Detection of breast cancer stem cell gene mutations in circulating free DNA during the evolution of metastases

Zhe Bin Liu, Nader E. Ezzedine, Agda K. Eterovic, Joe E. Ensor, Helen J. Huang, Joan Albanell, Dong S. Choi, Ana Lluch, Yi Liu, Federico Rojo, Helen Wong, Eduardo Martínez-Dueñas, Ángel Guerrero-Zotano, Zhi Min Shao, Jorge G. Darcourt, Gordon Mills, Bhuvanesh Dave, Jenny C. Chang

    Research output: Contribution to journalArticle

    Abstract

    Purpose: Limited knowledge exists on the detection of breast cancer stem cell (BCSC)-related mutations in circulating free DNA (cfDNA) from patients with advanced cancers. Identification of new cancer biomarkers may allow for earlier detection of disease progression and treatment strategy modifications. Methods: We conducted a prospective study to determine the feasibility and prognostic utility of droplet digital polymerase chain reaction (ddPCR)-based BCSC gene mutation analysis of cfDNA in patients with breast cancer. Results: Detection of quantitative BCSC gene mutation in cfDNA by ddPCR mirrors disease progression and thus may represent a valuable and cost-effective measure of tumor burden. We have previously shown that hematological and neurological expressed 1-like (HN1L), ribosomal protein L39 (RPL39), and myeloid leukemia factor 2 (MLF2) are novel targets for BCSC self-renewal, and targeting these genetic alterations could be useful for personalized genomic-based therapy. Conclusion: BCSC mutation detection in cfDNA may have important implications for diagnosis, prognosis, and serial monitoring.

    Original languageEnglish (US)
    JournalBreast Cancer Research and Treatment
    DOIs
    StateAccepted/In press - Jan 1 2019

    Keywords

    • Breast carcinoma
    • Droplet digital polymerase chain reaction
    • Metastasis
    • Mutation
    • Stem cell

    ASJC Scopus subject areas

    • Oncology
    • Cancer Research

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  • Cite this

    Liu, Z. B., Ezzedine, N. E., Eterovic, A. K., Ensor, J. E., Huang, H. J., Albanell, J., Choi, D. S., Lluch, A., Liu, Y., Rojo, F., Wong, H., Martínez-Dueñas, E., Guerrero-Zotano, Á., Shao, Z. M., Darcourt, J. G., Mills, G., Dave, B., & Chang, J. C. (Accepted/In press). Detection of breast cancer stem cell gene mutations in circulating free DNA during the evolution of metastases. Breast Cancer Research and Treatment. https://doi.org/10.1007/s10549-019-05374-x