Genetic Mutations Associated with Hormone-Positive Breast Cancer in a Small Cohort of Ethiopian Women


In Ethiopia, a breast cancer diagnosis is associated with a prognosis significantly worse than that of Europe and the US. Further, patients presenting with breast cancer in Ethiopia are far younger, on average, and patients are typically diagnosed at very late stages, relative to breast cancer patients of European descent. Emerging data suggest that a large proportion of Ethiopian patients have hormone-positive (ER+) breast cancer. This is surprising given (1) that patients have late-stage breast cancer at the time of diagnosis, (2) that African Americans with breast cancer frequently have triple negative breast cancer (TNBC), and (3) these patients typically receive chemotherapy, not hormone-targeting drugs. To further examine the similarity of Ethiopian breast tumors to those of African Americans or of those of European descent, we sequenced matched tumor and normal adjacent tissue from Ethiopian patients from a small pilot collection. We identified mutations in 615 genes across all three patients, unique to the tumor tissue. Across this analysis, we found far more mutations shared between Ethiopian patient tissue and that from white patients (103) than we did comparing to African Americans (3). Several mutations were found in extracellular matrix encoding genes with known roles in tumor cell growth and metastasis. We suggest future mechanistic studies on this disease focus on these genes first, toward finding new treatment strategies for breast cancer patients in Ethiopia.

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We thank Trisha Zintel for her help with sequencing. We thank Carey Dougan and Ning-Hsuan Tseng for reading and commenting on this manuscript. The results shown here are in whole or part based upon data generated by the TCGA Research Network: This work was supported by a seed grant awarded to SRP and CCB from the Models 2 Medicine Center, part of the Institute for Applied Life Sciences at UMass Amherst. ADS was supported by a National Science Foundation Graduate Research Fellowship (Award 1451512). This work was supported by an NSF CAREER (DMR1454806), and NIH grants R21CA223783 and DP2CA186573 awarded to SRP. Funding was also provided in part by a generous donation from the Giglio Family to the Wallace H. Coulter Department of Biomedical Engineering (MOP). SRP was also supported by a grant from the Jane Koskinas Ted Giovanis Foundation for Health and Policy. SRP is an Armstrong Professional Development Professor.

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Schwartz, A.D., Adusei, A., Tsegaye, S. et al. Genetic Mutations Associated with Hormone-Positive Breast Cancer in a Small Cohort of Ethiopian Women. Ann Biomed Eng (2021).

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  • Metastasis
  • BRCA
  • TCGA
  • MAPK
  • Extracellular matrix