OMIA 001787-9615 : Squamous cell carcinoma of the digit in Canis lupus familiaris |
Mendelian trait/disorder:
no
Mode of inheritance:
Multifactorial
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2013
Species-specific symbol:
SCCD
Mapping:
A GWAS with the Affymetrix v2 Canine SNP Chip conducted by Karyadi et al. (2013) on 31 affected (dark-coloured) Standard Poodles and 34 unrelated black Standard Poodles, followed by fine-mapping, highlighted a 28.3kb region on chromosome CFA15, in which KITLG resides.
Molecular basis:
Karyadi et al. (2013) identified a copy number variant (CNV) of KITLG that is very strongly associated with SCCD in (dark-coloured) Standard Poodles. Interestingly, light-coloured Standard Poodles have the same CNV at the same frequency, but are not affected, which suggests an interaction between KITLG and a coat-colour gene (Karyadi et al., 2013). A GWAS with the Illumina CanineHD BeadChip on 24 dark-coloured and 24 light-coloured Standard Poodles implicated variation at the coat-colour gene MC1R as the only difference between the two types of Standard Poodles.
Clinical features:
As summarised by Karyadi et al. (2013), SCCD is a "locally aggressive cancer that causes lytic bone lesions, sometimes with multiple toe recurrence".
Prevalence:
As mentioned above, only dark-coloured Standard Poodles are susceptible; light-coloured dogs of the same breed are rarely affected.
Breed:
Standard Poodle.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| KITLG | KIT ligand | Canis lupus familiaris | 15 | NC_006597.3 (29671985..29591068) | KITLG | Homologene, Ensembl, NCBI gene |
Variants
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Standard Poodle | Squamous cell carcinoma of the digit | KITLG | repeat variation | a copy number variant (CNV) of KITLG | 2013 | 23555311 |
References
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.
| 2016 | Marsden, C.D., Ortega-Del Vecchyo, D., O'Brien, D.P., Taylor, J.F., Ramirez, O., Vilà, C., Marques-Bonet, T., Schnabel, R.D., Wayne, R.K., Lohmueller, K.E. : | |
| Bottlenecks and selective sweeps during domestication have increased deleterious genetic variation in dogs. Proc Natl Acad Sci U S A 113:152-7, 2016. Pubmed reference: 26699508. DOI: 10.1073/pnas.1512501113. | ||
| 2014 | Davis, B.W., Ostrander, E.A. : | |
| Domestic dogs and cancer research: a breed-based genomics approach. ILAR J 55:59-68, 2014. Pubmed reference: 24936030. DOI: 10.1093/ilar/ilu017. | ||
| 2013 | Karyadi, D.M., Karlins, E., Decker, B., Vonholdt, B.M., Carpintero-Ramirez, G., Parker, H.G., Wayne, R.K., Ostrander, E.A. : | |
| A Copy Number Variant at the KITLG Locus Likely Confers Risk for Canine Squamous Cell Carcinoma of the Digit. PLoS Genet 9:e1003409, 2013. Pubmed reference: 23555311. DOI: 10.1371/journal.pgen.1003409. | ||
| 2008 | Goldschmidt, M., Hendrick, M. : | |
| Tumors of the Skin and Soft Tissues. In: Tumors in Domestic Animals. Meuten DJ, editor. Ames, Iowa: Iowa State University Press :45–119, 2008. | ||
| 2007 | Wobeser, B.K., Kidney, B.A., Powers, B.E., Withrow, S.J., Mayer, M.N., Spinato, M.T., Allen, A.L. : | |
| Agreement among surgical pathologists evaluating routine histologic sections of digits amputated from cats and dogs. J Vet Diagn Invest 19:439-43, 2007. Pubmed reference: 17609360. | ||
| 2005 | Henry, C.J., Brewer, W.G., Whitley, E.M., Tyler, J.W., Ogilvie, G.K., Norris, A., Fox, L.E., Morrison, W.B., Hammer, A., Vail, D.M., Berg, J. : | |
| Canine digital tumors: a veterinary cooperative oncology group retrospective study of 64 dogs. J Vet Intern Med 19:720-4, 2005. Pubmed reference: 16231717. | ||
| 1995 | Marino, D.J., Matthiesen, D.T., Stefanacci, J.D., Moroff, S.D. : | |
| Evaluation of dogs with digit masses: 117 cases (1981-1991). J Am Vet Med Assoc 207:726-8, 1995. Pubmed reference: 7657570. | ||
| 1992 | O'Brien, M.G., Berg, J., Engler, S.J. : | |
| Treatment by digital amputation of subungual squamous cell carcinoma in dogs: 21 cases (1987-1988) J Am Vet Med Assoc 201:759-61, 1992. Pubmed reference: 1399782. | ||
| 1989 | Paradis, M., Scott, D.W., Breton, L. : | |
| Squamous cell carcinoma of the nail bed in three related giant schnauzers. Vet Rec 125:322-4, 1989. Pubmed reference: 2800263. | ||
| 1984 | Goldschmidt, M.H. : | |
| Basal- and squamous-cell neoplasms of dogs and cats. Am J Dermatopathol 6:199-206, 1984. Pubmed reference: 6731733. | ||
| 1983 | Frese, K., Frank, H., Eskens, U. : | |
| [Squamous cell carcinoma of the toes in dogs]. Dtsch Tierarztl Wochenschr 90:359-63, 1983. Pubmed reference: 6354679. |
Edit History
- Created by Frank Nicholas on 23 Apr 2013
- Changed by Frank Nicholas on 23 Apr 2013