Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group

Constitutional Mismatch Repair Deficiency Syndrome or CMMRD is a rare, hereditary cancer condition impacting mainly children and young adults. CMMRD individuals get malignant cancers of all types but most commonly brain, intestines (colon) and blood cancers.  In the past, most of these patients used to die before adulthood, however, nowadays it is very important to identify CMMRD because special treatments and cancer screening is available.

It is very difficult to diagnose CMMRD because it is similar to other conditions and genetic testing alone cannot always confirm the diagnosis.   An international committee of experts created 7 diagnostic criteria which incorporates genetic testing, patient’s medical history and additional testing, to determine if an individual has a definite or probable diagnosis of CMMRD.   Using these criteria, clinicians will be able to identify who has this syndrome and implement appropriate cancer treatment, screening and improve survival for these individuals. (By Melyssa Aronson, https://jmg.bmj.com/content/early/2021/02/22/jmedgenet-2020-107627 )

The group meeting at the International IRRD workshop held in Toronto on Oct 15-16, 2017

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