Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes.
Robyn HebertNoelle CullinanLinlea ArmstrongKatherine A BloodJosee BrossardLedia BrungaChantel CacciottiKimberly CaswellSonia CellotHallie ColtinRebecca J DeyellKathleen FeltonConrad V FernandezAdam J FlemingPaul GibsonRawan HammadNada JabadoDonna L JohnstonLucie Lafay-CousinValérie LaroucheCassandra Leblanc-DesrochersOrli MichaeliRenee PerrierMeghan PikeJemma SayIan SchillerAnnie-Kim ToupinStéphanie VairyKalene van EngelenNicolas WaespeAnita VillaniWilliam D FoulkesDavid MalkinCatherine GoudieCatherine GoudiePublished in: Journal of medical genetics (2023)
This study adds evidence that MIPOGG is an appropriate tool for CPS screening in clinical practice. MIPOGG's strength is that it starts with a specific cancer diagnosis and incorporates criteria relevant for associated CPSs, making MIPOGG a more universally accessible diagnostic adjunct that does not require in-depth knowledge of each CPS.