Category: Screening
Lynch Syndrome Across a Lifetime
Basics of Lynch Syndrome
PREDI-LYNCH project
PREDI-LYNCH sets out to make a difference for people with Lynch syndrome (LS) by developing and implementing novel, non-invasive early detection methods for colorectal, endometrial and urothelial cancers in patients with LS. The research team addresses an unmet medical need in providing an innovative approach to biomarker discovery for early-stage cancers in LS patients.
PREDI-LYNCH will focus on improving cancer surveillance in LS to detect cancers at an early stage, utilising effective and minimally invasive strategies, so as to improve patient outcomes and compliance.
- Develops non-invasive liquid biopsy tests for early cancer detection in individuals with Lynch syndrome.
- Combines artificial intelligence, biomarker technology, and clinical expertise to improve the quality of life and healthcare for at-risk groups.
- Is a collaborative consortium involving 28 organisations from 16 European countries.
- Received €13.6 million in Horizon Europe funding. Horizon Europe is the EU’s key research and innovation funding programme aimed at promoting scientific breakthroughs and collaborations to solve global challenges.
- The project will begin in June 2025 and end in summer 2031.
InSight
The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) is a multidisciplinary scientific organisation, whose mission is to improve the care of patients and families worldwide with any hereditary condition resulting in gastrointestinal tumours.
They have nearly 300 members, including scientists, clinicians and other healthcare professionals, from all parts of the world.
Lynch Syndrome Risks
The Prospective Lynch Syndrome Database (PLSD) now provides the most accurate estimates of cancer risks in LS, both in individuals who have yet to develop a cancer and those who have survived a cancer. An individual’s risks can be found according to their age, gender and the underlying gene.
Lynch syndrome-related tumours include:
- Colon and rectal cancer
- Endometrial cancer
- Small intestine cancer (MSH2 & MLH1)
- Hepato-biliary and pancreatic cancer (MSH2 & MLH1)
- Gastric cancer (MSH2 & MLH1)
- Ovarian non-serous cancer (MSH2 & MLH1)
- Renal pelvis and ureter cancer (MSH2 & MSH6)
- Bladder cancer(MSH2 & MSH6)
- Sebaceous gland cancer (and adenoma – Muir-Torre syndrome)
- Prostate cancer (MSH2)
- Breast cancer (MLH1)
- Central nervous system cancer
The risks associated with some EPCAM deletions appear not to be restricted to GI cancers.
Lynch Syndrome: Similarities and Differences of Recommendations in Published Guidelines
ABSTRACT:
Background: In this review, we aimed to compare the recommendations for Lynch syndrome (LS).
Methods: We compared the LS’s guidelines of different medical societies, including recommendations for cancer surveillance, aspirin treatment, and universal screening.
Results: Most guidelines for LS patients recommend intervals of 1–2 years for performing colonoscopy, though there is disagreement regarding the age to begin CRC screening (dependent on status as a MLH1/MSH2 or MSH6/PMS2 carrier). There are inconsistencies between LS guidelines for gastric cancer surveillance. Most guidelines do not recommend routine surveillance of the pancreas and small bowel. Most but not all of the guidelines support endometrial and ovarian surveillance with trans- vaginal ultrasound and endometrial biopsy. Only two societies recommend urological surveillance, while others recommend surveillance among high- risk carriers with family history only. There is significant disagreement between the guidelines about the recommendation for limited or extended bowel resection among patients with CRC. Aspirin use is recommended by most societies, though some with reservations, and most of them recommend universal screening.
Conclusions: There are significant disparities and disagreements in the guidelines and recommendations for patients with LS, causing confusion and difficulties for clinicians. Harmonisation and cooperation are needed between the societies creating LS guidelines.
Lynch Syndrome
Lynch syndrome increases the risk of a number of cancers. In general, the risk is highest for colorectal (bowel) cancer, but it depends on the gene affected.
Some colorectal (bowel) cancers are hereditary. Up to 5 people out of every 100 diagnosed with bowel cancer have Lynch syndrome. Other cancers linked to Lynch syndrome include:
- Endometrial (womb)
- Urothelial (kidney, ureter bladder)
- Ovarian
- Stomach
- Small bowel
- Bile duct/gall bladder
- Brain
- Pancreas
- Prostate
- Skin
The ins and outs and ups and downs of a colonoscopy
Going for a #colonoscopy?
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HSE National Clinical Guideline: Active surveillance for patients with prostate cancer
Scope: The scope of the guideline is to provide clinical recommendations on the active surveillance of patients with prostate cancer. Any other treatment was considered to be out of scope.
Summary of National Clinical Guideline
This National Clinical Guideline contains evidence-based recommendations.
This guideline is for patients diagnosed with prostate cancer whose cancer may be suitable for “active surveillance”. Active surveillance is where you watch patient’s cancer closely and only start treatment if test results show it is getting worse. The document explains which patients’ prostate cancer can be managed with active surveillance. It also outlines the tests used to monitor the cancer during active surveillance and how often to get the tests.
It covers:
which patients are suitable for active surveillance enrolment
what type of tests should be included on an active surveillance protocol
how often should patients receive each test on an active surveillance protocol
when should a patient switch from active surveillance to a different treatment
The document also describes the changes in test results that may lead to switching to a different treatment. Ask your doctor or any member of your treating team if you want to know about your test results or treatment options.
Lynch syndrome for the gynaecologist (Nov 2020)
Key content
- Lynch syndrome is an autosomal dominant condition closely associated with colorectal, endometrial and ovarian cancer.
- Women with Lynch syndrome are at increased risk of both endometrial and ovarian cancer and should be offered personalised counselling regarding family planning, red flag symptoms and risk-reducing strategies.
- Surveillance for gynaecological cancer in women with Lynch syndrome remains controversial; more robust data are needed to determine its effectiveness.
- Universal testing for Lynch syndrome in endometrial cancer is being adopted by centres across Europe and is now recommended by the National Institute for Health and Care Excellence; thus, gynaecologists must become familiar with testing strategies and their results.
- Testing strategies involve risk stratification of cancers based on phenotypical features and definitive germline testing.
Lynch Syndrome Ireland 