Author: Lynch Syndrome Ireland

The ins and outs and ups and downs of a colonoscopy

A colonoscopy is a test to look at your bowel using a small camera. 

Bowel preparation is required by taking a strong laxative. You will take this the day before the test to empty your bowel. The test works best when your bowel is empty and there is nothing to block the camera going into the bowel and having a look.

You will have to go to a hospital endoscopy unit to have the test.

The test is a day procedure.

The test is done by a doctor or an advanced practice nurse, called an endoscopist.

You will have a choice of doing the test with sedation or no sedation.

Generally the test can take up to 20 minutes.

Before you leave, you will be told what was seen during the test and if any samples were taken or if any polyps were removed. 

(Personally I have undergone aprox 15 colonoscopies and I can say that the preparation and procedure are worthwhile particularly if you have a family predisposition to cancer or have symptoms like blood in your stool. They have probably saved my life as during one of these procedures cancer was detected…I had no symptoms).

https://www2.healthservice.hse.ie/organisation/nss/news/the-ins-and-outs-and-ups-and-downs-of-a-colonoscopy/

Biology of Precancers and Opportunities for Cancer Interception: Lesson from Colorectal Cancer Susceptibility Syndromes

In this review, they focus on two of the best characterised syndromes, Lynch syndrome (LS) and familial adenomatous polyposis (FAP). 

The increasing knowledge of precancer lesions and their biology may aid novel strategies for individualized prevention. It is essential to consider the adverse effects of such interventions when weighed against quality of life, particularly considering the age at which medication may begin.

Exciting advancements are being made in the field of cancer vaccination against LS colorectal cancer, however until trials show their validity the recommended surveillance protocols must be upheld.

Extrapolating information from these hereditary colorectal cancer studies can also help pinpoint how certain sporadic cancers evolve and offer opportunities for cancer prevention.

https://aacrjournals.org/cancerpreventionresearch/article/16/8/421/728007/Biology-of-Precancers-and-Opportunities-for-Cancer?searchresult=1&sf181012032=1

Navigating Loss, Toxicity and Liberation: My Experience with Lynch Syndrome

….the importance of maintaining good mental health.

In these challenging times, my circle of friends became my lifeline. Their unwavering support guided me through this period of immense change. 

“Your diet is not only what you eat. It’s what you watch, what you listen to, what you read, and the people you hang around. Be mindful of what you put into your body emotionally, spiritually and physically.” 

The journey may be daunting, but it’s undoubtedly worth it.

https://www.curetoday.com/view/navigating-loss-toxicity-and-liberation-my-experience-with-lynch-syndrome

NICE publishes guidance on using Faecal Immunochemical Tests in primary care

The National Institute for Health and Care Excellence (NICE) have published new guidance on the use of a home test called faecal immunochemical test, known as FIT, in people with symptoms of possible bowel cancer.

Doctors have been advised by NICE to offer people with symptoms of possible bowel cancer a home test kit to help reduce waiting times for diagnostic tests, like a colonoscopy or flexi-sigmoidoscopy.

The new guidance will now see everyone with suspected bowel cancer receive a FIT kit.

Those with a positive result will be referred for a colonoscopy or other tests for further investigation. However, GPs can refer people for a colonoscopy without a positive FIT result if they think its necessary and where symptoms persist.

https://www.bowelcanceruk.org.uk/news-and-blogs/news/nice-publishes-guidance-fit-primary-care/

Physical Activity and Cancer

https://www.cancer.gov/about-cancer/causes-prevention/risk/obesity/physical-activity-fact-sheet#top

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We need a genomics-savvy healthcare workforce

Genetics has long been used in specific areas of medicine, such as for the diagnosis of rare diseases caused by pathogenic mutations or in the context of prenatal genetic testing; however, it is now diffusing across many domains of clinical practice.

The interpretation of clinical genetic information and its communication to patients are by no means trivial. In the case of genetic tests, for example, the ideal scenario is that the test provides information on whether the patient carries an actionable pathogenic variant.

The increasingly central role of genomics in healthcare means that not only are more genetic counselors needed, but also multidisciplinary teams are essential for utilising genomic technologies in the clinical setting.

A rapidly evolving genomic revolution is poised to shape the future of healthcare, but its full clinical potential can be realized only with the development of a multidisciplinary healthcare workforce capable of evolving to stay abreast of rapidly developing genetic technologies.

https://www.nature.com/articles/s41591-023-02522-1

Hereditary Cancer Model of Care

Worldwide prevalence of Lynch syndrome in patients with colorectal cancer: Systematic review and meta-analysis

Overall, 51 papers were included for the final analyses (N = 51). These studies included 49,557 participants with CRC. The studies reported LS prevalence across 18 countries. 

Our results demonstrate that universal germline testing as a diagnostic tool yields the best estimates of clinically meaningful germline pathogenic variants. 

Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome, with an estimated prevalence of 2% to 3% of CRC. A prevalence study is needed to provide accurate estimates of the true prevalence of LS.

https://www.gimjournal.org/article/S1098-3600(22)00030-2/fulltext#secsectitle0155

Outcome of Patients With Early-Stage Mismatch Repair Deficient Colorectal Cancer Receiving Neoadjuvant Immunotherapy: A Systematic Review

Systematic review to evaluate the outcome of patients with early-stage (stages I-III) mismatch repair deficient (dMMR) colorectal cancer (CRC) receiving neoadjuvant immunotherapy (NIT) with immune checkpoint inhibitor (ICI)–based regimens.

CONCLUSION

NIT in patients with early-stage dMMR CRC is associated with a high response rate, low primary resistance to immunotherapy and cancer recurrence rate, and an excellent safety profile. The findings of the present systematic review support further investigation of NIT in patients with early-stage dMMR CRC, with a particular emphasis on the organ-preserving potential of this strategy.

https://ascopubs.org/doi/abs/10.1200/PO.23.00182?role=tab&journalCode=po