Comprehensive Analysis of HMCN1 Somatic Mutation in Clear Cell Renal Cell Carcinoma.

ABSTRACT:

Background

Renal cell carcinoma (RCC) is a common malignancy of the genitourinary system and clear cell renal cell carcinoma (ccRCC) is the most representative subtype. The morbidity and mortality of ccRCC have gradually risen during recent years; however, the pathogenesis and potential biomarkers remain unclear. The purpose of our study was to find out prognostic genes correlated with somatic mutation and the underlying mechanisms of HMCN1 mutation in ccRCC.

Methods

Somatic mutation data of two ccRCC cohorts were acquired from TCGA and cBioPortal. Genes frequently mutated in both datasets were extracted, from which tumor mutation burden and survival analysis revealed three prognostic genes. Further comprehensive analysis of HMCN1 mutation was carried out to identify differentially expressed genes and apply functional annotations. The correlation of HMCN1 mutation and tumor immunity was also evaluated.

Results

HMCN1, SYNE1, and BAP1 mutations were associated with both tumor mutation burden and clinical prognosis in ccRCC. Gene enrichment analysis suggested the effects of HMCN1 mutation on biological processes and pathways linked to energy metabolism. HMCN1 mutation was also correlated with anti-tumor immunity. There were several limitations in the sample size and cohort availability of the present computational study.

Conclusions

The present results inferred that HMCN1 mutation might have an important clinical significance for ccRCC patients by regulating metabolism and the immune microenvironment.

SUBMITTER: Gong Z 

PROVIDER: S-EPMC9316380 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature