Nevertheless, the ATM missense mutation c.8494C>T; p.(Arg2832Cys) has been associated with an increased cancer risk even in heterozygous carriers [33], therefore a disease modifying role in DM1-associated cancer susceptibility might not be ruled out completely and other patients with DM1 and pilomatricomas should be screened for defects in cancer-driving genes. This evidence concerns the gene ATM and cancer.