|Affected breeds:||Haflinger Horse, Belgian Draft, Percheron, Rocky Mountain, Connemara Pony and others
|Description:||Squamous Cell Carcinoma risk Genetic Testing
This test detects a missense mutation in the DDB2 gene (c.1013 C > T p.Thr338Met).
Squamous Cell Carcinoma
incl. 19% VAT
→ A malignant tissue formation (tumor) that develops from the superficial layers of the skin and mucous membranes.
Instructions for ordering:
- Enter the information of the first horse for which you want to order the test
- Add to cart
- Go to cart to check out, or
- Enter the information for a second horse
- For sample collection follow the instructions here.
- You can use this template to send in hair samples.
- Please also send the completed order form together with the samples.
For a breeder or veterinarian discount please contact us before ordering.
Any information you include here is optional, but will be included on the certificate of results (except “Additional Info”).
- Most common type of eye cancer in horses.
- This test identifies a gene mutation that increases the risk of developing an SCC. → Risk Test
- Due to this mutation in the DNA, the DDB2 protein, which is responsible for DNA repair in UV light damage, is not correctly formed.
- SCC is particularly common in Haflinger Horses due to the frequent occurrence of this mutation in the breed.
- It has also been described in Belgian draft horses and Pecherons.
- Slowly growing malignant skin neoplasms.
- Especially mucous membranes are affected.
- Development of eye cancer.
- Impairment or loss of the eye.
Inheritance and Genotypes
Inheritance: autosomal recessive
→ The risk of developing SCC is increased if both copies of the gene (scc/scc) are affected by the mutation. Animals with only one copy (N/scc) are clinically normal carriers.
|Genotype:||The horse is/has:
|N/N||normal.||The horse has no copies of the genetic variant causative for SCC and therefore cannot pass it on to its offspring.
|N/scc||a carrier.||The horse is clinically healthy. The genetic variant causative for CSS will be passed on to its offspring with a probability of 50%.|
|scc/scc||a risk.||The horse has an increased risk of developing SCC. The mutation will be passed on to its offspring with a probability of 100%.|
- Carriers may be bred to normal animals (N/scc x N/N) without any risk of producing at risk offspring. The offspring should also be tested before breeding to determine if they are carriers or normal.
- When breeding two carriers (N/scc x N/scc), there is a probability of 25% for each foal to inherit two copies of the mutation (scc/scc) and therefore having an increased risk of developing SCC. This should be taken into consideration when planning breedings.
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.
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.