Author: Lynch Syndrome Ireland

Understanding MSI-High and DNA Mismatch Repair (dMMR)

MSI-H and Lynch Syndrome

Microsatellite instability which is caused by deficiency of the DNA MMR system is the molecular abnormality observed in tumors associated with Lynch syndrome. Lynch syndrome represents one of the most frequent conditions of cancer predisposition in human, thus requiring specific care and genetic counseling.

Detection of MSI is important because MSI is the biomarker that identifies cancers more likely to respond to treatment with precision cancer medicines known as PD-1 immune checkpoint inhibitors. 

https://news.cancerconnect.com/colon-cancer/understanding-msi-high-and-dna-mismatch-repair

A Cancer Journey: My Lynch Syndrome

 I hope will put a Lynch Syndrome diagnosis in the proper perspective and keep you and your loved ones alive.

First, do not bury your head in the sand…

If you have a family history of cancer–of the uterus, ovaries, bladder, ureter, kidney, stomach, small intestine, liver, pancreas, prostate, and oil glands (there may be others), take seriously the possibility that there is a hereditary component to such histories.

Especially–I repeat ESPECIALLY–if there’s a family history of colon or uterine cancer at a young age, talk to your doctors and get tested for Lynch.

And if you happen to test positive for the Lynch mutation, don’t hide it from your family. Because sharing that information may save others in your family as well.

Second, if you discover that you or a loved one has Lynch Syndrome, DON’T FREAK OUT!

https://frankjpeter.com/category/cancer/

Realise that such knowledge—as upsetting as it—invites you 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 healthy life hugely in your favor.

Harvard Model Identifies Women at High-Risk For Endometrial Cancer

Endometrial cancer is the most common form of uterine cancer and the fourth most frequent cancer diagnosis in women throughout the United States. A new study shines a light on recognizing high-risk individuals.

Key takeaways:

  • Endometrial cancer is the most common gynecological malignancy in the U.S., with mortality rates on the rise.
  • New research has produced a model that identifies those at increased risk of acquiring endometrial cancer.
  • Individuals with Lynch syndrome are more at risk of developing endometrial cancer.

https://healthnews.com/news/harvard-model-identifies-women-at-high-risk-for-endometrial-cancer/

European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender(2021)

Results

Recommendations for clinical and molecular identification of Lynch syndrome, surgical and endoscopic management of Lynch syndrome‐associated colorectal cancer, and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum. Manchester consensus guidelines for gynaecological management were endorsed. Executive and layperson summaries were provided.

Conclusion

The recommendations from the EHTG and ESCP for identification of patients with Lynch syndrome, colorectal surveillance, surgical management of colorectal cancer, lifestyle and chemoprevention in Lynch syndrome that reached a consensus (at least 80 per cent) are presented.

https://academic.oup.com/bjs/article/108/5/484/6287132?login=false

thisisGO – Lynch Syndrome

thisisGO.ie is an online personalised resource for you and yours who have been impacted by a gynaecological cancer.

Also an excellent resource for Lynch Syndrome.

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National Nursing Workshops: An introduction to Lynch syndrome & the national Lynch syndrome project(UK)

These workshops are aimed at nurses looking for an introduction to Lynch syndrome and the project, and will cover the basics.

A Guide to Lynch Syndrome

Lynch Syndrome 

Lynch Syndrome is an inherited condition that increases your risk of developing some cancers, including bowel, womb and ovarian cancer. We have developed a guide to run through everything you need to know about Lynch.

A Guide to Lynch Syndrome 

You can download a copy here

This guide has been made with input from experts, people with Lynch Syndrome and our Ask Eve nurses to provide you with all the information you need when offered testing for, or navigating a diagnosis of, Lynch Syndrome.  

We also have an Easy Read guide to Lynch Syndrome, which you can download here 

Lynch Syndrome