# Identifying functional roles and pathways of shared mutations in canine solid tumors by whole-genome sequencing

**Authors:** YeSeul Jeon, Hyeona Bae, Seung-Wan Woo, Jaemin Kim, DoHyeon Yu, Andre van Wijnen, Andre van Wijnen, Andre van Wijnen

PMC · DOI: 10.1371/journal.pone.0307792 · PLOS One · 2025-05-30

## TL;DR

This study uses whole-genome sequencing to find shared mutations and altered pathways in canine solid tumors, revealing differences between carcinomas and sarcomas that could guide targeted therapies.

## Contribution

The study identifies distinct mutation patterns and pathways in canine carcinomas and sarcomas, suggesting different therapeutic strategies for each tumor type.

## Key findings

- Forty-three and fifty-eight genes were identified as commonly mutated in carcinoma and sarcoma groups, respectively.
- Carcinoma mutations were linked to cell adhesion molecules, while sarcoma mutations were associated with extracellular matrix-related molecules.
- The findings suggest that immune and metastatic functions are modified differently in carcinomas and sarcomas.

## Abstract

Identifying genetic mutations contributing to solid tumors by altering the biological pathways related to tumor formation and development is essential for the development of targeted therapies. This study aimed to identify commonly mutated genes and altered pathways in canine solid tumors. Four dogs with different types of naturally occurring neoplasias (urothelial carcinoma, adenocarcinoma, rhabdomyosarcoma, and chondrosarcoma) were randomly selected and classified into carcinoma and sarcoma groups based on histopathological findings. Tumor tissues were analyzed using whole-genome sequencing, and significant variants shared within each tumor group were identified. Gene set enrichment analyses were conducted to compare the biological and functional pathways altered by the mutations in each carcinoma and sarcoma group. Forty-three and fifty-eight genes were identified in the carcinoma and sarcoma groups, respectively. Distinctions between the two tumor groups were noted for mutations related to tumor metastatic function. Mutations were identified in genes encoding cell adhesion molecules in the carcinoma group, whereas significant variations in extracellular matrix-related molecules were evident in the sarcoma group. This study revealed mutations and modified pathways associated with immune and tumor metastatic functions in canine carcinoma and sarcoma, indicating their significant relevance to the development and progression of each tumor group. Additionally, the distinctions indicated that different therapeutic approaches were required for each tumor group.

## Linked entities

- **Diseases:** urothelial carcinoma (MONDO:0040679), adenocarcinoma (MONDO:0004970), rhabdomyosarcoma (MONDO:0005212), chondrosarcoma (MONDO:0008977)

## Full-text entities

- **Diseases:** adenocarcinoma (MESH:D000230), urothelial carcinoma (MESH:D014523), sarcoma (MESH:D012509), rhabdomyosarcoma (MESH:D012208), Tumor (MESH:D009369), chondrosarcoma (MESH:D002813)
- **Species:** Canis lupus familiaris (dog, subspecies) [taxon 9615]

## Full text

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## Figures

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## References

92 references — full list in the complete paper: https://tomesphere.com/paper/PMC12124556/full.md

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Source: https://tomesphere.com/paper/PMC12124556