Category: Prevention

COLORECTAL Screening in Europe(2019)

The barriers for screening: (have they changed?)

Despite the obvious value of colorectal cancer screening, many barriers exist that must be taken into account when setting up programmes:

• Patient barriers, such as fear, socio-demographic, psychosocial, economic or geographic factors as well as awareness, understanding or lifestyle.

• Health care providers’ barriers, including low screening recommendation, poor coordination and communication between patients and providers, or lack of follow-up.

• Health system barriers, including inadequate access, screening costs, test-specific factors or delays, as well as the capacity to move patients from screening to colonoscopy to effective treatment.

Click to access 466-Document-DiCEWhitePaper2019.pdf

Serendipity Strikes: How Pursuing Novel Hypotheses Shifted the Paradigm Regarding the Genetic Basis of Colorectal Cancer and Changed Cancer Therapy

Discoveries enabled better understanding of how the DNA mismatch repair (MMR) system not only recognises DNA damage but also responds to damage by DNA repair or by triggering apoptosis(cell death) in the injured cell. 

What has happened over the past 37 years was not predictable when this journey began, but it does speak to the power of careful scientific experimentation, following the facts, perseverance in the face of opposition, and the willingness to think outside of established paradigms.

The conclusion that CRCs with MSI responded differently to classical cytotoxic chemotherapy than did non-MSI CRCs and eventually, the key clinical paradigm shift was the discovery of ICT(Immune checkpoint therapy and its unique effect on tumours with MSI.

Some of these concepts required brilliant thinking and interpretation and others seemingly announced themselves after the correct understanding of an unexpected observation. Since this astonishing series of events unfolded over about four decades, there is hope that this remarkable progress will continue into the future.

https://link.springer.com/article/10.1007/s10620-023-08006-z#Sec18

Prospective Lynch Syndrome Database (PLSD)

The Prospective Lynch Syndrome Database (PLSD) is the largest worldwide database on Lynch Syndrome. 
PLSD collates information on carriers of pathogenic or likely pathogenic MMR variants (path_MMR) who are receiving medical follow-up, including colonoscopy surveillance, which aims to achieve early diagnosis and treatment of cancers.

plsd.eu

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The Six Questions Every Cancer Patient Should Ask Before Choosing Treatment

  1. What is the goal of the recommended treatment? Cure, prolong survival, maintain quality of life?
  2. What is my chance of achieving the goal if I do nothing?
  3. How does the recommended treatment improve the chance of reaching the goal?
  4. What are the side effects of the recommended treatment – many are minimal today?
  5. What is the role of clinical trials in the management of my cancer?
  6. If my cancer comes back, what is the goal and how should i best prepare for it now?

Until recently we thought of cancer as being defined by its location in the body – moving forward it will be defined by the cancer’s unique growth driving mutations and biomarkers. In effect, the genetics – biomarker define the cancer rather than the organ where the cancer began.

https://news.cancerconnect.com/treatment-care/the-six-questions-every-cancer-patient-should-ask-before-choosing-treatment?utm_source=CancerConnect&utm_campaign=9bbe0ef80f-EMAIL_CAMPAIGN_9_20_2018_13_9_COPY_02&utm_medium=email&utm_term=0_4403223c9e-9bbe0ef80f-381439095

Camidge and McVeigh Highlight the Role of the Clinical Geneticist Across Cancer Care and Research

Drs Camidge and McVeigh highlight the evolution of the clinical genetics field over time, the process of identifying pathogenic genetic variants, the difficulties of explaining genetic testing results to patients, and more.

https://www.onclive.com/view/camidge-and-mcveigh-highlight-the-role-of-the-clinical-geneticist-across-cancer-care-and-research

Lynch Syndrome? Why it’s important to know about it

Lynch syndrome is caused by an inherited mutation in one of these genes:

People with Lynch syndrome have an increased risk for colorectal, endometrial and other cancers. The cancer risk varies by gene mutation, therefore it is important for people with Lynch syndrome to know which gene mutation they have.

In the past, the risk-management guidelines were the same for people with an inherited mutation in any of the Lynch syndrome genes. As more research has shown different cancer risks for each gene, experts have started to separate the risks and medical options for each individual mutation. Despite these differences, some references discuss Lynch syndrome as though inherited mutations in these genes carry the same risks. 

If you have been told that you have Lynch syndrome, it is important to know which gene has a mutation, so that you can make informed decisions about your medical care. 

In the past, Lynch syndrome was also referred to as “hereditary nonpolyposis colorectal cancer” (HNPCC). This term has fallen out of favour because mutations in these genes also increase the risk for other cancers besides colorectal cancer. 

Methylated DNA Markers for Sporadic Colorectal and Endometrial Cancer Are Strongly Associated with Lynch Syndrome Cancers

Lynch syndrome (LS) markedly increases risks of colorectal and endometrial cancers. Early detection biomarkers for LS cancers could reduce the needs for invasive screening and surgical prophylaxis.

Prevention Relevance:

Methylated DNA markers previously identified in sporadic endometrial cancer and colorectal cancer discriminate between benign and cancer tissue in LS.

https://aacrjournals.org/cancerpreventionresearch/article-abstract/16/11/611/729696/Methylated-DNA-Markers-for-Sporadic-Colorectal-and?redirectedFrom=fulltext

Transforming the care of people with Lynch syndrome: a system-wide approach

Monahan et al describe progress in addressing the lack of diagnosis of Lynch syndrome in the English National Health Service with a bold attempt to fix a leaking pathway.

There remains much to do, not least inclusion of the many other tumour types seen in LS, but this programme has demonstrated the power of a national system of health provision and the willingness of the professional community to work together to improve the care of people with this common rare disorder.

https://bmjoncology.bmj.com/content/2/1/e000211

“Go ahead and screen” – advice to healthcare systems for routine lynch syndrome screening from interviews with newly diagnosed colorectal cancer patients

Conclusion: Our qualitative findings demonstrate patients with CRC have a strong desire for healthcare systems to regularly implement and offer UTS.

https://pubmed.ncbi.nlm.nih.gov/37978552/

Talking about Lynch Syndrome: Strategies for discussing with your children and family

https://mediasite.med.upenn.edu/mediasite/Play/715eda4a78244812936fee9f1779b4a41d?fbclid=IwAR1YFxzFeR3JZZh3C394ENf0KcFWU_IV7-SEM1R_nx3zZI8_nWd9mnBpDq8