A DNA methylation-based liquid biopsy for triple-negative breast cancer

Abstract Here, we present a next-generation sequencing (NGS) methylation-based blood test called methylation DETEction of Circulating Tumour DNA (mDETECT) designed for the optimal detection and monitoring of metastatic triple-negative breast cancer (TNBC). Based on a highly multiplexed targeted sequ...

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Autores principales:	Katrina Cristall, Francois-Clement Bidard, Jean-Yves Pierga, Michael J. Rauh, Tatiana Popova, Clara Sebbag, Olivier Lantz, Marc-Henri Stern, Christopher R. Mueller
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/ef969627e67f4e189931a3676d9f15a4
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spelling	oai:doaj.org-article:ef969627e67f4e189931a3676d9f15a42021-12-02T17:40:41ZA DNA methylation-based liquid biopsy for triple-negative breast cancer10.1038/s41698-021-00198-92397-768Xhttps://doaj.org/article/ef969627e67f4e189931a3676d9f15a42021-06-01T00:00:00Zhttps://doi.org/10.1038/s41698-021-00198-9https://doaj.org/toc/2397-768XAbstract Here, we present a next-generation sequencing (NGS) methylation-based blood test called methylation DETEction of Circulating Tumour DNA (mDETECT) designed for the optimal detection and monitoring of metastatic triple-negative breast cancer (TNBC). Based on a highly multiplexed targeted sequencing approach, this assay incorporates features that offer superior performance and included 53 amplicons from 47 regions. Analysis of a previously characterised cohort of women with metastatic TNBC with limited quantities of plasma (<2 ml) produced an AUC of 0.92 for detection of a tumour with a sensitivity of 76% for a specificity of 100%. mDETECTTNBC was quantitative and showed superior performance to an NGS TP53 mutation-based test carried out on the same patients and to the conventional CA15-3 biomarker. mDETECT also functioned well in serum samples from metastatic TNBC patients where it produced an AUC of 0.97 for detection of a tumour with a sensitivity of 93% for a specificity of 100%. An assay for BRCA1 promoter methylation was also incorporated into the mDETECT assay and functioned well but its clinical significance is currently unclear. Clonal Hematopoiesis of Indeterminate Potential was investigated as a source of background in control subjects but was not seen to be significant, though a link to adiposity may be relevant. The mDETECTTNBC assay is a liquid biopsy able to quantitatively detect all TNBC cancers and has the potential to improve the management of patients with this disease.Katrina CristallFrancois-Clement BidardJean-Yves PiergaMichael J. RauhTatiana PopovaClara SebbagOlivier LantzMarc-Henri SternChristopher R. MuellerNature PortfolioarticleNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENnpj Precision Oncology, Vol 5, Iss 1, Pp 1-13 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Katrina Cristall Francois-Clement Bidard Jean-Yves Pierga Michael J. Rauh Tatiana Popova Clara Sebbag Olivier Lantz Marc-Henri Stern Christopher R. Mueller A DNA methylation-based liquid biopsy for triple-negative breast cancer
description	Abstract Here, we present a next-generation sequencing (NGS) methylation-based blood test called methylation DETEction of Circulating Tumour DNA (mDETECT) designed for the optimal detection and monitoring of metastatic triple-negative breast cancer (TNBC). Based on a highly multiplexed targeted sequencing approach, this assay incorporates features that offer superior performance and included 53 amplicons from 47 regions. Analysis of a previously characterised cohort of women with metastatic TNBC with limited quantities of plasma (<2 ml) produced an AUC of 0.92 for detection of a tumour with a sensitivity of 76% for a specificity of 100%. mDETECTTNBC was quantitative and showed superior performance to an NGS TP53 mutation-based test carried out on the same patients and to the conventional CA15-3 biomarker. mDETECT also functioned well in serum samples from metastatic TNBC patients where it produced an AUC of 0.97 for detection of a tumour with a sensitivity of 93% for a specificity of 100%. An assay for BRCA1 promoter methylation was also incorporated into the mDETECT assay and functioned well but its clinical significance is currently unclear. Clonal Hematopoiesis of Indeterminate Potential was investigated as a source of background in control subjects but was not seen to be significant, though a link to adiposity may be relevant. The mDETECTTNBC assay is a liquid biopsy able to quantitatively detect all TNBC cancers and has the potential to improve the management of patients with this disease.
format	article
author	Katrina Cristall Francois-Clement Bidard Jean-Yves Pierga Michael J. Rauh Tatiana Popova Clara Sebbag Olivier Lantz Marc-Henri Stern Christopher R. Mueller
author_facet	Katrina Cristall Francois-Clement Bidard Jean-Yves Pierga Michael J. Rauh Tatiana Popova Clara Sebbag Olivier Lantz Marc-Henri Stern Christopher R. Mueller
author_sort	Katrina Cristall
title	A DNA methylation-based liquid biopsy for triple-negative breast cancer
title_short	A DNA methylation-based liquid biopsy for triple-negative breast cancer
title_full	A DNA methylation-based liquid biopsy for triple-negative breast cancer
title_fullStr	A DNA methylation-based liquid biopsy for triple-negative breast cancer
title_full_unstemmed	A DNA methylation-based liquid biopsy for triple-negative breast cancer
title_sort	dna methylation-based liquid biopsy for triple-negative breast cancer
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/ef969627e67f4e189931a3676d9f15a4
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A DNA methylation-based liquid biopsy for triple-negative breast cancer

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