Test Detail

Histiocytic sarcoma predisposition index in the Bernese Mountain Dog based on risk alleles at three main loci (CFA11, CFA5 and CFA14; 6 alleles) described by Hédan et al. (2021). It is NOT a diagnostic or individual predictive test.

Histiocytic sarcoma is an uncommon neoplasm but one with a high predisposition in the Bernese Mountain Dog. Hédan et al. (2021) described the risk loci in several breeds; no consolidated population allele frequencies are published.

Not applicable: it is a polygenic predisposition test, not a diagnostic test for disease. The result does not describe clinical signs.

The index is based on the risk loci for haematopoietic cancers identified by Hédan et al. (2021) through genome-wide association studies in several breeds. In the Bernese Mountain Dog, the accumulation of risk alleles at the three main loci (CFA11, CFA5 and CFA14) was markedly associated with histiocytic sarcoma. The CDKN2A locus (CFA11) had already been previously linked to predisposition in the breed (Shearin et al. 2012).

Avoid matings between high-risk animals. A breeding dog with good qualities and high risk should not be automatically discarded: it can be mated to a low-risk animal. Selection should be guidance-based and reserved for breeders; the index does not predict the disease in a specific individual.

The index is a guidance breeding tool, not a diagnosis. A high-risk result does not mean the dog will develop the disease, and a low-risk result does not rule it out. Interpretation should be made together with the issuing laboratory.

1. Hédan B, Cadieu É, Rimbault M, et al. Identification of common predisposing loci to hematopoietic cancers in four dog breeds. PLoS Genet 2021. PMID:33793571.
2. Shearin AL, Hedan B, Cadieu E, et al. The MTAP-CDKN2A locus confers susceptibility to a naturally occurring canine cancer. Cancer Epidemiol Biomarkers Prev 2012. PMID:22623710.