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Impact of tissue-based genomic profiling on clinical decision making in the management of patients with metastatic breast cancer at academic centers

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Abstract

Background

Genomic profiling can identify targetable mutations; however, the impact of tissue-based genomic profiling on clinical decision making for patients with metastatic breast cancer has not been well characterized.

Methods

Patients with stage IV breast cancer who had undergone genomic profiling between 7/2013 and 3/2015 were identified at three academic cancer centers. Genomic analysis was determined to have impacted clinical decision if (A) a patient was enrolled onto a genotype-matched clinical trial or (B) prescribed off-label an FDA-approved therapy targeting an identified mutation. The frequency of mutated genes was determined.

Results

A total of 117 patients with stage IV breast cancer were identified. Median age was 46 (25–75). Fifty-three patients (45%) had ER-positive/HER2-negative disease, 50 (43%) had ER-negative/HER2-negative disease, and 14 (12%) had ER-any/HER2-positive disease. Median number of previous therapies received prior to genomic profiling was 2 (range 0–15), and median follow-up after testing was obtained after 5.8 months (range 0–24.4 months). Commercial reports indicated that 85 (73%) patients had at least one mutation targetable by an FDA-approved medication, and 112 (96%) patients had at least one clinical trial available; however, clinical management was only affected in 11 patients (9%). The most frequent mutations observed were those in TP53, FGF, PI3KCA, MYC, ZNF, FGFR, CCND, ARID1A, GATA3, and MAP; frequencies of these mutations varied by clinical subtype.

Conclusions

Tumor genomic profiling affected clinical management in a minority of patients with metastatic breast cancer, thus these data do not support the routine use of genomic profiling outside of a clinical trial.

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Authors and Affiliations

  1. Robert H. Lurie Comprehensive Cancer Center, Northwestern University Feinberg School of Medicine, 676 North St. Clair, Suite 880, Chicago, IL, 60611, USA

    Cesar A. Santa-Maria, Martin B. Mutonga & Sarika Jain

  2. Cleveland Clinic Foundation, Taussig Cancer Institute, Cleveland, OH, USA

    Megan Kruse, Paola Raska, Jame Abraham & Alberto J. Montero

  3. University of Chicago, Chicago, IL, USA

    Mia Weiss, April Swoboda & Rita Nanda

Authors
  1. Cesar A. Santa-Maria
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  2. Megan Kruse
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  3. Paola Raska
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  4. Mia Weiss
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  5. April Swoboda
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  6. Martin B. Mutonga
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  7. Jame Abraham
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  8. Sarika Jain
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  9. Rita Nanda
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  10. Alberto J. Montero
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Corresponding author

Correspondence to Cesar A. Santa-Maria.

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Conflict of interest

Cesar Santa-Maria has received research funding form Pfizer and Medimmune. All other authors have no conflicts of interest to declare.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

For this retrospective study, the institutional review board determined consent was not required; no prospective data were collected.

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Santa-Maria, C.A., Kruse, M., Raska, P. et al. Impact of tissue-based genomic profiling on clinical decision making in the management of patients with metastatic breast cancer at academic centers. Breast Cancer Res Treat 166, 179–184 (2017). https://doi.org/10.1007/s10549-017-4415-1

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  • DOI: https://doi.org/10.1007/s10549-017-4415-1

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