Associations of social and genetic factors with sarcoma incidence and outcomes.

Thumbnail Image

Persistent link to this item

View Statistics

Journal Title

Journal ISSN

Volume Title


Associations of social and genetic factors with sarcoma incidence and outcomes.

Published Date




Thesis or Dissertation


The risk factors for the development or progression of sarcomas remain mostly obscure. This is largely due to the extreme rarity of the disease, oftentimes constraining investigators to evaluate histologically distinct sarcoma subtypes as a single group or else risk analyses of insufficiently low statistical power. In this dissertation, we aimed to evaluate the genetic and non-genetic risk factors for the development or progression of individually rare subtypes of sarcoma. The first project utilized the SEER Census Tract-level Socioeconomic Database to assess the associations of census tract-level socioeconomic status (CT-SES) or race/ethnicity on the incidence rates or odds of metastasis at diagnosis for sarcoma subtypes diagnosed across the age span. Overall, we found race/ethnicity to be more often associated with sarcoma incidence than CT-SES, particularly in younger age groups. Additionally, in adults, we found SES-related factors increased the odds of metastasis at diagnosis for several soft tissue sarcomas, but not bone sarcomas. In Project 2, we aimed to describe the contribution of common genetic variation to osteosarcoma (OS) development by leveraging a newly created dataset of open chromatin regions (OCR) of osteoblasts. We found an enrichment of OS-associated loci in these regions, indicating that several common variants contribute a weak or moderate effect on osteosarcoma development by altering regulatory mechanisms that localize to an osteoblast’s OCR. Lastly, we sought to determine the associations of risk alleles discovered by GWAS in Europeans and genetic ancestry on Ewing sarcoma (ES) risk in Latinos. We found the effect of these alleles generalize to Latinos. Additionally, we report a residual inverse association between African genomic ancestry and ES risk. These data indicate that other ancestry-specific genetic variants may influence ES susceptibility and explain the observed racial disparities. Overall, our findings add to the scientific knowledge of an exceedingly understudied group of cancers.


University of Minnesota Ph.D. dissertation. August 2020. Major: Epidemiology. Advisor: Logan Spector. 1 computer file (PDF); vii, 110 pages.

Related to




Series/Report Number

Funding information

Isbn identifier

Doi identifier

Previously Published Citation

Suggested citation

Diessner, Brandon. (2020). Associations of social and genetic factors with sarcoma incidence and outcomes.. Retrieved from the University Digital Conservancy,

Content distributed via the University Digital Conservancy may be subject to additional license and use restrictions applied by the depositor. By using these files, users agree to the Terms of Use. Materials in the UDC may contain content that is disturbing and/or harmful. For more information, please see our statement on harmful content in digital repositories.