Author: Lynch Syndrome Ireland

Gene-Specific Detection Rate of Adenomas and Advanced Adenomas in Lynch Syndrome

Colonoscopy is expected to reduce colorectal cancer (CRC) incidence in Lynch syndrome (LS) by detecting and removing adenomas. The existence of gene-specific differences in adenoma detection has been proposed yet remains insufficiently explored. This study aims to elucidate gene-specific adenoma detection rates and their association with post-colonoscopy CRC (PCCRC), which stands as an important issue in LS surveillance.

Conclusions

Carriers of MLH1/MSH2 pathogenic variants are at a higher risk of developing advanced adenomas(AAs) compared with those with MSH6/PMS2mutations, with MSH6 carriers exhibiting an intermediate risk profile. AAs are an independent risk factor for PCCRC. LS patients with AAs should be identified as high risk and undergo enhanced colonoscopy surveillance.

https://www.gastrojournal.org/article/S0016-5085(25)00650-X/abstract

World GO Day Planned Activities in Ireland

Map of World GO Day activities

Medical misogyny and “harrowing” experiences: what are doctors doing to improve outpatient gynaecological procedures?

Intrauterine procedures for outpatients, such as hysteroscopy, have attracted negative media and parliamentary attention for being poorly tolerated by some women, causing pain and even trauma.

In this BMJ feature, Adele Waters reports on how doctors are tackling the problem.

https://www.bmj.com/content/390/bmj.r1234

Occurrence of dMMR/MSI-H tumor during follow-up in Lynch syndrome patients treated with immune checkpoint inhibitors for metastatic digestive cancer

2015 and 2024: a retrospective analysis of a monocentric prospective cohort study

Highlights

Patients with LS treated with ICIs are at risk of metachronous dMMR/MSI-H cancers (8% of cohort).

The most frequent metachronous(occurring at different times) cancers observed were urothelial cancer and CRC.

Preneoplastic(state or lesion that occurs before the formation of a benign or malignant tumour) colorectal polyps developed in 39% of patients undergoing colonoscopies during follow-up.

Long-term surveillance is critical for LS patients post-ICI treatment.

https://www.esmoopen.com/article/S2059-7029(25)01428-0/fulltext

The Prospective Lynch Syndrome Database (PLSD)

Objective: Compiling existing information on carriers with pathogenic mismatch repair gene variants (path_MMR variants) associated with dominantly inherited cancer.

Aim: Describing associations between the path_MMR variants and cancer in any organ by age, gene and gender, and effects of interventions.

https://www.ehtg.org/plsd.php

Standing Up to Cancer with Lynch Syndrome

Key Takeaways
  • Lynch syndrome significantly increases cancer risk, necessitating vigilant health management through regular screenings and lifestyle choices.
  • Aspirin therapy may reduce colorectal cancer risk in Lynch syndrome patients, though no intervention guarantees complete protection.
  • Sharing experiences and translating medical research into actionable steps empowers others facing hereditary cancer risks.
  • Understanding cancer as a biological reality, not a personal failure, provides perspective and fosters acceptance and resolve.

https://www.curetoday.com/view/standing-up-to-cancer-with-lynch-syndrome

New UKCGG gene specific guidance

New UK Cancer Genetics Group(UKCGG) gene specific guidance to incorporate updated advice about risk-reducing aspirin.
For families with Lynch syndrome.

https://www.ukcgg.org/information-education/ukcgg-leaflets-and-guidelines/

Disease is what the body has, while illness is what the person lives with

Treating disease without attending to illness may succeed clinically but fail humanly. To practise medicine is not only to chart what the body endures, but to bear witness to what the person carries—and to recognise that both records belong in the same story.

https://open.substack.com/pub/patientvoicecollective/p/when-the-plan-succeeds-but-the-patient?utm_campaign=post&utm_medium=email

Closing the communication gap: The new priority in public health

The chasm of credibility between health scientists and the public has led to ongoing questioning of public health agencies and medical doctors. Some even wonder whether it is too late to close the gap.

Kristen Panthagani:  ‘Hey, we need to fix this.’

We need more clinicians and scientists communicating with the public, and to get there, we need to teach them how to do it.

Effective communication should emphasize empathy and clarity over jargon and dismissal

If you are a clinician or scientist interested in communicating with the public— is to just start, even if you’re still a student! 

https://ysph.yale.edu/news-article/closing-the-communication-gap-the-new-priority-in-public-health/