Figure 2

CTCF is mutated in endometrioid carcinoma and deleted in serous carcinoma. Analysis of mutation and copy number variation from published data.⁵ (a) Proportion of endometrioid (Endo, n=172) and serous samples (n=60) with mutations in CTCF; ***P<0.001 Fisher’s exact test. (b) Proportion of missense (n=16) or inactivating (nonsense and frameshift; n=25) mutations in all reads obtained by DNA Seq and RNA Seq spanning the mutation site in samples; ns not significant, **P<0.01, ***P<0.001, Mann–Whitney non-parametric test. (c) CTCF gene copy number analysis of endometrioid (n=172) and serous (n=60) samples using GISTIC; ***P<0.001 Fisher’s exact test. (d) CTCF gene expression in non-CTCF mutant endometrial and serous samples categorised for CTCF copy number using GISTIC (Loss n=51, Diploid n=128 and Gain n=1); ***P<0.001 Fisher’s exact test. (e) Survival analysis of serous endometrial cancer samples with (n=34) or without (n=17) CTCF genetic deletion; P=0.0156, log-rank (Mantel Cox) test.