TY - JOUR
T1 - Genetic Mutations Associated with Hormone-Positive Breast Cancer in a Small Cohort of Ethiopian Women
AU - Schwartz, Alyssa D.
AU - Adusei, Afua
AU - Tsegaye, Solomon
AU - Moskaluk, Christopher A.
AU - Schneider, Sallie S.
AU - Platt, Manu O.
AU - Seifu, Daniel
AU - Peyton, Shelly R.
AU - Babbitt, Courtney C.
N1 - Publisher Copyright:
© 2021, Biomedical Engineering Society.
PY - 2021/8
Y1 - 2021/8
N2 - 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.
AB - 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.
KW - BRCA
KW - Extracellular matrix
KW - MAPK
KW - Metastasis
KW - TCGA
UR - http://www.scopus.com/inward/record.url?scp=85108068771&partnerID=8YFLogxK
U2 - 10.1007/s10439-021-02800-4
DO - 10.1007/s10439-021-02800-4
M3 - Article
C2 - 34142276
AN - SCOPUS:85108068771
SN - 0090-6964
VL - 49
SP - 1900
EP - 1908
JO - Annals of Biomedical Engineering
JF - Annals of Biomedical Engineering
IS - 8
ER -