Cancer is the second leading cause of death, often without a cure. There are many genetic factors that can either cause cancer, worsen existing conditions, or shorten a person's life span; however, it is not fully understood. During embryogenesis, many genes are expressed during a short window of the developmental stages and then switched off in adults. It is known that some of the embryogenesis specific genes are switched on in tumors. The purpose of this study was to identify genes that are exclusively expressed in the central nervous system (CNS) of the E14.5 mouse embryo (Dlez-Roux, G. et al) associated with cancer to provide a foundation for future research.Using cBioPortal, we queried the TCGA PanCancer Atlas Studies (32 studies and 10,967 samples) by each of the 80 genes expressed in the CNS of E14.5 mouse embryo. The data types analyzed included cancer type percentages and survival estimate (overall and disease/progression-free Kaplan-Meier estimate). To identify genes that are relevant in human cancer, the 80 genes were filtered based on three criteria: whether the gene mutations were found in at least 10% of various cancer types, whether the p-value for either the overall survival Kaplan-Meier Estimate, and of the disease/progression-free Kaplan-Meier Estimate was equal or less than 0.05. Fourteen genes carried mutations in more than 10% of various cancer types. Mutations in nine genes significantly decreased cancer patients' overall survival, but mutations in one gene significantly improved overall survival. Mutations in ten genes also significantly decreased the patients' disease/progression-free survival. Three genes demonstrated a high mutation rate (>15%) and significantly reduced patients' survival in both overall survival and disease/progression-free estimates. None of these genes have been identified as cancer driver genes. We report here that many of the CNS E14.5 mouse embryonic genes are mutated in human cancers and some of the mutations may predict cancer patient outcome. Using the same approach, we will evaluate whether these genes are correlated with the manifestation of all cancers or a subset of cancer types. In the future, we would like to obtain the opportunity to study the role of these genes in cancer development or cancer treatment in a laboratory. Dlez-Roux, G. et al: A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011This study was supervised by Dr. Yangjun Qin, and all authors contributed equally.

Citation Format: Miranda Xiong, Christina Wang, Eric Chen, Arthur Hu, Raymond Luo. Identification of mouse embryo genes in human cancer using cBioportal [abstract]. In: Proceedings of the Annual Meeting of the American Association for Cancer Research 2020; 2020 Apr 27-28 and Jun 22-24. Philadelphia (PA): AACR; Cancer Res 2020;80(16 Suppl):Abstract nr 2763.