Fig. 1.

Profiles of genetic alterations significantly differ between thyroid carcinomas and benign nodules. (A) Overall analysis of gene alteration profiles, indicating that most mutated genes have significantly higher mutation ratios in cancer tissues than benign nodules. (B) The number of each particular type of variations in detected genes. (C) Mutation frequencies of all genes sequenced among cancer tissues, benign nodules and para-carcinoma tissues. (D) Mutation sites of genes in DNA damage repair signaling pathways. (E) Significantly higher frequency of gene fusions detected at the RNA level than the DNA level. (F) Fusion sites of the four fusion types: CCDC6-RET (2/124, 1.61%) is the fusion of CCDC6 exon 1 and RET exon 12, NCOA4-RET (6/124, 4.84%) is the fusion of NCOA4 exon 8 and RET exon 12, ETV6-NTRK3 (5/124, 4.03%) is the fusion of ETV6 exon 4 and NTRK3 exon 14, and TPM3-NTRK1 (1/124, 0.81%) is the fusion of TPM3 exon 7 and NTRK1 exon 10. (G) Mutation proportion of mutated genes in our cohort and TCGA database