Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes

Cancer predisposition syndromes (CPSs) are genetic conditions that increase the risk of developing cancer throughout life. It is sometimes difficult for doctors to recognize various types of CPSs in their patients. Recently, an app called MIPOGG was created to help clinicians identify which of their pediatric cancer patients could have a CPS. In this study, we showed that MIPOGG could appropriately screen for four different CPS types (Li-Fraumeni syndrome, DICER1 syndrome, Constitutional Mismatch Repair Deficiency and Gorlin syndrome) and it performed as well or slightly better than existing sets of clinical screening criteria that are specific to each of these syndromes. (By Dr. Catherine Goudie, https://jmg.bmj.com/content/early/2023/07/17/jmg-2023-109376 )

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