of genetic testing in urologic oncology practice.

Somatic testing and germline testing are two distinct types of genetic analyses: somatic testing evaluates acquired mutations inside tumor cells, germline testing detects inherited mutations present in all healthy cells, and both provide vital insights for cancer treatment and risk assessment. 

https://s3-us-west-2.amazonaws.com/utsw-patientcare-web-production/documents/Somatic_vs_Germline_Fact_Sheet.pdf

While cancer can develop in anyone as a result of environmental factors or ageing, individuals with Lynch syndrome carry an inherited genetic variant that impairs the body‘s ability to repair DNA replication errors. This mismatch repair deficiency substantially increases the lifetime risk of developing colorectal, endometrial and other cancers, frequently at an earlier age than in the general population.

PREDI-LYNCH was established to address precisely this difference: standard screening protocols are not sufficient for high-risk families, and precision tools adapted to genetic risk are required.

Learn more at https://predi-lynch.eu/

What value do patient advocates and people with lived experiences bring to researchers, healthcare professionals, and industry during scientific conferences?

We remind them that scientific innovations should be focused on what truly matters to us-the patients-and that behind every piece of data is a person, a loved one, and a life that matters.

https://oncodaily.com/voices/patient-advocates-events-559174