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Precision medicine in the real-world setting. Clinical activity of talazoparib in a woman with hormone receptor-positive HER2-negative metastatic breast cancer with pathogenic mutation in somatic BRCA2

BACKGROUND: Next-generation sequencing (NGS) has proven to be a key implementation to understanding biological pathways involved in cancer. In daily practice, the identification of somatic and germline mutations has allowed physicians to gather relevant information to make therapeutic decisions and...

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Autores principales: Narváez, Dana, Waisberg, Federico, Soulé, Tomás, Angel, Martín, Bruno, Luisina, Girotti, Maria Romina, Pupareli, Carmen, Chacón, Matías, Petracci, Fernando E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cancer Intelligence 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9666283/
https://www.ncbi.nlm.nih.gov/pubmed/36405946
http://dx.doi.org/10.3332/ecancer.2022.1448
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author Narváez, Dana
Waisberg, Federico
Soulé, Tomás
Angel, Martín
Bruno, Luisina
Girotti, Maria Romina
Pupareli, Carmen
Chacón, Matías
Petracci, Fernando E
author_facet Narváez, Dana
Waisberg, Federico
Soulé, Tomás
Angel, Martín
Bruno, Luisina
Girotti, Maria Romina
Pupareli, Carmen
Chacón, Matías
Petracci, Fernando E
author_sort Narváez, Dana
collection PubMed
description BACKGROUND: Next-generation sequencing (NGS) has proven to be a key implementation to understanding biological pathways involved in cancer. In daily practice, the identification of somatic and germline mutations has allowed physicians to gather relevant information to make therapeutic decisions and benefit patients. Importantly, somatic mutations provide targeted opportunities for treatment and reveal resistance mechanisms to understand patients’ tumour evolution. Scanty data in clinical trials and in a real-world setting is available regarding the utility of poly(ADP-ribose) polymerase inhibitors in pathogenic or likely-pathogenic somatic breast cancer gene 1/2 (BRCA1/2) mutations and/or germline or somatic Homologous Recombination-Related Gene mutations in advanced breast cancer (ABC). CASE REPORT: Here we report a real-life case of a 47-year-old postmenopausal woman with hormone receptor-positive (HR-positive) Epidermal growth factor receptor 2 (HER2)-negative metastatic BC that had poor response to classic therapeutic strategies for HR+/HER2− ABC. At this point, the possibility of using NGS to guide the treatment was decided in a Molecular Tumour Board (MTB), and the patient had a major response to talazoparib targeting a non-germline BRCA2 mutation. CONCLUSION: Undoubtedly, more information regarding the cost effectiveness of NGS is needed to develop adequate reimbursement policies for this technology. It should be highlighted that the generalisation of MTBs and the implementation of molecular screening programmes are greatly needed in our region to gain more knowledge of somatic mutations implicated in the Hispanic and Latin-American population with BC diagnosis. Recently presented results of randomised studies may support the evaluation of somatic mutations with NGS to find targeted therapies for ABC patients.
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spelling pubmed-96662832022-11-18 Precision medicine in the real-world setting. Clinical activity of talazoparib in a woman with hormone receptor-positive HER2-negative metastatic breast cancer with pathogenic mutation in somatic BRCA2 Narváez, Dana Waisberg, Federico Soulé, Tomás Angel, Martín Bruno, Luisina Girotti, Maria Romina Pupareli, Carmen Chacón, Matías Petracci, Fernando E Ecancermedicalscience Case Report BACKGROUND: Next-generation sequencing (NGS) has proven to be a key implementation to understanding biological pathways involved in cancer. In daily practice, the identification of somatic and germline mutations has allowed physicians to gather relevant information to make therapeutic decisions and benefit patients. Importantly, somatic mutations provide targeted opportunities for treatment and reveal resistance mechanisms to understand patients’ tumour evolution. Scanty data in clinical trials and in a real-world setting is available regarding the utility of poly(ADP-ribose) polymerase inhibitors in pathogenic or likely-pathogenic somatic breast cancer gene 1/2 (BRCA1/2) mutations and/or germline or somatic Homologous Recombination-Related Gene mutations in advanced breast cancer (ABC). CASE REPORT: Here we report a real-life case of a 47-year-old postmenopausal woman with hormone receptor-positive (HR-positive) Epidermal growth factor receptor 2 (HER2)-negative metastatic BC that had poor response to classic therapeutic strategies for HR+/HER2− ABC. At this point, the possibility of using NGS to guide the treatment was decided in a Molecular Tumour Board (MTB), and the patient had a major response to talazoparib targeting a non-germline BRCA2 mutation. CONCLUSION: Undoubtedly, more information regarding the cost effectiveness of NGS is needed to develop adequate reimbursement policies for this technology. It should be highlighted that the generalisation of MTBs and the implementation of molecular screening programmes are greatly needed in our region to gain more knowledge of somatic mutations implicated in the Hispanic and Latin-American population with BC diagnosis. Recently presented results of randomised studies may support the evaluation of somatic mutations with NGS to find targeted therapies for ABC patients. Cancer Intelligence 2022-09-26 /pmc/articles/PMC9666283/ /pubmed/36405946 http://dx.doi.org/10.3332/ecancer.2022.1448 Text en © the authors; licensee ecancermedicalscience. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0 (https://creativecommons.org/licenses/by/4.0/) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Narváez, Dana
Waisberg, Federico
Soulé, Tomás
Angel, Martín
Bruno, Luisina
Girotti, Maria Romina
Pupareli, Carmen
Chacón, Matías
Petracci, Fernando E
Precision medicine in the real-world setting. Clinical activity of talazoparib in a woman with hormone receptor-positive HER2-negative metastatic breast cancer with pathogenic mutation in somatic BRCA2
title Precision medicine in the real-world setting. Clinical activity of talazoparib in a woman with hormone receptor-positive HER2-negative metastatic breast cancer with pathogenic mutation in somatic BRCA2
title_full Precision medicine in the real-world setting. Clinical activity of talazoparib in a woman with hormone receptor-positive HER2-negative metastatic breast cancer with pathogenic mutation in somatic BRCA2
title_fullStr Precision medicine in the real-world setting. Clinical activity of talazoparib in a woman with hormone receptor-positive HER2-negative metastatic breast cancer with pathogenic mutation in somatic BRCA2
title_full_unstemmed Precision medicine in the real-world setting. Clinical activity of talazoparib in a woman with hormone receptor-positive HER2-negative metastatic breast cancer with pathogenic mutation in somatic BRCA2
title_short Precision medicine in the real-world setting. Clinical activity of talazoparib in a woman with hormone receptor-positive HER2-negative metastatic breast cancer with pathogenic mutation in somatic BRCA2
title_sort precision medicine in the real-world setting. clinical activity of talazoparib in a woman with hormone receptor-positive her2-negative metastatic breast cancer with pathogenic mutation in somatic brca2
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9666283/
https://www.ncbi.nlm.nih.gov/pubmed/36405946
http://dx.doi.org/10.3332/ecancer.2022.1448
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