Mutation Frequencies in Endometrial Cancer Patients of Different Ethnicities and Tumor Grades: An Analytical Study

Overview

Journal Saudi J Med Med Sci

Specialty General Medicine

Date 2019 Feb 22

PMID 30787852

Citations 20

Authors

Mohammad A Althubiti

Affiliations

Soon will be listed here.

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 Kaplan-Meier method.

Results: 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). and mutation frequencies were higher in White and Asian patients compared with other ethnicities; and mutation frequencies were higher in Black/African Americans; and and 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 and . In terms of prognosis in endometrial cancer considering the 10 most frequently mutated genes, and mutations were correlated with good prognosis, whereas and 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.

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