Diagnosis and management of Lynch syndrome

Testing for Lynch Syndrome in all new diagnoses of colorectal or endometrial cancers is now recommended in the UK, and gastroenterologists can offer ‘mainstreamed’ genetic testing for LS to patients with cancer.

Because LS results in a high lifetime risk of colorectal, endometrial, gastric, ovarian, hepatobiliary, brain and other cancers, the lifelong care of affected individuals and their families requires a coordinated multidisciplinary approach.

Interventions such as high-quality 2-yearly colonoscopy, prophylactic gynaecological surgery, and aspirin are proven to prevent and facilitate early diagnosis and prevention of cancers in this population, and improve patient outcomes. 

A personalised approach to lifelong gene-specific management for people with LS provides many opportunities for cancer prevention and treatment which we outline in this review.

https://fg.bmj.com/content/13/e1/e80

FIT for Lynch Study

This research study is currently being offered in
several NHS Trusts within England and Scotland.

Contact: fitforlynchstudy@kcl.ac.uk

I have a VUS (Variant of Uncertain Significance) Now what?

When you agree to genetic testing, you expect a yes or no answer:  yes, you have an abnormal change in a gene that increases your cancer risk, or no, you don’t. But sometimes, you might not get a clear “yes” or “no.” You might just get a “maybe.”

Are genetic variants of uncertain significance common?

Almost 20% of genetic tests identify a VUS. These tests come in different “sizes.” Some examine only a handful of genes associated with cancer at a time, while others analyze up to 80 genes. The more genes you look at, the more variants of uncertain significance you’ll find.

https://www.mdanderson.org/prevention-screening/family-history/genetic-testing.html

Genetic testing for cancer: Why it makes sense

Genetic testing has several important implications in the management of cancer

Genetic testing is generally done for patients with a significant family history of cancer, or some specific patterns of presentation of cancer. If a causative germline mutation is identified, the individual’s family members are also screened for it.

Thus, a cancer patient who gets suitable genetic testing done also helps save lives of family members by making them aware of any causative mutation present in their genes.

https://www.firstpost.com/health/genetic-testing-for-cancer-why-it-makes-sense-11582751.html

MyLynch: Your Personal Cancer Risk

Help your Family by Sharing

MyLynch was built by cancer researchers and statisticians from the BayesMendel lab at Dana-Farber Cancer Institute and Harvard University to help people with Lynch Syndrome (LS) understand how their LS can increase the risk of different cancers and to show them what they can do to lower their risks.

Did you know:

1. Lynch syndrome cancers are preventable and can be caught early… if the person knows they have Lynch syndrome. Catching cancers early means saving lives.

2. Only 1 in 100 people with Lynch syndrome know they have it.

3. Your parents, siblings, and kids have a 50% chance of having Lynch; your grandparents, aunts, uncles, cousins, and grandchildren are also at risk.

Sharing your Lynch diagnosis with your family can save their lives. Almost all people with Lynch syndrome share their diagnosis with their parents, siblings, and children.

But…

Some people never tell their other relatives.

Save a Life

You could save the life of a family member if you choose to share your diagnosis.

Your doctor can help you make a plan to tell your family or you can use a website like Kin Talk (kintalk.org).

Lynch Syndrome- St Marks

Patient Information – 2019

  1. What is the chance of developing cancer if a faulty gene is found? Not everyone who carries a Lynch syndrome pathogenic variant will develop cancer. The risk of developing cancer is considerably lower in those who know they have Lynch Syndrome compared to those who have it but are unaware of the diagnosis.

What is Inherited Cancer?

Benefits and Drawbacks of Genetic Testing:

• Can identify those at risk of developing further cancer • Control/manage risks
• Can sometimes direct surgical/treatment options
• Explanation for why cancer had occurred

Psychological/emotional impact

Can allow predictive testing of other relatives


• Identify those at risk- appropriate screening/risk reducing surgery • Increased anxiety/worry and guilt

Colonoscopy withdrawal time and polyp/adenoma detection rate: a single-site retrospective study in regional Queensland

Bowel cancer is the second most common non-cutaneous cancer diagnosed in Australia among both genders. Colonoscopy withdrawal time of at least 6 min has been accepted as the standard to achieve the target polyp detection rate (PDR) and adenoma detection rate (ADR).

Conclusion

Colonoscopies with withdrawal times of less than 6 min did not achieve the target detection rates. It is clear that achieving the advocated withdrawal time for screening colonoscopy improves detection rates.

https://onlinelibrary.wiley.com/doi/abs/10.1111/ans.15652

Current practice of colonoscopy surveillance in patients with lynch syndrome: A multicenter retrospective cohort study in Japan

Current guidelines recommend that patients with Lynch syndrome should have colonoscopy surveillance every 1–2 years starting at the age of 20–25. However, insufficient data are available to evaluate the quality and safety of colonoscopy surveillance for patients with Lynch syndrome nationwide in Japan.

The proportion of patients developing cancer was significantly higher with a >24 months than a ≤24 months interval.

Conclusion

High-volume experienced endoscopists and appropriate surveillance intervals may minimize the risk of developing colorectal cancers in patients with Lynch syndrome.

https://onlinelibrary.wiley.com/doi/10.1002/deo2.179

Food and Cancer- Myths debunked

Food and Cancer- Myths debunked!

There is a lot of information available in relation to nutrition and cancer these days, and while often well-intentioned, it is not always based on scientific evidence.
Do you want to know if you should really be avoiding certain food groups? Increasing your intake of certain food groups?
This booklet aims to answer frequently asked questions….

Click to read the full booklet:
https://breakthroughcancerresearch.ie/the-truth-behind-food-and-cancer/