Research Paper Volume 13, Issue 22 pp 24686—24709

Genomic mutation features identify distinct BRCA-associated mutation characteristics in endometrioid carcinoma and endometrioid ovarian carcinoma

Canhui Cao1,2, *, , Ruidi Yu1,2, *, , Wenjian Gong1,2, *, , Dan Liu1,2, , Xiaoxue Zhang1,2, , Yong Fang1,2, , Yu Xia1,2, , Wei Zhang1,2, &, , Qinglei Gao1,2, ,

  • 1 Cancer Biology Research Center, Key Laboratory of the Ministry of Education, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China
  • 2 Department of Gynecology and Obstetrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China
* Equal contribution

Received: June 11, 2021       Accepted: October 25, 2021       Published: November 27, 2021
How to Cite

Copyright: © 2021 Cao et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Although endometrioid carcinoma (EC) and endometrioid ovarian carcinoma (EnOC) display similar pathological features, their molecular characteristics remain to be determined. Somatic mutation data from 2777 EC, 423 EnOC, and 57 endometriosis patients from the Catalogue of Somatic Mutations in Cancer (COSMIC) dataset were analyzed and showed similar profiles with different mutation frequencies among them. By using 275 overlapping mutated genes, EC was clustered into two groups with different disease outcomes and different clinical characteristics. Although BRCA-associated mutation characteristics were identified in both EC and EnOC, the mutation frequencies of BRCA1 (P=0.0146), BRCA2 (P=0.0321), ATR (P=3.25E-11), RAD51 (P=3.95E-08), RAD1 (P=0.0003), TP53 (P=6.11E-33), and BRIP1 (P=2.90E-09) were higher in EnOC. Further analysis showed that EnOC cell lines with BRCA-associated mutation characteristics were more sensitive to poly ADP-ribose polymerase (PARP) inhibitors than EC cell lines, including olaparib, talazoparib, rucaparib, and veliparib. Moreover, based on BRCA-associated mutational and transcriptomic profiles, EC with BRCA-associated mutational burdens shows lower levels of immune cell infiltration, higher expression of immunosuppressive checkpoint molecules and worse prognosis than EC without BRCA mutation. Our study comprehensively analyzed the genome mutation features of EC and EnOC and provide insights into the molecular characteristics of EC and EnOC.


EC: endometrioid carcinoma; EnOC: endometrioid ovarian carcinoma; PARP: polyadenine diphosphate ribose polymerase; GO: gene ontology; COSMIC: Cancer Somatic Mutation Catalog; KEGG: Kyoto Encyclopedia of Genes and Genomes; PPI: protein-protein interaction network; TCGA: The Cancer Genome Atlas; TIMER: Tumor Immune Estimation Resource.