Author: Lynch Syndrome Ireland

Roberta

I’ve been given the gift of information,while it can be physically & emotionally taxing, I can take steps to ensure colorectal cancer doesn’t end my life.I can help others have the courage to get tested & go for screening if they notice a change.

When asked what she wanted people to take away from her contribution to the Marie Keating Foundation’s #JoinTheBowelMovement campaign this April, Roberta’s message was simple.

“Firstly, get to know your family history and the signs and symptoms of bowel cancer. Secondly, if you are experiencing symptoms but don’t fit the idea in your mind of  “what a bowel cancer patient is”, speak to your GP about it anyway. And finally, if you’re eligible, go for BowelScreen. It’s so much easier to prevent than to cure, so if you were to take something away from my story, I would want it to be that.”

Roberta Horgan

Immunotherapy and… Nothing Else? Studies Test Potential Paradigm Shift in Cancer Treatment

The leaders of those trials and other experts stressed that much more research is needed before this treatment approach becomes part of everyday cancer care. But they agreed that the findings so far are highly encouraging.

The most recent results come from a 35-patient clinical trial conducted at MD Anderson Cancer Center. Most patients in the trial had locally advanced colorectal cancer. Perhaps most important, however, was that all participants’ tumors had specific genetic changes—known as MSI-high or dMMR—that make them particularly good candidates for immunotherapy.

https://www.cancer.gov/news-events/cancer-currents-blog/2023/neoadjuvant-immunotherapy-only-treatment?cid=eb_govdel&fbclid=IwAR26afNcex5ZbX6ocR6wmUfu-rD1T-Ieys82znoFWEYqjvrxOPu1YoigZB0

Review of governance arrangements to support HSE drug reimbursement process

The Report concluded that there is scope for improvements in a number of areas, including:

  • transparency of the process
  • communications with, and the availability of, information to patients
  • tracking the progression of medicines through the process

The Minister for Health fully supports any recommendations contained in the Report that improve the process, provide easier access, and support value for money.

Speaking on the publication of the report, Derick Mitchell IPPOSI CEO stated that ‘although long overdue, the publication of this report is an important step in the reform of our medicines access process in Ireland.  The report findings are sensible and practical, and need consideration in the Irish context.  The fact that many other countries, including our near neighbours in Scotland, have many of these reforms already in place is a cause for concern for many patient groups’, he said.

Click to access 20230223-Mazars-Report.pdf

IPPOSI looks forward to engaging with the new working group in 2023 as part of its consultation with patient groups. 

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