Background: Several evidences indicate that different racial and ethnic backgrounds affect the incidence and severity of diseases such as breast cancer and diabetes, and the response to therapy. For example White and African American women are more likely to develop breast cancer than Hispanic and Asian women. Moreover, African American women are more likely to develop more aggressive (Triple Negative Breast Cancer), more advanced-stage breast cancer at a young age. Therefore, given the health disparity and with the advance of personalized medicine, it is becoming critical to address population stratification. The Komen Tissue Bank at IU Simon Cancer Center (KTB), the only biobank of normal breast tissue from healthy women, is employing a more accurate approach to detect population stratification through the use of Ancestry Informative Markers (AIMs).

Methodology: A total of 2,973 DNA samples were obtained from the KTB. Genotyping was performed using the KASP technology (LGC Genomics) and a 41-SNP panel (labeled 41-AIM panel) selected from Nievergelt et al, 2013. Genotype analysis using the 41-AIM panel along with a Bayesian clustering method (STRUCTURE) was able to discern continental origins including European/ Middle East (Caucasian), East Asia, Central/South Asia, Africa, Americas, and Oceania. A reference set was obtained from the HeatMap. The results were compared with the self-reported data.

Results/Conclusion: Our genetic ancestry analysis indicates that out of 2,973 KTB tissue donors, 2,132 are primarily Caucasian, 532 African, 234 of Asian, 72 Latino, 3 Oceanic origins. High mixture of racial markers was observed in several samples. Moreover, when we compare these findings with the self-reported data we find a 10.9% of discrepancies indicating the imprecision of the self-reported information. The implementation of the genetic ancestry data into the KTB creates the potential for a more accurate study of health disparities.

Citation Format: Julia R. McCarty, Guanlong Jiang, Mariah L. Johnson, Teresa Mahin, Nicholas Scherer, Jonathon Dunn, Anna Maria Storniolo, Natascia Marino. Komen Tissue Bank donors: Genetically determined ethnicity and race [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2017; 2017 Apr 1-5; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2017;77(13 Suppl):Abstract nr 5281. doi:10.1158/1538-7445.AM2017-5281