Genetic variants in African‑American and Hispanic patients with breast cancer
- Pranabananda Dutta
- Man Y. Keung
- Yanyuan Wu
- Jaydutt V. Vadgama
Affiliations: Division of Cancer Research and Training, Charles R. Drew University of Medicine and Science, Los Angeles, CA 90059, USA
- Published online on: December 16, 2022 https://doi.org/10.3892/ol.2022.13637
Copyright: © Dutta
et al. This is an open access article distributed under the
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Breast cancer is a disease with significant health disparity affecting mortality in minority women. The present study examined the genetic makeup of breast cancers in African‑American and Hispanic/Latinx patients to determine specific genetic mutations associated with breast cancer in the minority population from South Los Angeles, United States. Whole‑exome sequencing was performed on DNA extracted from breast cancer tumor biopsies collected from 13 African‑American and 15 Hispanic women and 8 matched‑normal samples for each ethnic category. The results were analyzed using Ensemble Variant Effect Predictor and Mutation Significance. Additionally, a comparative analysis with The Cancer Genome Atlas data was provided. Our data revealed somatic mutations in genes such as SET domain containing (lysine methyltransferase) 8, serine protease 1 and AT‑rich interaction domain 1B (ARID1B) and known breast cancer genes, such as BRCA1/2, TP53 and the DNA damage response genes across all ethnicities. Additionally, Hispanic patients had BRCA1 associated RING domain 1B (BARD1) variants, while African‑American patients had higher numbers of nonsynonymous variants in the RAD51 paralog B (RAD51B), ARID1B and X‑ray repair cross complementing 3 (XRCC3) genes. In addition, our patients exhibited mutational signature enrichment that indicated DNA homologous recombination repair deficiencies. Therefore, African‑American and Hispanic breast cancer samples showed considerable overlap in breast cancer genetic mutations. However, there are differences in specific genetic variants in TP53, BRCA1/2, BARD1 or ARID1B, which will require further study of their role in tumorigenesis.