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Observational Study
. 2024 Dec 2;7(12):e2449798.
doi: 10.1001/jamanetworkopen.2024.49798.

West African Genetic Ancestry and Breast Cancer Outcomes Among Black Women

Sonya Reid  1 , Run Fan  2 , Lindsay Venton  1 , Anne Weidner  1 , Ann Tezak  1 , Mya L Roberson  3 , Susan Vadaparampil  4 , Xuefeng Wang  4 , Sean Yoder  4 , Marilin Rosa  4 , Jibril Hirbo  1 , Jennifer G Whisenant  1 , Jennifer Pietenpol  5 , Padma Sheila Rajagopal  6 , Brian Lehmann  1 , Fei Ye  2 , Tuya Pal  1
Affiliations
Observational Study

West African Genetic Ancestry and Breast Cancer Outcomes Among Black Women

Sonya Reid et al. JAMA Netw Open. .

Abstract

Importance: Young Black women bear a disproportionate burden of breast cancer deaths compared with White women, yet they remain underrepresented in genomic studies.

Objective: To evaluate the association of biological factors, including West African genetic ancestry, and nonbiological factors with disease-free survival (DFS) among young Black women with breast cancer.

Design, setting, and participants: This observational cohort study included Black women diagnosed with invasive breast cancer between January 1, 2005, and December 31, 2016. Participants diagnosed with breast cancer at age 50 years or younger were recruited through the Florida and Tennessee state cancer registries. The final analysis was completed between June and September 2024.

Exposure: West African genetic ancestry.

Main outcomes and measures: A multivariable model was developed to evaluate the association between West African genetic ancestry and breast cancer DFS, adjusting for immunohistochemistry subtype, lymph node (LN) status, and full-time employment.

Results: This study included 687 Black women with early-stage invasive breast cancer. Their median age at diagnosis was 44 years (IQR, 38-47 years), and the median follow-up was 10 years (IQR, 7-11 years). In multivariable analysis, triple-negative breast cancer (TNBC) and LN involvement were associated with shorter breast cancer DFS (hazard ratio, 1.81 [95% CI, 1.20-2.73] and 1.77 [95% CI, 1.30-2.41], respectively), whereas full-time employment was associated with improved outcomes (hazard ratio, 0.44 [95% CI, 0.30-0.63]). Among the 551 participants for whom global genetic ancestry could be assessed, having a higher percentage of West African genetic ancestry was associated with shorter breast cancer DFS among 246 participants in the hormone receptor (HR)-positive/human epidermal growth factor receptor 2 (ERBB2 [formerly HER2])-negative subgroup (hazard ratio, 1.45 [95% CI, 1.04-2.04]). Of the 369 participants (53.7%) with PAM50 data available, basal (133 [36.0%]) and luminal B (107 [29.0%]) subtypes were the most common. Among the 179 patients with HR-positive/ERBB2-negative disease and PAM50 data available, luminal B and basal subtypes combined were also overrepresented (81 [45.3%] and 24 [13.4%], respectively) compared with luminal A (70 [39.1%]).

Conclusions and relevance: In this study of young Black women with breast cancer, having a higher percentage of West African genetic ancestry, TNBC, and LN involvement were associated with shorter breast cancer DFS. Interestingly, full-time employment was associated with improved breast cancer DFS. These findings highlight the importance of considering genetic ancestry beyond self-reported race and accounting for social determinants of health, in efforts to improve survival outcomes among Black women with breast cancer.

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Conflict of interest statement

Conflict of Interest Disclosures: Dr Reid reported receiving consulting fees from Novartis, AstraZeneca, Gilead, and Daiichi-Sankyo outside the submitted work. Dr Roberson reported receiving grants from the National Cancer Institute (NCI) and the American Association for Cancer Research, in partnership with Victoria’s Secret and Pelotonia, outside the submitted work. Dr Vadaparampil reported receiving grants from the NCI, the American Cancer Society, and the Florida Biomedical Research Program during the conduct of the study. Dr Rosa reported receiving grants from the National Institutes of Health (NIH) and consulting fees from AstraZeneca outside the submitted work. Dr Pietenpol reported receiving grants from the NCI and the Susan G. Komen Foundation during the conduct of the study. In addition, Dr Pietenpol reported having a patent issued (Markers of Triple-Negative Breast Cancer and Uses Thereof) outside the submitted work. Dr Lehmann reported having a patent issued (patent 11788147 assigned to Oncocyte Corp) outside the submitted work. No other disclosures were reported.

Figures

Figure 1.
Figure 1.. Study Schema
ERBB2 indicates human epidermal growth factor receptor 2 (formerly HER2); HR, hormone receptor; PAM50, prediction analysis of microarray 50.
Figure 2.
Figure 2.. Global Genetic Ancestry of 551 Participants With Breast Cancer
Figure 3.
Figure 3.. Kaplan-Meier Curves by Prediction Analysis of Microarray 50 (PAM50) Subtype
A, Overall cohort. B, Hormone receptor (HR)–positive/human epidermal growth factor receptor 2 (ERBB2 [formerly HER2])–negative cohort.
See this image and copyright information in PMC

References

    1. Giaquinto AN, Sung H, Miller KD, et al. . Breast cancer statistics, 2022. CA Cancer J Clin. 2022;72(6):524-541. doi:10.3322/caac.21754 - DOI - PubMed
    1. Silber JH, Rosenbaum PR, Clark AS, et al. . Characteristics associated with differences in survival among Black and White women with breast cancer. JAMA. 2013;310(4):389-397. doi:10.1001/jama.2013.8272 - DOI - PubMed
    1. Prieto D, Soto-Ferrari M, Tija R, et al. . Literature review of data-based models for identification of factors associated with racial disparities in breast cancer mortality. Health Syst (Basingstoke). 2018;8(2):75-98. doi:10.1080/20476965.2018.1440925 - DOI - PMC - PubMed
    1. Daly B, Olopade OI. A perfect storm: how tumor biology, genomics, and health care delivery patterns collide to create a racial survival disparity in breast cancer and proposed interventions for change. CA Cancer J Clin. 2015;65(3):221-238. doi:10.3322/caac.21271 - DOI - PubMed
    1. Alcaraz KI, Wiedt TL, Daniels EC, Yabroff KR, Guerra CE, Wender RC. Understanding and addressing social determinants to advance cancer health equity in the United States: a blueprint for practice, research, and policy. CA Cancer J Clin. 2020;70(1):31-46. doi:10.3322/caac.21586 - DOI - PubMed

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