# Comprehensive Analysis Reveals Deoxyribonuclease 1 as a Potential Prognostic and Diagnostic Biomarker in Human Cancers

**Authors:** Loai F Eletr, Sahar H Ibnouf, Tanzeel A Salih, Hadba I Ibrahim, Mustafa I Mustafa, Nasma A Alhashmi, Mohamed Alfaki

PMC · DOI: 10.7759/cureus.56171 · Cureus · 2024-03-14

## TL;DR

This study finds that DNASE1 gene expression varies across cancers and may serve as a biomarker for kidney and bladder cancers.

## Contribution

The novel contribution is identifying DNASE1 as a potential diagnostic and prognostic biomarker in kidney and bladder cancers.

## Key findings

- DNASE1 is highly expressed in bladder, breast, and head and neck cancers but low in kidney and thyroid cancers.
- High DNASE1 expression correlates with poor prognosis in kidney renal clear cell carcinoma.
- DNASE1 expression is associated with immune cell infiltration in kidney cancer subtypes.

## Abstract

Background: Deoxyribonuclease 1 (DNASE1) is an important gene associated with several cancers, including liver, bladder, and gastric cancer. It has been linked to autoimmune illnesses, including systemic lupus erythematosus, which may lead to cancer formation. However, the role of DNASE1 in cancer has not been studied.

Materials and methods: We performed a pan-cancer analysis using bioinformatics tools, including Tumor Immune Estimation Resource (TIMER), Gene Expression Profiling Interactive Analysis (GEPIA), and University of Alabama at Birmingham Cancer Data Analysis Portal (UALCAN) databases, Kaplan-Meier plotter, and cBioPortal, to investigate the expression of DNASE1 across various cancers as well as its association with immune infiltration and genetic alterations. Public datasets were used to validate DNASE1 expression in kidney renal clear cell carcinoma (KIRC) and kidney papillary renal cell carcinoma (KIRP) samples.

Results: DNASE1 was found to be highly expressed in many cancers, such as bladder urothelial carcinoma (BLCA), breast invasive carcinoma (BRCA), head and neck squamous cell carcinoma (HNSC), and was lowly expressed in other cancers, including KIRC, KIRP, and thyroid carcinoma (THCA). Additionally, TIMER results showed an association of DNASE1 with immune cell infiltration in KIRC and KIRP. Survival analysis indicated that high DNASE1 expression was associated with poor prognosis in KIRC. We also discovered that altered DNASE1 expression was related to poor prognosis in The Cancer Genome Atlas (TCGA) tumors.

Conclusion: DNASE1 could potentially be used as a prognostic and diagnostic biomarker for KIRC and as a diagnostic biomarker for KIRP.

## Linked entities

- **Genes:** DNASE1 (deoxyribonuclease 1) [NCBI Gene 1773]
- **Diseases:** liver cancer (MONDO:0002691), bladder cancer (MONDO:0004986), gastric cancer (MONDO:0001056), systemic lupus erythematosus (MONDO:0007915), thyroid carcinoma (MONDO:0015075)

## Full-text entities

- **Genes:** DNASE1 (deoxyribonuclease 1) [NCBI Gene 1773] {aka DNL1, DRNI}
- **Diseases:** BLCA (MESH:D001749), autoimmune illnesses (MESH:D001327), THCA (MESH:D013964), KIRC (MESH:D002292), liver, bladder, and gastric cancer (MESH:D013274), HNSC (MESH:D000077195), BRCA (MESH:D001943), systemic lupus erythematosus (MESH:D008180), Cancer (MESH:D009369)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

8 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11015913/full.md

## References

25 references — full list in the complete paper: https://tomesphere.com/paper/PMC11015913/full.md

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Source: https://tomesphere.com/paper/PMC11015913