Next-Generation Sequencing in Breast Cancer Management

Detalhes bibliográficos
Autor(a) principal: Batista, Marta Vaz
Data de Publicação: 2021
Outros Autores: Alpuim Costa, Diogo, Borralho, Paula, Braga, Sofia
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10362/147440
Resumo: Publisher Copyright: © 2021 The Author(s). Published by S. Karger AG, Basel. This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC).
id RCAP_0a6f2837e8cda53537a378f9e89442e5
oai_identifier_str oai:run.unl.pt:10362/147440
network_acronym_str RCAP
network_name_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository_id_str 7160
spelling Next-Generation Sequencing in Breast Cancer ManagementA Case Report of Genomic Tumour Evolution over TimeBreast cancer in youngCase reportMetastatic breast cancerNext-generation sequencingOncologySDG 3 - Good Health and Well-beingPublisher Copyright: © 2021 The Author(s). Published by S. Karger AG, Basel. This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC).The clinicopathological breast cancer subtypes are used in clinical practice to better anticipate biological behaviour and guide systemic treatment strategy. In the adjuvant setting, genomic assay recurrence scores became widely available for luminal-like disease. Recently, next-generation sequencing (NGS) platforms have been used, essentially, in more advanced disease setting, in situations refractory to conventional treatment, or even in rare cancers for which there are no established treatment guidelines. Moreover, subpopulations of cancer cells with unique genomes within the same patient may exist across different regions of a tumour or evolve over time, which is called intratumoural heterogeneity. We herein report a case of a 38-year-old woman with breast cancer whose primary and metastatic disease exhibited discordant expression of hormone receptors, with the former being positive and the latter negative. Furthermore, the NGS analysis revealed slight and dynamic changes of mutational profiles between different metastatic lesions, potentially impacting breast cancer management and prognosis. These alterations may reflect tissular and temporal changes in tumour subclones and may also be due to the selective pressure caused by antineoplastic treatment. The use of genomic analyses in order to improve cancer treatment has been studied prospectively with encouraging results. The widespread use of NGS tests in clinical practice also creates new challenges. The most relevant may be to know which genomic alterations detected should be valued and how they should be targeted.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNBatista, Marta VazAlpuim Costa, DiogoBorralho, PaulaBraga, Sofia2023-01-12T22:16:55Z2021-08-162021-08-16T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article8application/pdfhttp://hdl.handle.net/10362/147440eng1662-6575PURE: 33775295https://doi.org/10.1159/000517441info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-11T05:28:33Zoai:run.unl.pt:10362/147440Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:52:55.897109Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Next-Generation Sequencing in Breast Cancer Management
A Case Report of Genomic Tumour Evolution over Time
title Next-Generation Sequencing in Breast Cancer Management
spellingShingle Next-Generation Sequencing in Breast Cancer Management
Batista, Marta Vaz
Breast cancer in young
Case report
Metastatic breast cancer
Next-generation sequencing
Oncology
SDG 3 - Good Health and Well-being
title_short Next-Generation Sequencing in Breast Cancer Management
title_full Next-Generation Sequencing in Breast Cancer Management
title_fullStr Next-Generation Sequencing in Breast Cancer Management
title_full_unstemmed Next-Generation Sequencing in Breast Cancer Management
title_sort Next-Generation Sequencing in Breast Cancer Management
author Batista, Marta Vaz
author_facet Batista, Marta Vaz
Alpuim Costa, Diogo
Borralho, Paula
Braga, Sofia
author_role author
author2 Alpuim Costa, Diogo
Borralho, Paula
Braga, Sofia
author2_role author
author
author
dc.contributor.none.fl_str_mv NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
RUN
dc.contributor.author.fl_str_mv Batista, Marta Vaz
Alpuim Costa, Diogo
Borralho, Paula
Braga, Sofia
dc.subject.por.fl_str_mv Breast cancer in young
Case report
Metastatic breast cancer
Next-generation sequencing
Oncology
SDG 3 - Good Health and Well-being
topic Breast cancer in young
Case report
Metastatic breast cancer
Next-generation sequencing
Oncology
SDG 3 - Good Health and Well-being
description Publisher Copyright: © 2021 The Author(s). Published by S. Karger AG, Basel. This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC).
publishDate 2021
dc.date.none.fl_str_mv 2021-08-16
2021-08-16T00:00:00Z
2023-01-12T22:16:55Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10362/147440
url http://hdl.handle.net/10362/147440
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 1662-6575
PURE: 33775295
https://doi.org/10.1159/000517441
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 8
application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
_version_ 1799138120793325568

Registros relacionados