Detection of TP53 and PIK3CA Mutations in Circulating Tumor DNA Using Next-Generation Sequencing in the Screening Process for Early Breast Cancer Diagnosis

Circulating tumor DNA (ctDNA) has emerged as a non-invasive "liquid biopsy" for early breast cancer diagnosis. We evaluated the suitability of ctDNA analysis in the diagnosis of early breast cancer after mammography findings, comparing PIK3CA and TP53 mutations between tumor biopsies and p...

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Autores: Rodriguez, BJ, Cordoba, GD, Aranda, AG, Alvarez, M, Vicioso, L, Perez, CL, Hernando, C, Bermejo, B, Parreno, AJ, Lluch, A, Ryder, MB, Jones, FS, Fredebohm, J, Holtrup, F, Queipo-Ortuno, MI, Alba, E
Tipo de documento: artigo
Estado:Versão publicada
Data de publicação:2019
País:España
Recursos:INCLIVA
Repositório:r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
OAI Identifier:oai:incliva.fundanetsuite.com:p3911
Acesso em linha:https://incliva.portalinvestigacion.com/publicaciones/3911
Access Level:Acceso aberto
Palavra-chave:breast cancer
circulating tumor DNA (ctDNA)
molecular profiling
liquid biopsy
early-stage cancer
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spelling Detection of TP53 and PIK3CA Mutations in Circulating Tumor DNA Using Next-Generation Sequencing in the Screening Process for Early Breast Cancer DiagnosisRodriguez, BJCordoba, GDAranda, AGAlvarez, MVicioso, LPerez, CLHernando, CBermejo, BParreno, AJLluch, ARyder, MBJones, FSFredebohm, JHoltrup, FQueipo-Ortuno, MIAlba, Ebreast cancercirculating tumor DNA (ctDNA)molecular profilingliquid biopsyearly-stage cancerCirculating tumor DNA (ctDNA) has emerged as a non-invasive "liquid biopsy" for early breast cancer diagnosis. We evaluated the suitability of ctDNA analysis in the diagnosis of early breast cancer after mammography findings, comparing PIK3CA and TP53 mutations between tumor biopsies and pre-biopsy circulating DNA. Matched plasma and frozen fresh tissue biopsies from patients with Breast Imaging-Reporting and Data System (BIRADS) 4c/5 mammography findings and subsequent diagnosis of primary breast cancer were analyzed using NGS TruSeq Custom Amplicon Low Input Panel (Illumina) and plasma SafeSEQ (Sysmex Inostics). The same plasma and tumor mutations were observed in eight of 29 patients (27.6%) with four in TP53 and five in PIK3CA mutations. Sequencing analysis also revealed four additional ctDNA mutations (three in TP53 and one in PIK3CA) previously not identified in three patients tissue biopsy. One of these patients had mutations in both genes. Age, tumor grade and size, immunohistochemical (IHC) subtype, BIRADS category, and lymph node positivity were significantly associated with the detectability of these blood tumor-derived mutations. In conclusion, ctDNA analysis could be used in early breast cancer diagnosis, providing critical clinical information to improve patient diagnosis.MDPI2019info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://incliva.portalinvestigacion.com/publicaciones/3911Journal of Clinical MedicineISSN: 20770383reponame:r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVAinstname:INCLIVAInglésinfo:eu-repo/semantics/openAccessoai:incliva.fundanetsuite.com:p39112026-06-07T16:35:31Z
dc.title.none.fl_str_mv Detection of TP53 and PIK3CA Mutations in Circulating Tumor DNA Using Next-Generation Sequencing in the Screening Process for Early Breast Cancer Diagnosis
title Detection of TP53 and PIK3CA Mutations in Circulating Tumor DNA Using Next-Generation Sequencing in the Screening Process for Early Breast Cancer Diagnosis
spellingShingle Detection of TP53 and PIK3CA Mutations in Circulating Tumor DNA Using Next-Generation Sequencing in the Screening Process for Early Breast Cancer Diagnosis
Rodriguez, BJ
breast cancer
circulating tumor DNA (ctDNA)
molecular profiling
liquid biopsy
early-stage cancer
title_short Detection of TP53 and PIK3CA Mutations in Circulating Tumor DNA Using Next-Generation Sequencing in the Screening Process for Early Breast Cancer Diagnosis
title_full Detection of TP53 and PIK3CA Mutations in Circulating Tumor DNA Using Next-Generation Sequencing in the Screening Process for Early Breast Cancer Diagnosis
title_fullStr Detection of TP53 and PIK3CA Mutations in Circulating Tumor DNA Using Next-Generation Sequencing in the Screening Process for Early Breast Cancer Diagnosis
title_full_unstemmed Detection of TP53 and PIK3CA Mutations in Circulating Tumor DNA Using Next-Generation Sequencing in the Screening Process for Early Breast Cancer Diagnosis
title_sort Detection of TP53 and PIK3CA Mutations in Circulating Tumor DNA Using Next-Generation Sequencing in the Screening Process for Early Breast Cancer Diagnosis
dc.creator.none.fl_str_mv Rodriguez, BJ
Cordoba, GD
Aranda, AG
Alvarez, M
Vicioso, L
Perez, CL
Hernando, C
Bermejo, B
Parreno, AJ
Lluch, A
Ryder, MB
Jones, FS
Fredebohm, J
Holtrup, F
Queipo-Ortuno, MI
Alba, E
author Rodriguez, BJ
author_facet Rodriguez, BJ
Cordoba, GD
Aranda, AG
Alvarez, M
Vicioso, L
Perez, CL
Hernando, C
Bermejo, B
Parreno, AJ
Lluch, A
Ryder, MB
Jones, FS
Fredebohm, J
Holtrup, F
Queipo-Ortuno, MI
Alba, E
author_role author
author2 Cordoba, GD
Aranda, AG
Alvarez, M
Vicioso, L
Perez, CL
Hernando, C
Bermejo, B
Parreno, AJ
Lluch, A
Ryder, MB
Jones, FS
Fredebohm, J
Holtrup, F
Queipo-Ortuno, MI
Alba, E
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv breast cancer
circulating tumor DNA (ctDNA)
molecular profiling
liquid biopsy
early-stage cancer
topic breast cancer
circulating tumor DNA (ctDNA)
molecular profiling
liquid biopsy
early-stage cancer
description Circulating tumor DNA (ctDNA) has emerged as a non-invasive "liquid biopsy" for early breast cancer diagnosis. We evaluated the suitability of ctDNA analysis in the diagnosis of early breast cancer after mammography findings, comparing PIK3CA and TP53 mutations between tumor biopsies and pre-biopsy circulating DNA. Matched plasma and frozen fresh tissue biopsies from patients with Breast Imaging-Reporting and Data System (BIRADS) 4c/5 mammography findings and subsequent diagnosis of primary breast cancer were analyzed using NGS TruSeq Custom Amplicon Low Input Panel (Illumina) and plasma SafeSEQ (Sysmex Inostics). The same plasma and tumor mutations were observed in eight of 29 patients (27.6%) with four in TP53 and five in PIK3CA mutations. Sequencing analysis also revealed four additional ctDNA mutations (three in TP53 and one in PIK3CA) previously not identified in three patients tissue biopsy. One of these patients had mutations in both genes. Age, tumor grade and size, immunohistochemical (IHC) subtype, BIRADS category, and lymph node positivity were significantly associated with the detectability of these blood tumor-derived mutations. In conclusion, ctDNA analysis could be used in early breast cancer diagnosis, providing critical clinical information to improve patient diagnosis.
publishDate 2019
dc.date.none.fl_str_mv 2019
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://incliva.portalinvestigacion.com/publicaciones/3911
url https://incliva.portalinvestigacion.com/publicaciones/3911
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv Journal of Clinical Medicine
ISSN: 20770383
reponame:r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
instname:INCLIVA
instname_str INCLIVA
reponame_str r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
collection r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,811543

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