Category: Monitoring

Primary care: the ‘linchpin’ in Lynch syndrome

In most cases, a person will be diagnosed with Lynch syndrome following a cancer diagnosis.

People may also be identified with Lynch syndrome after a family member has been diagnosed with the condition (for example, cascade testing), or, less frequently, for those with a strong family history, by referral for genetic testing from their GP. 

Following a diagnosis of Lynch syndrome and treatment of any cancers, most of the contact for patients will be with the NHS Bowel Cancer Screening Programme and their primary care team.

Fragmentation of Lynch syndrome care

A persistent challenge reported by people with Lynch syndrome is a lack of consistent and coordinated health care to help support them to manage their condition generally.

Improved communication from secondary and tertiary care is needed to enable consistent coding of Lynch syndrome on patient health records and for primary care to fulfil its role as the ‘linchpin’ of comprehensive care.

https://bjgp.org/content/75/754/198

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.

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jgh.16881

Colorectal Cancer (Bowel Cancer) Risk Factors & Prevention

Certain inherited genetic syndromes: 

About 5–10% of people who develop colorectal cancer have inherited changes (mutations) in their genes (the functional units of our genetic material, also known as DNA) that can lead to them getting the disease. These are often associated with people having colorectal cancer at a younger age than average. The most common hereditary conditions leading to colorectal cancer are:

  • Lynch syndrome: This is the most common hereditary syndrome leading to colorectal cancer. It accounts for about 3–5% of all colorectal cancers. The lifetime risk of colorectal cancer in people with this condition is 20–70%.
Colorectal cancer: risk factors

Lynch Syndrome

https://www.cancer.ie/cancer-information-and-support/cancer-information/about-cancer/causes-of-cancer/cancer-and-genes/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:

https://www2.hse.ie/conditions/lynch-syndrome/

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  5. Reducing your risk of cancer
  6. Children and family planning

Metachronous colorectal cancer risks after extended or segmental resection in MLH1, MSH2, and MSH6Lynch syndrome: multicentre study from the Prospective Lynch Syndrome Database

According to the European Hereditary Tumour Group’s latest position report, LS is now considered an umbrella term for four distinct types of LS: MLH1 syndrome, MSH2syndrome, MSH6 syndrome, and PMS2 syndrome. These syndromes vary with regard to the age of onset of the associated cancers, sex predominance, and cancer incidence rates.

PLSD: Analysis of 8500 path_MMR carriers undergoing colonoscopic surveillance .

The aim of this study was to prospectively evaluate the risk of metachronous CRC, stratified by gene and the extent of the resection in previous surgery, contributing to the ongoing discussion on surgical strategies for LS patients.

https://academic.oup.com/bjs/article/112/4/znaf061/8113421?login=false&fbclid=IwY2xjawJwP6BleHRuA2FlbQIxMAABHstJO1twd022mBrfrcrADPLF_LfJZU6EJp7fqx9eDmpDHwkEOS6dzNDs9AkU_aem_PKKQVZ4ubPhaO9VyxUkRzw

Bowel Prep for Colonoscopy: Quality Matters

Bowel Prep Is Critical

When we talk about quality in colonoscopy, we’re referring to adenoma detection and sessile serrated lesion detection, along with the associated documentation that we perform. 

Achieving that level of quality is not just about writing a prescription for the prep and instructing your patients to follow through with it. Rather, it means providing guidance around diet modification and medication management and explaining the importance of the prep and how it is integral to colonoscopy performance.

It’s a shared responsibility. You, as well as your staff, need to take the time to discuss it with your patients.

Ensuring a quality prep is central to achieving our overall goals in colonoscopy and also in colorectal cancer prevention. Quality is what the patient should expect when a prep is prescribed. Referring physicians and healthcare providers should expect their patients to receive a high-quality colonoscopy prep. It’s our obligation as gastroenterologists to fulfill these expectations. 

https://www.medscape.com/viewarticle/bowel-prep-colonoscopy-quality-matters-2025a10007al?form=login

The ins and outs and ups and downs of a colonoscopy

Going for a #colonoscopy?

This popular blog answers your-most asked questions: how to get ready for the test, what you can and can’t eat, what happens and how long the test takes…

https://www2.healthservice.hse.ie/organisation/nss/news/the-ins-and-outs-and-ups-and-downs-of-a-colonoscopy/

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.

https://obgyn.onlinelibrary.wiley.com/doi/10.1111/tog.12706

HSE Health A-Z

https://www2.hse.ie/conditions/?fbclid=IwY2xjawJkYm5leHRuA2FlbQIxMQABHkFLUBpOydNbjldMlqnKhFD4QPIqKDYAcq9evuEd5_8reM0IMb1AqnvBNIVo_aem_MZRw4PsbrQDiYxV5n49fCA#L

Check out new addition on “Lynch syndrome” thanks to NCCP.

What is the Lynch syndrome registry? (UK)

Lynch syndrome can run in families. It increases your risk of being diagnosed with bowel cancer, as well as other cancers including endometrial (womb), ovarian, stomach, bladder, kidney, and skin cancers. This condition is diagnosed by having a genetic test.

The Lynch syndrome registry records and analyses important information about people with Lynch syndrome. This helps to understand how people with Lynch syndrome are looked after and cared for across England. All information is held on a secure and confidential computer database.

Why have a Lynch syndrome registry? 

The focus of the Lynch syndrome registry is to address the differences in access, quality and timeliness of regular check-ups that people with Lynch syndrome in England currently experience.

The registry will collect information from people with Lynch syndrome and help us to better understand how these people are currently being monitored and managed. 

https://www.40tude.org.uk/news/kevin-monahan-award-25

https://lynchregistry.org.uk/#:~:text=The%20Lynch%20syndrome%20registry%20records,secure%20and%20confidential%20computer%20database.