While the cause of most cancers is unknown, about one in 10 cancers are caused by changes in genes that can be passed down in families.
The lifetime risk of developing colorectal cancer is up to 52% for people with a gene mutation associated with Lynch syndrome, compared to about 4% for the general population.
These people also tend to get cancer at an earlier-than-average age. It’s estimated that less than 10% are aware of their status.
NCCN expanding genetic testing to “Any Lynch related cancer” instead of colon and endometrial cancer as one of the testing criteria
Lynch syndrome is encountered by many clinicians at some stage in their practice and yet remains under-diagnosed with historically limited success in risk stratification and management.
The PLSD(http://plsd.eu) international database continues to expand our knowledge of LS-associated cancer risk. However, we have yet to obtain international consensus on the optimal surveillance strategies, which will be essential among a population of patients who are living beyond their index cancer.
The advent of NGS(next generation sequencing) into clinical practice will undoubtably improve detection rates and allow for more effective, precise, and personalised management programmes for patients with LS.
Finally, over the next decade it will be exciting to see improvements in the preventative strategies that can be offered to patients in the form of aspirin, or even anti-cancer vaccines, as we continue to attempt to disrupt the natural history of this prevalent cancer predisposition syndrome.
The results of germline testing for LS can be complicated and the diagnostic pathway is not always clear. Furthermore, by testing only those with cancer for LS we fail to identify these individuals before they develop potentially fatal pathology.
Given the benefits to discovering that someone has LS, not just for the patient but for their immediate family members, it is expected that most people would welcome genetic testing for LS. In fact, there is good number of studies that suggest that hypothetically there is a high interest in finding out this information.By contrast, there are good reports that show that there is a high number of people that decline testing.
In summary, LS care has come a long way over the last twenty years. We now understand the individual cancer risk to inform consent, tests to accurately diagnoses LS and ways by which we can reduce cancer risk. However, more needs to be done to find those who are undiagnosed, develop less invasive cancer surveillance methods and develop new vaccinations and treatments.
https://fg.bmj.com/content/13/e1/e80
A personalised approach to lifelong gene-specific management for people with LS provides many opportunities for cancer prevention and treatment.
Lynch syndrome is the most commonly inherited colon cancer syndrome, and it accounts for approximately 3% of all newly diagnosed cases of colorectal cancer.
The genetics of both the tumor and the germline have an important role in the development and diagnosis of Lynch syndrome.
Conclusion: Nearly one-third of at-risk relatives remain uninformed of their risk of carrying a cancer-associated pathogenic variant. Even among those informed, fewer than half subsequently complete genetic testing, representing a critical missed opportunity for precision cancer prevention.
Innovation: Five studies evaluating interventions to improve disclosure rates were generally ineffective. Urgent work is needed to elucidate barriers to relative disclosure by probands (a person serving as the starting point for the genetic study of a family) to develop targeted interventions that can optimize proband-mediated cascade genetic testing rates.
The Know Your Biomarker Advocacy Toolkit was created to help you join the global effort to ensure all colorectal cancer patients have access to biomarker testing.
Biomarkers and biomarker testing are a fundamental part of precision medicine for colorectal cancer. Biomarkers provide vital information used to determine prognosis and risk of recurrence, guide treatment decisions, evaluate treatment response, and monitor for recurrence after treatment. Biomarker testing can help assess the need for adjuvant chemotherapy after surgery.
We have information about
• what a biomarker is
• how biomarkers are used in colorectal cancer care
• who should have biomarker testing
• specific colorectal cancer biomarkers • the impact each biomarker can have on treatment
To better understand Lynch syndrome and how to test for it early, we sat down with Dr. Michael Hall, a medical oncologist at Fox Chase Cancer Center. In this conversation, he discusses Lynch syndrome, what cancers patients would be more at risk for, and who should get tested.
Lynch Syndrome Ireland 