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FRIGE scientists initiate study on hereditary cancer
Identifying Lynch syndrome patients early on can be beneficial since there are several cancer screening and prevention strategies which can be used to reduce risk of developing cancer by half.
Considering the significant burden of this disease and opportunities to prevent cancers in these patients, the team at FRIGE lead by Dr. Harsh Sheth attracted funding to systematically study the prevalence of Lynch syndrome in cancers of oesophagous, stomach, liver, pancreas, small intestine and endometrium.
At this moment, we know very little about pan-cancer prevalence of Lynch syndrome and age-specific risk of cancers in the Indian population. It is astounding that Lynch syndrome can affect risk of cancers of oesophagous, stomach, liver, pancreas, small intestine and endometrium- which collectively is found in approximately 1 in every 8 patients seen in cancer clinics across India. Furthermore, it is remarkable considering that according to the WHO, nearly 1 in 300 people are estimated be Lynch syndrome carriers.
The study through its unique design will also collect data on patient’s lifestyle, diet and exercise, and will subsequently follow the patients for three years to see which factors contribute to the risk of cancer.
This would provide a tremendous opportunity to clinicians and genetic counsellors to offer personalised cancer surveillance and cancer risk reducing interventions to Lynch syndrome carriers of Indian origin.
The investigators through this study will provide the most comprehensive insight into the epidemiology and risk factors that contribute to cancer development in Lynch syndrome patients from India.
https://geneticcentre.org/news/frige-scientists-initiate-study-on-hereditary-cancer
Lynch Syndrome awareness week
Lynch syndrome is an inherited disease.
This means it is passed down from generation to generation, from parent to child. If one parent has Lynch syndrome and the other does not, there is a 50% chance that their child will have it.
It is among the most common hereditary cancer syndromes. It is estimated that 1 in 300 people have Lynch syndrome.
However, most people do not know they have it.
Indications that a family might have the disease is that on the same side of a family, there has been a diagnosis of cancer in multiple relatives. Besides, these cancers tend to appear at a young age.
This syndrome happens because of alterations passed down in genes that impact DNA repair, which is responsible for correcting cell DNA errors when copied. There are five genes implied in this, which are called:
- MLH1, MSH2, MSH6, PMS2 and EPCAM.
Having Lynch Syndrome doesn’t mean you will definitely get cancer, but it does significantly increase your risk. Those with Lynch Syndrome who do get cancer, often do so before the age of 50.
Life after cancer diagnosis
“I do not, however, consider myself to be a cancer survivor, and I do not hesitate to politely point this out to anyone who refers to me as one. ….. Generally, we prefer to be described as people who are living post-cancer (and indeed in some cases with cancer) and this subtle difference is very important, not just for us but for the all too many cancer patients who did not live to get the chance that we have.”
Finding a key word or phrase to replace survivor in the context of cancer is a regular discussion topic among healthcare professionals, patient representatives, researchers, counsellors and of course cancer patients. We are still searching.
Any ideas?
https://www.irishtimes.com/opinion/letters/2024/03/13/life-after-cancer-diagnosis
Germline Cancer Susceptibility Gene Testing in Unselected Patients With Colorectal Adenocarcinoma: A Multicenter Prospective Study
Hereditary factors play a role in the development of colorectal cancer (CRC). Identification of germline predisposition can have implications on treatment and cancer prevention.
Conclusions:
Universal multigene panel testing in CRC was associated with a modest, but significant, detection of heritable mutations over guideline-based testing. One in 10 patients had changes in their management based on test results. Uptake of cascade family testing was low, which is a concerning observation that warrants further study.
https://www.cghjournal.org/article/S1542-3565(21)00447-X/fulltext
Frameshift mutations in peripheral blood as a biomarker for surveillance of Lynch syndrome
Lynch syndrome (LS) is a hereditary cancer predisposition syndrome caused by germline mutations in DNA mismatch repair (MMR) genes, which lead to high microsatellite instability (MSI-H) and frameshift mutations (FSMs) at coding mononucleotide repeats (cMNRs) in the genome. Recurrent FSMs in these regions are thought to play a central role in the increased risk of various cancers. However, there are no biomarkers currently available for the surveillance of MSI-H-associated cancers.
Conclusions
They demonstrated that FSMs can be detected in cfDNA from MSI-H/MMRd cases and asymptomatic carriers. The 122-target FSM panel described here has promise as a tool for improved surveillance of MSI-H/MMRd carriers with the potential to reduce the frequency of invasive screening methods for this high-cancer-risk cohort.
The addition of this FSM-based biomarker panel could be used in parallel with LS monitoring in treatment and prevention settings.
https://academic.oup.com/jnci/advance-article/doi/10.1093/jnci/djae060/7625568?login=false
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Living with Lynch syndrome, the most prevalent hereditary cancer syndrome and the primary cause of hereditary colorectal cancer, has been a journey filled with unique challenges and exhausting uncertainty.
I gladly drink the colonoscopy prep so many people detest — I view it as an enormous privilege, an advantage that so many who had died from colon cancer before us did not have. Each step of this process served as a poignant reminder of the privilege bestowed upon me—an advantage denied to countless individuals who succumbed to colon cancer without the opportunity for preventive care.
Evaluation of a Mindfulness-based Stress Reduction Programme on the Quality of Life of Survivors living with secondary cancer
This study reports that the MBSR program had a retained effect on wellbeing through continued use of mindfulness practices after the course, and an integration of these practices into the lives of those living with advanced cancer. The monthly mindfulness meetings are a very valuable addition to the MBSR programme.
The practice of mindfulness instructs participants to deliberately focus on the present and monitor their experiences at the time without passing judgment. As a result, participants experience some of the benefits through the mind-body connection, focusing on the positive as well as improved peer support from their peers in the groups. The monthly mindfulness meetings were also a valuable addition to the programme.
This study also showed that the MBSR program had a retained effect on wellbeing after ending the programme through continued use and integration of mindfulness techniques into the lives of those living with advanced cancer.
Although there are limitations...They concluded that the MBSR Programme is both feasible and beneficial for people living with secondary cancer.
Lynch Decision Aid – Lynch Choices
“Please help us to make sure families with Lynch are invited to complete a short digital patient survey to tell us what they think, before we roll this out into clinical practice:
https://southampton.qualtrics.com/jfe/form/SV_1FvPJJEZPVX62aO
If you have an X/Twitter account, please see this post and share it if you can:https://x.com/kohut_kelly/status/1765675956159623324?s=20
Lynch Syndrome Ireland 