OMIA:001787-9615 : Squamous cell carcinoma of the digit in Canis lupus familiaris |
Categories: Neoplasm , Limbs / digit / tail phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 184745 (gene)
Links to MONDO diseases: No links.
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.
Aupperle-Lellbach (2023) investigated the KITLG CNV in giant (GS), standard (SS), and miniature (MS) Schnauzers and compared KITLG CNV between black GS with and without digital squamous cell carcinoma (dSCC): " Blood samples from black GS (22 with and 17 without dSCC), black SS (18 with and 4 without dSSC; 5 unknown), and 50 MS (unknown dSSC status and coat colour) were analysed by digital droplet PCR. ... most dogs had a copy number (CN) value > 4 (range 2.5-7.6) with no significant differences between GS, SS, and MS, and ... the CN value in black GS with dSCC was significantly higher than in those without dSCC (p = 0.02)."
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.
Breeds: Giant Schnauzer, Standard Poodle.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| KITLG | KIT ligand | Canis lupus familiaris | 15 | NC_051819.1 (30311189..30230533) | KITLG | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 757 | Standard Poodle | Squamous cell carcinoma of the digit | KITLG | repeat variation | Naturally occurring variant | 15 | 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.
| 2023 | Aupperle-Lellbach, H., Heidrich, D., Kehl, A., Conrad, D., Brockmann, M., Törner, K., Beitzinger, C., Müller, T. : |
| KITLG copy number germline variations in Schnauzer breeds and their relevance in digital squamous cell carcinoma in black giant Schnauzers. Vet Sci 10:, 2023. Pubmed reference: 36851451 . DOI: 10.3390/vetsci10020147. | |
| Cerezo-Echevarria, A., Kehl, A., Beitzinger, C., Müller, T., Klopfleisch, R., Aupperle-Lellbach, H. : | |
| Evaluating the histologic grade of digital squamous cell carcinomas in dogs and copy number variation of KIT Ligand-A correlation study. Vet Sci 10:, 2023. Pubmed reference: 36851392 . DOI: 10.3390/vetsci10020088. | |
| 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
- Changed by Imke Tammen2 on 01 Mar 2023