Figure 1.

Correlations between cancer predisposition syndromes and MB subtypes. (A) In Gorlin syndrome both PTCH1 and SUFU mutations have been associated to MB-SHH subgroup. Vismodegib and Sonidegib are selective antagonists of the transmembrane activator Smoothened (SMO). (B) In Li-Fraumeni syndrome los of TP53 finctions results in increased risk of developing MB-SHH subtype. (C) In Turcot syndrome, twotypes have been distinguished: Type 1 genetically related to the mutationof the mismatch repair genes and Type 2 related to APC mutation that are more commonly associated with MB-WNT subtype. (D) Pathogenic germline mutations in BRCA2, PALB2, GPR161, and ELP genes have been recently associated to an increased risk of developing different MB subtypes. (E) In Rubenstein-Taybi syndrome mutations in CREEBP and EP300 genes predispose to MB Group 3 onset.