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 Edward Ensor, Jr.; 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 Darcourt; Gordon B. Mills; Bhuvanesh Dave; Jenny C. Chang

doi:10.1007/s10549-019-05374-x

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 Edward Ensor, Jr., 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 Darcourt, Gordon B. Mills, Bhuvanesh Dave, Jenny C. Chang

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

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 language	English (US)
Pages (from-to)	251-261
Number of pages	11
Journal	Breast Cancer Research and Treatment
Volume	178
Issue number	2
DOIs	https://doi.org/10.1007/s10549-019-05374-x
State	Published - Nov 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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Liu, Z. B., Ezzedine, N. E., Eterovic, A. K., Ensor, Jr., 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., Mills, G. B., Dave, B., & Chang, J. C. (2019). Detection of breast cancer stem cell gene mutations in circulating free DNA during the evolution of metastases. Breast Cancer Research and Treatment, 178(2), 251-261. https://doi.org/10.1007/s10549-019-05374-x

Liu, ZB, Ezzedine, NE, Eterovic, AK, Ensor, Jr., JE, Huang, HJ, Albanell, J, Choi, DS, Lluch, A, Liu, Y, Rojo, F, Wong, H, Martínez-Dueñas, E, Guerrero-Zotano, Á, Shao, ZM, Darcourt, J, Mills, GB, Dave, B & Chang, JC 2019, 'Detection of breast cancer stem cell gene mutations in circulating free DNA during the evolution of metastases', Breast Cancer Research and Treatment, vol. 178, no. 2, pp. 251-261. https://doi.org/10.1007/s10549-019-05374-x

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

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.",

keywords = "Breast carcinoma, Droplet digital polymerase chain reaction, Metastasis, Mutation, Stem cell",

author = "Liu, {Zhe Bin} and Ezzedine, {Nader E.} and Eterovic, {Agda K.} and {Ensor, Jr.}, {Joe Edward} and Huang, {Helen J.} and Joan Albanell and Choi, {Dong S.} and Ana Lluch and Yi Liu and Federico Rojo and Helen Wong and Eduardo Mart{\'i}nez-Due{\~n}as and {\'A}ngel Guerrero-Zotano and Shao, {Zhi Min} and Jorge Darcourt and Mills, {Gordon B.} and Bhuvanesh Dave and Chang, {Jenny C.}",

note = "Funding Information: This work was supported by a 2013 Conquer Cancer Foundation of ASCO Long-term International Fellowship (LIFe) in Breast Cancer, supported by The Breast Cancer Research Foundation. Funding Information: Any opinions, findings, and conclusions expressed in this materials are those of the author(s) and do not necessarily reflect those of the American Society of Clinical Oncology? or the Conquer Cancer Foundation, or The Breast Cancer Research Foundation. We would like to thank Dr. Ana Mar?a Gonz?lez-Angulo from MD Anderson Hospital who identified the samples from GEICAM investigators. Publisher Copyright: {\textcopyright} 2019, Springer Science+Business Media, LLC, part of Springer Nature.",

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doi = "10.1007/s10549-019-05374-x",

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T1 - Detection of breast cancer stem cell gene mutations in circulating free DNA during the evolution of metastases

AU - Liu, Zhe Bin

AU - Ezzedine, Nader E.

AU - Eterovic, Agda K.

AU - Ensor, Jr., Joe Edward

AU - Huang, Helen J.

AU - Albanell, Joan

AU - Choi, Dong S.

AU - Lluch, Ana

AU - Liu, Yi

AU - Rojo, Federico

AU - Wong, Helen

AU - Martínez-Dueñas, Eduardo

AU - Guerrero-Zotano, Ángel

AU - Shao, Zhi Min

AU - Darcourt, Jorge

AU - Mills, Gordon B.

AU - Dave, Bhuvanesh

AU - Chang, Jenny C.

N1 - Funding Information: This work was supported by a 2013 Conquer Cancer Foundation of ASCO Long-term International Fellowship (LIFe) in Breast Cancer, supported by The Breast Cancer Research Foundation. Funding Information: Any opinions, findings, and conclusions expressed in this materials are those of the author(s) and do not necessarily reflect those of the American Society of Clinical Oncology? or the Conquer Cancer Foundation, or The Breast Cancer Research Foundation. We would like to thank Dr. Ana Mar?a Gonz?lez-Angulo from MD Anderson Hospital who identified the samples from GEICAM investigators. Publisher Copyright: © 2019, Springer Science+Business Media, LLC, part of Springer Nature.

PY - 2019/11/1

Y1 - 2019/11/1

N2 - 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.

AB - 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.

KW - Breast carcinoma

KW - Droplet digital polymerase chain reaction

KW - Metastasis

KW - Mutation

KW - Stem cell

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JO - Breast Cancer Research and Treatment

JF - Breast Cancer Research and Treatment

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

Abstract

Keywords

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