Abstract
Background: Endometrial carcinoma is a predominant health problem for women worldwide. However, there is a lack of data on genetic mutation frequencies in endometrial cancer patients of different ethnicities and tumor grades.
Objective: The objective of this study is to provide data regarding mutation frequencies in endometrial cancer patients of different ethnic groups and tumor grades by analyzing large-scale cancer genomic datasets of a database.
Materials and Methods: The following databases of cBioPortal were explored for possible mutation frequency variations in endometrial cancer patients: the Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) database for ethnicity-based studies; the Uterine Corpus Endometrial Carcinoma (TCGA, Nature 2013) database for tumor grade-based study; and GDC Data Portal database for calculating survival rates using the Kaplanu-Meier method.
Results: PTEN mutation frequency was almost identical in all ethnic groups studied (White, Black/African American, Asian, Native Hawaiian or other Pacific Islander, and American Indian or Asian Native). PIK3CA and ARID1A mutation frequencies were higher in White and Asian patients compared with other ethnicities; TP53 and FAT1 mutation frequencies were higher in Black/African Americans; and CTNNB1 and RYR2 mutation frequencies were higher Native Hawaiians or Asian Natives. TTN mutation frequency was lower in Asian patients. With regards to mutation frequencies at different tumor stages, in all genes, >50% of the mutations occurred during the first stage, except in TP53 and POLQ. In terms of prognosis in endometrial cancer considering the 10 most frequently mutated genes, PIK3CA and ARID1A mutations were correlated with good prognosis, whereas TP53 and PIK3R1 mutations were correlated with poor prognosis; mutations in all other genes did not show significant differences.
Conclusion: This study revealed a new mutation frequency profile for different ethnicities and tumor grades in endometrial cancer patients. However, because this is a retrospective study, future prospective studies should be conducted including large sample sizes and more controlled measurements.