Genetic variants in African-American and Hispanic patients with breast cancer.

Autor:	Dutta P; Division of Cancer Research and Training, Charles R. Drew University of Medicine and Science, Los Angeles, CA 90059, USA., Keung MY; Division of Cancer Research and Training, Charles R. Drew University of Medicine and Science, Los Angeles, CA 90059, USA., Wu Y; Division of Cancer Research and Training, Charles R. Drew University of Medicine and Science, Los Angeles, CA 90059, USA.; David Geffen UCLA School of Medicine, Jonsson Comprehensive Cancer Center, University of California at Los Angeles, Los Angeles, CA 90095, USA., Vadgama JV; Division of Cancer Research and Training, Charles R. Drew University of Medicine and Science, Los Angeles, CA 90059, USA.; David Geffen UCLA School of Medicine, Jonsson Comprehensive Cancer Center, University of California at Los Angeles, Los Angeles, CA 90095, USA.
Jazyk:	angličtina
Zdroj:	Oncology letters [Oncol Lett] 2022 Dec 16; Vol. 25 (2), pp. 51. Date of Electronic Publication: 2022 Dec 16 (Print Publication: 2023).
DOI:	10.3892/ol.2022.13637
Abstrakt:	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. Competing Interests: The authors declare that they have no competing interests. (Copyright: © Dutta et al.)
Databáze:	MEDLINE
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