Rita Barbosa-Matos, PhD - CGA-IGC Communications Committee
Our recent webinar featured discussions on groundbreaking studies in hereditary cancer syndromes and colorectal cancer screening, highlighting new insights into cancer prevention, early detection, and genetic risk assessment.
Sanjeevani Arora, PhD, introduced a study by Bolivar AM et al. (2024), which explored the genomic landscape of colorectal neoplasia in Lynch Syndrome (LS). The research identified shared mutated neoantigens in precancers, presenting a promising avenue for vaccine development to prevent cancer progression in LS carriers. She also presented findings from Chung DC et al. (2024) on a cell-free DNA (cfDNA) blood-based test for colorectal cancer screening. The study demonstrated that this non-invasive test had 83% sensitivity for colorectal cancer, offering an alternative for individuals reluctant to undergo colonoscopy.
Beth Dudley, MS, MPH, CGC, CGAF, highlighted a study on Constitutional Mismatch Repair Deficiency (CMMRD) syndrome by Ercan AB et al. (2024), detailing the high cancer burden in CMMRD patients and the distinct molecular profiles of their tumor types.
Joshua Melson. MD presented research by Usui Y et al. (2023), which examined the combined effect of Helicobacter pylori infection and germline mutations in homologous-recombination genes on gastric cancer risk. The findings underscored the importance of H. pylori screening and eradication in high-risk populations. Additionally, he discussed a study by Imperiale TF et al. (2024) on a multitarget stool DNA test, comparing its sensitivity for colorectal cancer and advanced precancerous lesions to that of a commercially available fecal immunochemical test (FIT).
Finally, Catherine Neumann, MS,LCGC shared findings from Ryan C. et al. (2024), which reassessed the lifetime cancer risk associated with germline CDH1 variants. The study found that while CDH1-associated gastric cancer risk may be lower than previously estimated, the risk for breast cancer remains significant. She also presented insights from Bednar E. et al. (2024) on family communication and cascade genetic testing (CGT) in underserved populations. The study identified fear and perceived low susceptibility as key barriers to genetic testing, emphasizing the need for tailored interventions to support families navigating hereditary cancer risks.
As research continues to evolve, webinars like this provide a platform to share cutting-edge studies that contribute to more personalized and effective cancer risk management strategies.
Here is the list of the manuscripts presented:
Gastroenterology 2024 May;166(5):787-801.e11. doi: 10.1053/j.gastro.2024.01.016. Epub 2024 Jan 18.
N Engl J Med. 2024 Mar 14;390(11):973-983. doi: 10.1056/NEJMoa2304714.
Lancet Oncol. 2024 May;25(5):668-682. doi: 10.1016/S1470-2045(24)00026-3. Epub 2024 Mar 26.
N Engl J Med. 2023 Mar 30;388(13):1181-1190. doi: 10.1056/NEJMoa2211807.
N Engl J Med. 2024 Mar 14;390(11):984-993. doi: 10.1056/NEJMoa2310336.
We hope you enjoyed this webinar. Many thanks to our wonderful speakers and moderator for their time!
If you didn’t have the chance to join us for the fourth webinar of the year, or would like to view parts of it again, you can now watch it on-demand as a current CGA-IGC member. If you are not a member yet, you can join here.
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Our webinars are a valuable member benefit, and we encourage you to sign up as a member so you can join the live webinars and access our earlier webinar series on demand!
Also, looking for other educational resources? Toolkits? Podcasts?
If you enjoy webinars, you may like the CGA-IGC Podcast Series (Seasons 3, 4, 5, 6 & 7) presented by the CGA-IGC Education Committee. Or explore our Expert Approach to Hereditary Gastrointestinal Cancers podcast series (Seasons 1 and 2).
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