Our study describes three new NTHL1 tumor syndrome families, two of them presenting in homozygosity the recurrent pathogenic variant NM_002528.7:c.244C>T p.(Gln82Ter), formerly known as c.268C>T, p.(Gln90Ter), using the NM_002528.6, and one family harboring that variant in compound heterozygosity with the variant NM_002528.7:c.435_446del p.(Leu146_Arg149del) (Figure 1). The gene discussed is NTHL1; the disease is neoplastic syndrome.