So, what does being authentic mean anyway? Is it just another one of those buzz words?
When you look around, there are various definitions, but words like reliable, genuine, trustworthy, and real are usually in there someplace.
Author: Lynch Syndrome Ireland
Colonoscopy screening in Lynch syndrome
https://link.springer.com/article/10.1007/s10689-023-00347-y
Evidenced-based modelling studies of gene and gender stratified populations suggest a start age and frequency later and less frequent, for MSH6 and PMS2 variant carriers (35 years and 2–3 yearly). The penetrance of MLH1 and MSH2 variant carriers on the other hand does not allow the later start time at least as agreed in most guidelines. This differential surveillance by gene is now being implemented in various guidelines around the world. Such prescription however needs prudent implementation given variable intragenic and even intravariant penetrance estimates in large studies. Note that the confidence intervals in these estimates is relatively large.
There is still the “here and now” which needs to engage carriers and optimize adherence to whatever scheduling is prudent and advised.
How do we do this?
First, registries. Registries keep track of carriers, can provide automated time alerts for the need to attend scheduling ….Registries save lives.
Secondly, patient navigators. Time and time again it has been shown that navigators personally chaperone carriers through the complexities of the healthcare system, to actually reach colonoscopy. They are worth their cost-benefit weight in gold at least in the syndromic scenarios we are discussing.
Thirdly, a pleasant experience helps maintain adherence – the least offensive and effective bowel preparation, a comfortable colonoscopic experience (sedation is important for adherence), and compassionate staff. Efficient throughput (less time for patients) on the day is also valuable. Bowel preparation regime should be personalized against previous experience.
Fourthly, the governance of the risk management service needs to be comprehensive (not just gastrointestinal), patient-centred, interactive with the patient navigators, general practitioners. associated familial cancer clinics (not losing opportunities for time and age appropriate cascade testing across the family), and hospital electronic medical records.
The current study amongst others is important if we are to benefit from the wealth of science that has been uncovered in the understanding of familial cancer. Minimizing the burden of colonoscopies is an important variable, warranting that debate herein described.
Family history of Colorectal cancer – what’s next?
Expert Guest Kevin Monaghan,Gastroenterologist from @StMarksGenomics with an interest in hereditary bowel cancer.
8th UEG Talks #Podcast episode!
http://ueg.eu/podcast Listen to our esteemed host,
@pradeepmundre, and expert guest
New Drug Combo Shows Promising Results Against Early Stages Of Colorectal Cancer
What’s noteworthy about this result is that the patients here, like about 85% of colorectal cancer patients, have what are called “mismatch repair proficient” cancers, which produce highly mutated tumor cells that typically do not respond to immunotherapy. What’s more, Kasi added that based on the results, it may be possible to reduce or even eliminate the need for chemotherapy after surgery, which would otherwise be standard in these kinds of cases.
Lynch Syndrome: Q & A
#Dip4GODay & #WorldGODay
Precision medicine built in Zurich keeps patients in the LOOP
Despite incredible strides taken in cancer medicine over past decades, many patients endure a prolonged journey of trial and error, searching for the treatment that fits their unique needs. Cancer researchers now shift their focus to precision oncology. This method delves into the intricate details of each patient’s cancer, uncovering specific mutations and molecular mechanisms. The goal is to develop personalized, tailored treatments, ensuring that the right drugs are given at the right time.
Cross-institutional and cross-disciplinary approach allows synergies between the researchers, and more efficient use of resources.
“The direct challenge is the fact that cancers are heterogenous, and the metastatic tumour often has a different molecular profile to the original,” says Beck Schimmer. This means that each tumour is like a rare disease, making it hard to stratify patients for clinical trials or for treatment.
“The indirect challenges include the legal, ethical and security issues with the vast quantities of data, along with the costs,” she adds. “We can’t change the indirect challenges, but we can support the research.”
Neoadjuvant Immune Checkpoint Inhibitor Therapy for Localized Deficient Mismatch Repair Colorectal Cancer
Colorectal cancers (CRCs) with deficient DNA mismatch repair (dMMR) account for 15% of all CRCs. Deficient MMR is a predictive biomarker associated with responsiveness to immune checkpoint inhibitors (ICIs) in solid tumors, including CRC. The remarkable effectiveness of ICIs in metastatic CRC has led to their evaluation in the neoadjuvant and adjuvant treatment of localized disease.
Conclusions and Relevance:
While this review found that early results of neoadjuvant immunotherapy for localized dMMR CRC show high rates of major and complete pathological response, longer-term follow-up data are needed to ensure that oncologic outcomes are not compromised and are ideally improved. Neoadjuvant ICI therapy in localized dMMR CRC represents a potential paradigm shift with implications for organ preservation.
https://jamanetwork.com/journals/jamaoncology/article-abstract/2809269
Do you know a child who has been bereaved by cancer?
The Irish Cancer Society has partnered with Barretstown to run a camp, from Sept 29th – Oct 1st, helping children who have lost a parent to cancer.
Please contact Amy Nolan at anolan@irishcancer.ie for more info
Early detection of cancer
Early detection of cancer makes treatment more likely to be successful.
Here’s a reminder of some of the most common signs & symptoms. Remember, these signs can be linked to other conditions too, but it’s important to talk to your GP if they persist for 3 weeks or more
https://x.com/BreakthroCancer/status/1702698796801556671?s=20
Lynch Syndrome Ireland 