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Joint webinar with NASPGHAN: Constitutional mismatch repair deficiency syndrome

Updated: Jun 29, 2023

If you didn’t have the chance or would like to re-watch some part of our last webinar, you can now access its recording if are a member. Not a member? Join here!

Our third webinar of the 2023 series was done in partnership with the North American Society for Pediatric Gastroenterology, Hepatology & Nutrition (NASPGHAN) covering Constitutional Mismatch Repair Deficiency Syndrome (CMMRD) current diagnosis criteria, surveillance recommendations, and challenges. This rare condition is impactful for families with Lynch syndrome across many generations and ages, with a tumour spectrum that is continuously expanding.

We had the pleasure of having Carol Durno, MD, FRCPC, and Melyssa Aronson, MS, (C) CGC present the importance of effective surveillance strategies, with pertinent examples such as improved survival in pediatric patients. We explored the current approaches for diagnosing CMMRD, emphasizing phenotypes that overlap with other tumor syndromes, including neurofibromatosis and other hereditary colorectal and polyposis conditions. One important take-home message is the global effort being done by the International Replication Repair Deficiency Consortium to raise awareness for CMMRD: for such an underdiagnosed syndrome, clinical awareness of its associated phenotypes is crucial to identify new cases.

For additional information on CMMRD, check out our recent tweetorial on a featured JCO article!

We hope you enjoyed this session, and the productive discussion. Please stay tuned for the next CGA-IGC webinar!

Many thanks to our fantastic moderators and speakers for their time!


Our webinars are a valuable member benefit, and we encourage you to sign up as a member so that you can join the live webinars and access our earlier webinar series on demand!

Also, looking for other educational resources?

If you enjoy webinars, you may like our Journal Club podcast series (Seasons 3, 4 &5) 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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