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.
A report from the prospective Lynch syndrome database: The PLSD(www.PLSD.eu) is a prospective observational study without a control group that was designed in 2012 and updated up to October 2022. Data for 8500 carriers of path_MMR variants from 25 countries were included, providing 71,713 years of follow up.
The current study found low CRC mortality in path_MMR carriers who receive colonoscopy surveillance while some extracolonic cancers were associated with high mortality. Further improvement of survival in LS may require a focus on the prevention and treatment of non-colorectal cancers, likely including approaches based upon the immune response to MSI pre-cancerous lesions and cancers.
https://www.thelancet.com/journals/eclinm/article/PIIS2589-5370(23)00086-X/fulltext#secsectitle0095
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
Everyone diagnosed with advanced or recurrent endometrial cancer in England can access a new treatment that has been approved by The National Institute for Health and Care Excellence (NICE).
Approval of pembrolizumab (Keytruda), a type of cancer treatment called immunotherapy, and lenvatinib (Lenvima), a cancer growth blocker, will offer the potential for people with womb cancer to live longer, to feel well, and to live more independently, and with improved quality of life.
The study, which was published in the Journal of the National Cancer Institute, found that there are four symptoms that can be early warning signs for colorectal cancer:
According to the study, these symptoms appeared at least two years before a colorectal cancer diagnosis.
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 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 into clinical practice will undoubtably improve detection rates and allow for more effective, precise, and personalised management programmes for patients with LS.
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.
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.
Despite the efficacy of premenopausal RRSO for reducing ovarian cancer risk and improving mortality in high-risk women, many women experience troublesome menopausal symptoms and oophorectomy may have adverse implications for long-term health.
Our panel of international experts has developed evidence-based recommendations for managing vasomotor, sleep, mood, sexual, and genitourinary symptoms and optimising bone and cardiovascular long-term health. Emerging evidence suggests that HRT reduces but does not eliminate the adverse effects of premenopausal oophorectomy. Women and clinicians considering RRSO should be aware of these risks and clinical care should focus on available safe options for symptom management and optimisation of long-term health.
https://obgyn.onlinelibrary.wiley.com/doi/full/10.1111/1471-0528.17511
it may be appropriate to consider categorizing Lynch syndrome as 4 distinct syndromes based on the specific altered MMR gene, as occurs for the recessive syndromes associated with MUTYH, NTHL1, and MBD4base excision repair glycosylases. The varying carcinogenic mechanisms and associated cancer risks indicate the need for gene-specific surveillance recommendations in Lynch syndrome. Moreover, the growing understanding of gene-specific differences will likely affect treatment options and efficacy of Lynch syndrome vaccines.
Lynch Syndrome Ireland 