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Home / Equine Research Bank / Animals (Basel) / Studying the Impact of the DDB2 T338M Missense Mutation on t...
Animals : an open access journal from MDPI2025; 15(7); doi: 10.3390/ani15070911

Studying the Impact of the DDB2 T338M Missense Mutation on the Development of Equine Squamous Cell Carcinoma and Sarcoid.

Abstract: A missense mutation in damage-specific DNA binding protein 2 (DDB2 c.1013 C>T; p.Thr338Met) has been described as a risk factor for ocular squamous cell carcinoma (OSCC) in the Haflinger breed. Here, we examined the impact of DDB2 C>T allele status on the development of OSCC, squamous cell carcinoma (SCC) at other localisations, or equine sarcoid (ES) in Haflingers and other breeds with a high incidence of these tumour types. We genotyped affected Haflinger, Noriker, Warmblood, and Icelandic horses. Results based on 56 Haflingers confirmed the significantly higher risk for OSCC in DDB2-TT Haflingers but also suggested an increased risk in heterozygous (DDB2-CT) Haflingers. We also found the DDB2-T allele in Norikers with OSCC but not in Warmbloods. Only one homozygous DDB2-T allele carrier was among the 23 Haflinger and 44 Noriker/Warmblood/Icelandic horses with an SCC at a localisation other than the eye or ES. Overall, our data underline the severity of the DDB2-T allele with regard to OSCC and provide no evidence for the impact of the DDB2 risk allele status on the development of ES and SCC at localisations other than the eye.
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Publication Date: 2025-03-22 PubMed ID: 40218305PubMed Central: PMC11987844DOI: 10.3390/ani15070911Google Scholar: Lookup
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Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

The research paper investigates the effect of a particular genetic variation (DDB2 T338M Missense Mutation) on the development of certain types of cancer, including ocular squamous cell carcinoma and sarcoid, in horses.

Introduction:

  • The study primarily focuses on the impact of a specific mutation in the damage-specific DNA binding protein 2 (DDB2 c.1013 C>T; p.Thr338Met). This mutation has previously been identified as a risk factor for ocular squamous cell carcinoma (OSCC) in Haflinger breed horses.
  • Besides OSCC, the researchers also explored whether this mutation plays any role in the development of squamous cell carcinoma (SCC) in different parts of the body, or in equine sarcoid (ES), which is another type of tumor.

Techniques and methods:

  • To carry out this research, scientists used genotyping methods to identify the DDB2 C>T allele status in various horse breeds like Haflinger, Noriker, Warmblood, and Icelandic horses that were affected with these specific types of cancers.

Findings:

  • The analysis of 56 Haflinger horses confirmed that the risk for OSCC was significantly higher in horses carrying the variant form of DDB2 gene (DDB2-TT). However, the study reveals that an increased risk was also observed in ‘heterozygous’ Haflingers (DDB2-CT), which carry only one variant form of the DDB2 gene.
  • The DDB2-T gene variant was also found in Noriker breed horses with OSCC, but it was not present in Warmblood horses.
  • Importantly, out of the 67 horses with SCC at a location other than the eye or with ES, only one was a carrier of two variant forms of the DDB2 gene (homozygous DDB2-T allele carrier).

Conclusion:

  • The study’s findings underscore the severity of the DDB2-T variant allele in relation to OSCC in horses.
  • Contrarily, the study does not prove any association between the status of the DDB2 risk allele and the development of SCC (other than OSCC) and ES in the examined horse breeds.

Cite This Article

APA
Quatember H, Nell B, Richter B, Rigler D, Dolezal M, Sykora S, Wallner B. (2025). Studying the Impact of the DDB2 T338M Missense Mutation on the Development of Equine Squamous Cell Carcinoma and Sarcoid. Animals (Basel), 15(7). https://doi.org/10.3390/ani15070911

Publication

Animals : an open access journal from MDPI
ISSN: 2076-2615
NlmUniqueID: 101635614
Country: Switzerland
Language: English
Volume: 15
Issue: 7

Researcher Affiliations

Quatember, Hannah
  • Department for Small Animals and Horses, Clinical Centre for Equine Health and Research, University of Veterinary Medicine Vienna, Veterinärplatz 1, 1210 Vienna, Austria.
Nell, Barbara
  • Department for Small Animals and Horses, Clinical Centre for Equine Health and Research, University of Veterinary Medicine Vienna, Veterinärplatz 1, 1210 Vienna, Austria.
Richter, Barbara
  • Department of Biomedical Sciences and Pathobiology, Institute of Pathology, University of Veterinary Medicine Vienna, Veterinärplatz 1, 1210 Vienna, Austria.
Rigler, Doris
  • Department of Biomedical Sciences and Pathobiology, Animal Breeding and Genetics, University of Veterinary Medicine Vienna, Veterinärplatz 1, 1210 Vienna, Austria.
Dolezal, Marlies
  • Department of Biomedical Sciences and Pathobiology, Platform for Bioinformatics and Biostatistics, University of Veterinary Medicine Vienna, Veterinärplatz 1, 1210 Vienna, Austria.
Sykora, Sabine
  • Department for Small Animals and Horses, Clinical Centre for Equine Health and Research, University of Veterinary Medicine Vienna, Veterinärplatz 1, 1210 Vienna, Austria.
Wallner, Barbara
  • Department of Biomedical Sciences and Pathobiology, Animal Breeding and Genetics, University of Veterinary Medicine Vienna, Veterinärplatz 1, 1210 Vienna, Austria.

Conflict of Interest Statement

The authors declare no conflicts of interest.

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