Despite the relatively small number of reported cases of FA caused by BRCA2 PGVs, and multiple different cancers in individuals with the same mutations, there appears to be some association of individual PGVs with distinct cancer types in affected children; individuals with variants affecting the IVS7 splice site region appear to develop preferentially AML and not CNS malignancies, while none of the 6174delT and 886delGT carriers have been reported to develop AML, but rather, in most cases, brain tumours [21,33]. The gene discussed is BRCA2; the disease is cancer.