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

Conclusion 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.

http://jmg.bmj.com/cgi/content/short/60/12/1218?rss=1

Source: Journal of Medical Genetics - November 27, 2023 Category: Genetics & Stem Cells Authors: Hebert, R., Cullinan, N., Armstrong, L., Blood, K. A., Brossard, J., Brunga, L., Cacciotti, C., Caswell, K., Cellot, S., Coltin, H., Deyell, R. J., Felton, K., Fernandez, C. V., Fleming, A. J., Gibson, P., Hammad, R., Jabado, N., Johnston, D. L., Lafay-Co Tags: Clinical guidelines Source Type: research