02091-A: Differentiating between Localized and Disseminated Histiocytic Sarcoma in Bernese Mountain Dogs

Grant Status: Closed

Grant Amount: $10,300
Elaine A Ostrander, PhD; National Human Genome Research Institute
August 1, 2014 - July 31, 2015

Sponsor(s): Berner Lovers

Breed(s): Bernese Mountain Dog
Research Program Area: Oncology
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Project Summary

Histiocytic sarcomas are highly aggressive cancers, often appearing as multiple tumors distributed throughout the body, making them very difficult to anticipate or treat. Though the disease is rare in the general dog population, histiocytic sarcoma is very common in Bernese mountain dogs and Flat-coated retrievers, and has been identified in Rottweilers and Golden retrievers at rates higher than the general population. In order to find the mutations within these breeds that are responsible for the development of HS we have sequenced the entire genome of six dogs with histiocytic sarcoma from three breeds. By comparing these sequences to 78 genomes from unaffected breeds, including the BMDs close cousin the Greater Swiss mountain dog, we have identified rare variants that appear only in affected dogs. The initial analysis of these genomes has identified a new region on chromosome 34 that is unique to affected BMD and Rottweilers that has not been identified through GWAS studies. Additional analyses are underway and are expected to provide new insights into the genetic basis of HS susceptibility. The identification of the specific mutations that lead to histiocytic sarcoma will enable the development of genetic tests for early detection and improved breeding strategies as well as increase the treatment options for dogs that have been affected.


Schoenebeck, J. J., & Ostrander, E. A. (2014). Insights into Morphology and Disease from the Dog Genome Project. Annual Review of Cell and Developmental Biology, 30(1), 535–560. https://doi.org/10.1146/annurev-cellbio-100913-012927

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