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Somatic mutations of triple-negative breast cancer: a comparison between Black and White women

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Abstract

Purpose

Understanding the contribution of tumor genome biology to racial disparities of triple-negative breast cancer (TNBC) is important for narrowing the cancer mortality gap between Black and White women.

Methods

We evaluated tumor somatic mutations using targeted sequencing of a customized panel of 151 genes and 15 copy number variations (CNVs) within a population of 133 TNBC patients, including 71 Black and 62 White women.

Results

The overall mutational burden between Black and White women with TNBC was not significantly different, with a median of 5 somatic changes per patient (point mutations and CNVs combined) for the customized panel (range 1–31 for Blacks vs. 1–26 for Whites; p = 0.76). Of the 151 genes examined, none were mutated at a significantly higher frequency in Black than in White cases, whereas two genes were mutated at a higher frequency in White cases—PIK3CA and NCOR1. No significant difference in the frequency of CNVs was observed between Black and White women with TNBC in our study population.

Conclusion

Of gene mutations and CNVs in TNBC tumors from Black and White women, only PIK3CA and NCOR1 had significantly different, although slight, frequencies by race. These results indicate that overall differences observed in the mutation spectra between Black and White women with breast cancer are likely due to the differential distributions of breast cancer subtypes by race.

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Fig. 1
Fig. 2

Data availability

All data generated or analyzed during this study are included in this published article in the supplementary information files or available from the author upon request.

Abbreviations

CNV:

Copy number variation

ER:

Estrogen receptor

GSR:

Genomics Shared Resource

HER2:

Receptor tyrosine-protein kinase erbB-2

PR:

Progesterone receptor

TCGA:

The Cancer Genome Atlas

TNBC:

Triple-negative breast cancer

WCHS:

Women’s Circle of Health Study

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Acknowledgements

This work was supported by the Breast Cancer Research Foundation and the National Cancer Institute (R01 CA100598, R01 CA133264, P01 CA151135, and used Roswell Park Comprehensive Cancer Center’s Pathology Network Shared Resource, Genomics Shared Resource, and Data Bank and BioRepository (P30 CA016056).

Author information

Authors and Affiliations

  1. Department of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Center, Elm & Carlton Streets, Buffalo, NY, 14263, USA

    Angela R. Omilian, Chi-Chen Hong, Christine B. Ambrosone & Song Yao

  2. Department of Biostatistics and Bioinformatics, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA

    Lei Wei & Song Liu

  3. Cancer Prevention and Control Program, Rutgers Cancer Institute of New Jersey, The State University of New Jersey, New Brunswick, NJ, USA

    Elisa V. Bandera

  4. Department of Pathology, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA

    Thaer Khoury

Authors
  1. Angela R. Omilian
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  2. Lei Wei
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  3. Chi-Chen Hong
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  4. Elisa V. Bandera
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  5. Song Liu
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  6. Thaer Khoury
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  7. Christine B. Ambrosone
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  8. Song Yao
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Contributions

All authors contributed to the successful completion of this study. Conceptualization: Christine Ambrosone and Song Yao; Methodology: Lei Wei, Chi-Chen Hong, Elisa Bandera, Song Liu, and Thaer Khoury; Formal analysis: Angela Omilian, Lei Wei, Song Liu, Christine Ambrosone, and Song Yao; Writing: Angela Omilian and Song Yao; Funding acquisition: Christine Ambrosone, and Song Yao; Supervision: Christine Ambrosone and Song Yao. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Angela R. Omilian.

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Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

The Institutional Review Boards at Rutgers University and Roswell Park Comprehensive Cancer Center provided approval for the use of patient samples in this study. All participants gave informed consent and this study was performed in accordance with the ethical standards outlined in the 1964 Declaration of Helsinki.

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Omilian, A.R., Wei, L., Hong, CC. et al. Somatic mutations of triple-negative breast cancer: a comparison between Black and White women. Breast Cancer Res Treat 182, 503–509 (2020). https://doi.org/10.1007/s10549-020-05693-4

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  • DOI: https://doi.org/10.1007/s10549-020-05693-4

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