OMIA:001916-9615 : Familial adenomatous polyposis in Canis lupus familiaris
In other species: pig
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 175100 (trait) , 611731 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2020
Molecular basis: Yoshizaki et al. (2020) reported that "all examined JRTs with GI polyps (n=21) harbored the identical heterozygous germline APC mutations, represented by a two-base pair substitution [c.[462_463delinsTT]]. The latter substitution was a nonsense mutation (p.K155X) resulting in a truncated APC protein, thus suggesting a strong association with this cancer-prone disorder."
Prevalence: From a sample of 792 Jack Russel Terriers (JRTs) from 93 Japanese veterinary clinics, Yoshizaki et al. (2022) reported that "The current frequency of the germline APC variant [c.[462_463delinsTT]; OMIA variant 1206] was approximately 2% in JRTs in Japan and the frequency remained roughly flat during the last 15 years. In addition, hereditary GI polyposis associated with the variant was virtually specific to JRTs."
Genetic testing: Yoshizaki et al. (2021) reported a PCR-based genotyping test for the c.[462_463delinsTT] variant.
Breed: Jack Russell Terrier.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|APC||adenomatous polyposis coli||Canis lupus familiaris||3||NC_051807.1 (224101..93843)||APC||Homologene, Ensembl , NCBI gene|
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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|
|1206||Jack Russell Terrier||Familial Adenomatous Polyposis||APC||delins, small (<=20)||Naturally occurring variant||CanFam3.1||3||g.312131_312132delinsAA||c.[462_463delinsTT]||p.(K155X)||XM_014111995.2; XP_013967470.1||2020||32445578||Reference assembly and genomic location kindly provided by Kyoko Yoshizaki, 17 Dec 2020|
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.
|2022||Yoshizaki, K., Hirata, A., Matsushita, H., Sakaguchi, M., Yoneji, W., Owaki, K., Sakai, H. :|
|Molecular epidemiological study of germline APC variant associated with hereditary gastrointestinal polyposis in dogs: current frequency in Jack Russell Terriers in Japan and breed distribution. BMC Vet Res 18:230, 2022. Pubmed reference: 35717217 . DOI: 10.1186/s12917-022-03338-w.|
|2021||Yoshizaki, K., Hirata, A., Matsushita, H., Nishii, N., Kawabe, M., Mori, T., Sakai, H. :|
|PCR-based genotyping assays to detect germline APC variant associated with hereditary gastrointestinal polyposis in Jack Russell terriers. BMC Vet Res 17:32, 2021. Pubmed reference: 33461531 . DOI: 10.1186/s12917-020-02731-7.|
|2020||Yoshizaki, K., Hirata, A., Nishii, N., Kawabe, M., Goto, M., Mori, T., Sakai, H. :|
|Familial adenomatous polyposis in dogs: Hereditary gastrointestinal polyposis in Jack Russell terriers with germline APC mutations. Carcinogenesis 42:70-9, 2020. Pubmed reference: 32445578 . DOI: 10.1093/carcin/bgaa045.|
- Created by Frank Nicholas on 02 Jun 2020
- Changed by Frank Nicholas on 22 Jan 2021
- Changed by Frank Nicholas on 20 Jun 2022