Molecular genetics & genomic medicine
Prognostic Impact of ERAP1 Genetic Variants and Haplotypes in Cervical Cancer: Insights From TCGA-CESC and a Brazilian Patient Cohort
Door Dian AL, Cunha APA, Melo CPS en 3 anderen.
Inhoud in het Engels
Abstract
Background
This study aimed to evaluate the association between genetic variants and haplotypes of ERAP1 and clinical outcomes in cervical cancer patients, utilizing data from the TCGA-CESC and a cohort of Brazilian patients.
Methods
ERAP1 variants and haplotypes were evaluated in two distinct cohorts: whole-exome sequencing (WES) data from 173 cervical cancer cases in the TCGA-CESC dataset, and Sanger sequencing data from 52 Brazilian cervical cancer patients. The TCGA-CESC data were employed for in silico analysis to identify significant ERAP1 variants and haplotypes, which were subsequently evaluated in Brazilian cervical cancer samples. The Tumor IMmune Estimation Resource (TIMER) tool was used to assess the association between ERAP1 expression and immune cell infiltration.