OMIA 000735-9796 : Ocular squamous cell carcinoma in Equus caballus

In other species: cattle , sheep , goat , domestic cat

Possibly relevant human trait(s) and/or gene(s) (MIM number): 278740

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2017

Cross-species summary: Malignant new growth of squamous epithelial cells in the eye. Also called cancer eye or eye cancer.

Inheritance: Bellone et al. (2017) reported pedigree data consistent with autosomal recessive inheritance.

Mapping: A GWAS conducted by Bellone et al. (2017) identified a 1.5Mb candidate region on chromosome EC12.

Molecular basis: By "sequencing the most physiologically relevant gene from [the candidate region on EC12, namely] damage specific DNA binding protein 2 (DDB2)", Bellone et al. (2017) "identified a missense mutation (c.1013 C > T p.Thr338Met) that was strongly [but not completely] associated with limbal SCC".

Breed: Haflinger.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
DDB2 damage-specific DNA binding protein 2 Equus caballus 12 NC_009155.3 (11691531..11729191) DDB2 Homologene, Ensembl, NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Belgian Haflinger Percheron Ocular squamous cell carcinoma DDB2 missense EquCab2 12 g.11608667 c.1013C>T p.T338M 2017 28425625 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2018 Singer-Berk, M., Knickelbein, K.E., Vig, S., Liu, J., Bentley, E., Nunnery, C., Reilly, C., Dwyer, A., Drögemüller, C., Unger, L., Gerber, V., Lassaline, M., Bellone, R.R. :
Genetic risk for squamous cell carcinoma of the nictitating membrane parallels that of the limbus in Haflinger horses. Anim Genet :, 2018. Pubmed reference: 29999543. DOI: 10.1111/age.12695.
2017 Bellone, R.R. :
Genetic Testing as a Tool to Identify Horses with or at Risk for Ocular Disorders. Vet Clin North Am Equine Pract 33:627-645, 2017. Pubmed reference: 29103563. DOI: 10.1016/j.cveq.2017.08.005.
Bellone, R.R., Liu, J., Petersen, J.L., Mack, M., Singer-Berk, M., Drögemüller, C., Malvick, J., Wallner, B., Brem, G., Penedo, M.C., Lassaline, M. :
A missense mutation in damage-specific DNA binding protein 2 is a genetic risk factor for limbal squamous cell carcinoma in horses. Int J Cancer :, 2017. Pubmed reference: 28425625. DOI: 10.1002/ijc.30744.
2015 Lassaline, M., Cranford, T.L., Latimer, C.A., Bellone, R.R. :
Limbal squamous cell carcinoma in Haflinger horses. Vet Ophthalmol 18:404-8, 2015. Pubmed reference: 25312447. DOI: 10.1111/vop.12229.
2005 Kaps, S., Richter, M., Philipp, M., Bart, M., Eule, C., Spiess, B.M. :
Primary invasive ocular squamous cell carcinoma in a horse. Vet Ophthalmol 8:193-7, 2005. Pubmed reference: 15910373. DOI: 10.1111/j.1463-5224.2005.00358.x.
1996 Vanderwoerdt, A., Gilger, B.C., Wilkie, D.A. :
Penetrating keratoplasty for treatment of recurrent squamous cell carcinoma of the cornea in a horse Journal of the American Veterinary Medical Association 208:1692 ff., 1996.
1991 Dugan, S.J., Curtis, C.R., Roberts, S.M., Severin, G.A. :
Epidemiologic study of ocular/adnexal squamous cell carcinoma in horses. J Am Vet Med Assoc 198:251-6, 1991. Pubmed reference: 2004985.
Dugan, S.J., Roberts, S.M., Curtis, C.R., Severin, G.A. :
Prognostic factors and survival of horses with ocular/adnexal squamous cell carcinoma: 147 cases (1978-1988). J Am Vet Med Assoc 198:298-303, 1991. Pubmed reference: 2004996.
1987 Schwink, K. :
Factors influencing morbidity and outcome of equine ocular squamous cell carcinoma. Equine Vet J 19:198-200, 1987. Pubmed reference: 3608956.
1978 Eversole, T.G., Lavach, J.D. :
Primary ocular squamous cell carcinoma with metastasis in a horse. Vet Med Small Anim Clin 73:287-90, 1978. Pubmed reference: 247797.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 11 May 2017