Fig. 4

Gene testing of blood and jaw tumor DNA samples. A NGS testing of pan-tumor related 1021 genes demonstrating CDC73 germline point mutation (c.1A > G, p.Met1Val). B Chromatographs of CDC73 sequencing verify the heterozygous germline A to G change in the blood DNA from the patient III:1. C NGS visual image of the proband’s jaw OFs sample showing a heterozygous deletion of a whole region of CDC73 with CNV ratio 0.6 on chromosome 1. D Analysis of blood DNA from the patient II:2 demonstrated the same CDC73 germline mutation (c.1A > G)