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New, fast and cheap prediction tests for BRCA1 gene mutations identification in clinical samples

Despite significant progress in cancer therapy, cancer is still the second cause of mortality in the world. The necessity to make quick therapeutic decisions forces the development of procedures allowing to obtain a reliable result in a quick and unambiguous manner. Currently, detecting predictive m...

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Autores principales: Gajda-Walczak, Aleksandra, Potęga, Agnieszka, Kowalczyk, Agata, Sek, Slawomir, Zięba, Sebastian, Kowalik, Artur, Kudelski, Andrzej, Nowicka, Anna M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10163215/
https://www.ncbi.nlm.nih.gov/pubmed/37147448
http://dx.doi.org/10.1038/s41598-023-34588-9
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author Gajda-Walczak, Aleksandra
Potęga, Agnieszka
Kowalczyk, Agata
Sek, Slawomir
Zięba, Sebastian
Kowalik, Artur
Kudelski, Andrzej
Nowicka, Anna M.
author_facet Gajda-Walczak, Aleksandra
Potęga, Agnieszka
Kowalczyk, Agata
Sek, Slawomir
Zięba, Sebastian
Kowalik, Artur
Kudelski, Andrzej
Nowicka, Anna M.
author_sort Gajda-Walczak, Aleksandra
collection PubMed
description Despite significant progress in cancer therapy, cancer is still the second cause of mortality in the world. The necessity to make quick therapeutic decisions forces the development of procedures allowing to obtain a reliable result in a quick and unambiguous manner. Currently, detecting predictive mutations, including BRCA1, is the basis for effectively treating advanced breast cancer. Here, we present new insight on gene mutation detection. We propose a cheap BRCA1 mutation detection tests based on the surface plasmon resonance (SPR) or quartz crystal microbalance with energy dissipation (QCM-D) response changes recorded during a hybridization process of an oligonucleotide molecular probe with DNA fragments, with and without the BRCA1 mutation. The changes in the morphology of the formed DNA layer caused by the presence of the mutation were confirmed by atomic force microscopy. The unique property of the developed SPR and QCM tests is really short time of analysis: ca. 6 min for SPR and ca. 25 min for QCM. The proposed tests have been verified on 22 different DNA extracted from blood leukocytes collected from cancer patients: 17 samples from patients with various BRCA1 gene mutation variants including deletion, insertion and missense single-nucleotide and 5 samples from patients without any BRCA1 mutation. Our test is a response to the need of medical diagnostics for a quick, unambiguous test to identify mutations of the BRCA1 gene, including missense single-nucleotide (SNPs).
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spelling pubmed-101632152023-05-07 New, fast and cheap prediction tests for BRCA1 gene mutations identification in clinical samples Gajda-Walczak, Aleksandra Potęga, Agnieszka Kowalczyk, Agata Sek, Slawomir Zięba, Sebastian Kowalik, Artur Kudelski, Andrzej Nowicka, Anna M. Sci Rep Article Despite significant progress in cancer therapy, cancer is still the second cause of mortality in the world. The necessity to make quick therapeutic decisions forces the development of procedures allowing to obtain a reliable result in a quick and unambiguous manner. Currently, detecting predictive mutations, including BRCA1, is the basis for effectively treating advanced breast cancer. Here, we present new insight on gene mutation detection. We propose a cheap BRCA1 mutation detection tests based on the surface plasmon resonance (SPR) or quartz crystal microbalance with energy dissipation (QCM-D) response changes recorded during a hybridization process of an oligonucleotide molecular probe with DNA fragments, with and without the BRCA1 mutation. The changes in the morphology of the formed DNA layer caused by the presence of the mutation were confirmed by atomic force microscopy. The unique property of the developed SPR and QCM tests is really short time of analysis: ca. 6 min for SPR and ca. 25 min for QCM. The proposed tests have been verified on 22 different DNA extracted from blood leukocytes collected from cancer patients: 17 samples from patients with various BRCA1 gene mutation variants including deletion, insertion and missense single-nucleotide and 5 samples from patients without any BRCA1 mutation. Our test is a response to the need of medical diagnostics for a quick, unambiguous test to identify mutations of the BRCA1 gene, including missense single-nucleotide (SNPs). Nature Publishing Group UK 2023-05-05 /pmc/articles/PMC10163215/ /pubmed/37147448 http://dx.doi.org/10.1038/s41598-023-34588-9 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Gajda-Walczak, Aleksandra
Potęga, Agnieszka
Kowalczyk, Agata
Sek, Slawomir
Zięba, Sebastian
Kowalik, Artur
Kudelski, Andrzej
Nowicka, Anna M.
New, fast and cheap prediction tests for BRCA1 gene mutations identification in clinical samples
title New, fast and cheap prediction tests for BRCA1 gene mutations identification in clinical samples
title_full New, fast and cheap prediction tests for BRCA1 gene mutations identification in clinical samples
title_fullStr New, fast and cheap prediction tests for BRCA1 gene mutations identification in clinical samples
title_full_unstemmed New, fast and cheap prediction tests for BRCA1 gene mutations identification in clinical samples
title_short New, fast and cheap prediction tests for BRCA1 gene mutations identification in clinical samples
title_sort new, fast and cheap prediction tests for brca1 gene mutations identification in clinical samples
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10163215/
https://www.ncbi.nlm.nih.gov/pubmed/37147448
http://dx.doi.org/10.1038/s41598-023-34588-9
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