Extended Data Fig. 1: mSWI/SNF gene mutations in dedifferentiated endometrial carcinomas.
A. Summary of whole-exome sequencing profiling of uterine dedifferentiated carcinomas (GENIE cohort, n = 22 cases), indicating mutation frequencies and type of mSWI/SNF, POLE, TP53, and other gene mutations. B. Summary of whole-exome sequencing profiling of endometrial/ovarian dedifferentiated carcinomas (Dana Farber dataset; n = 35 cases), indicating mutation frequencies and type of mSWI/SNF, POLE, TP53, and other genes. C. Summary of mutations in TCGA (n = 515 cases; serous/mixed/endometrioid carcinoma). Features are indicated in legend; Tumor type, tumor grade, mutation type and histology are indicated. D. Pie chart showing breakdown of mSWI/SNF gene mutations in DDEC cases from DFCI, Coatham et al., and TCGA. E. Mutual exclusivity analyses performed for mSWI/SNF, POLE, and TP53 on TCGA dataset of serous/mixed/endometrioid dedifferentiated carcinomas. F. Mutational characteristics for endometrial carcinoma cell lines used in this study. mSWI/SNF and top-mutated genes are shown (CCLE). *indicates damaging mutations. G. Immunoblot performed on nuclear extract (input) and IgG and anti-SMARCA4 immunoprecipitation from VOA1066 cells. mSWI/SNF components and TBP are shown. H. TMT-MS shown for SMARCA4 IP (and IgG control IP) in VOA1066 cells. I, J. Summary of n = 75 DDEC cases analyzed by IHC, indicating positive/negative protein staining status of ARID1A, ARID1B, SMARCA4, SMARCA2, and SMARCB1. K. SMARCA4 IHC performed on n = 3 ARID1A/ARID1B dual-mutated DDEC cases. Undifferentiated and well-differentiated compartments are indicated.
