Abstract

This study aimed to analyze the role of genetic/epigenetic alterations and the prognostic value of the DNAJC9 gene in breast cancer. RT-PCR and Q-RT-PCR methods are used to examine DNAJC9 expression in breast cell lines. Survival ratios of breast cancer patients were evaluated by using bc-GenExMiner. Combined bisulfite restriction analysis and UALCAN in-silico tool were used to assess the methylation level of the DNAJC9 promoter. Mutations were searched with the help of Sanger Cosmic database and direct sequencing. DNAJC9 mRNA expression is significantly higher in basal-like, HER2-Enriched (HER2-E), luminal A and luminal B breast cancer subtypes compared to normal breast-like samples based on DNA microarray datasets (P < 0.001). Similar results were obtained in RNA-seq datasets, except for the luminal A breast cancer subtype (P > 0.1). We did not find any mutation at the core promoter region of DNAJC9 in breast cancer and normal cell lines. Mutations of DNAJC9 are infrequent in clinical samples (<%1). DNAJC9 promoter region is hypomethylated in tumor and normal samples. DNAJC9 expression is unfavorable for survival in basal-like and luminal A breast cancer subtypes. Mutations or promoter hypomethylation do not appear to have a role in high DNAJC9 gene expression in breast cancer. DNAJC9 expression could be suggested as a novel biomarker in basal-like and luminal A breast cancer subtypes.

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