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Selected Publication:

Type of publication: Journal Article
Type of document: Full Paper

Year: 2017

Authors: Bellone, RR; Liu, J; Petersen, JL; Mack, M; Singer-Berk, M; Drögemüller, C; Malvick, J; Wallner, B; Brem, G; Penedo, MC; Lassaline, M

Title: A missense mutation in damage-specific DNA binding protein 2 is a genetic risk factor for limbal squamous cell carcinoma in horses.

Source: Int J Cancer. 2017; 141(2):342-353

Authors Vetmeduni Vienna:

Brem Gottfried
Wallner Barbara

Vetmed Research Units
Institute of Animal Breeding and Genetics, Unit of Molecular Genetics
Institute of Animal Breeding and Genetics, Unit of Reproductive Biology

Squamous cell carcinoma (SCC) is the most common cancer of the equine eye, frequently originating at the limbus, with the potential to invade the cornea, cause visual impairment, and result in loss of the eye. Several breeds of horses have a high occurrence of limbal SCC implicating a genetic basis for limbal SCC predisposition. Pedigree analysis in the Haflinger breed supports a simple recessive mode of inheritance and a genome-wide association study (N = 23) identified a 1.5 Mb locus on ECA12 significantly associated with limbal SCC (P

Keywords Pubmed: Animals
Carcinoma, Squamous Cell/genetics
Carcinoma, Squamous Cell/veterinary*
Computational Biology
DNA Damage
DNA-Binding Proteins/chemistry
DNA-Binding Proteins/genetics*
Eye Neoplasms/genetics
Eye Neoplasms/veterinary*
Genetic Predisposition to Disease
Genome-Wide Association Study/veterinary
Horse Diseases/genetics*
Limbus Corneae/pathology*
Mutation, Missense*
Protein Structure, Secondary
Sequence Analysis, DNA/veterinary

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