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Chromothripsis—Explosion in Genetic Science

Chromothripsis has been defined as complex patterns of alternating genes copy number changes (normal, gain or loss) along the length of a chromosome or chromosome segment (International System for Human Cytogenomic Nomenclature 2020). The phenomenon of chromothripsis was discovered in 2011 and chang...

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Autores principales: Shorokhova, Mariia, Nikolsky, Nikolay, Grinchuk, Tatiana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8147837/
https://www.ncbi.nlm.nih.gov/pubmed/34064429
http://dx.doi.org/10.3390/cells10051102
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author Shorokhova, Mariia
Nikolsky, Nikolay
Grinchuk, Tatiana
author_facet Shorokhova, Mariia
Nikolsky, Nikolay
Grinchuk, Tatiana
author_sort Shorokhova, Mariia
collection PubMed
description Chromothripsis has been defined as complex patterns of alternating genes copy number changes (normal, gain or loss) along the length of a chromosome or chromosome segment (International System for Human Cytogenomic Nomenclature 2020). The phenomenon of chromothripsis was discovered in 2011 and changed the concept of genome variability, mechanisms of oncogenic transformation, and hereditary diseases. This review describes the phenomenon of chromothripsis, its prevalence in genomes, the mechanisms underlying this phenomenon, and methods of its detection. Due to the fact that most often the phenomenon of chromothripsis occurs in cancer cells, in this review, we will separately discuss the issue of the contribution of chromothripsis to the process of oncogenesis.
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spelling pubmed-81478372021-05-26 Chromothripsis—Explosion in Genetic Science Shorokhova, Mariia Nikolsky, Nikolay Grinchuk, Tatiana Cells Review Chromothripsis has been defined as complex patterns of alternating genes copy number changes (normal, gain or loss) along the length of a chromosome or chromosome segment (International System for Human Cytogenomic Nomenclature 2020). The phenomenon of chromothripsis was discovered in 2011 and changed the concept of genome variability, mechanisms of oncogenic transformation, and hereditary diseases. This review describes the phenomenon of chromothripsis, its prevalence in genomes, the mechanisms underlying this phenomenon, and methods of its detection. Due to the fact that most often the phenomenon of chromothripsis occurs in cancer cells, in this review, we will separately discuss the issue of the contribution of chromothripsis to the process of oncogenesis. MDPI 2021-05-04 /pmc/articles/PMC8147837/ /pubmed/34064429 http://dx.doi.org/10.3390/cells10051102 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Shorokhova, Mariia
Nikolsky, Nikolay
Grinchuk, Tatiana
Chromothripsis—Explosion in Genetic Science
title Chromothripsis—Explosion in Genetic Science
title_full Chromothripsis—Explosion in Genetic Science
title_fullStr Chromothripsis—Explosion in Genetic Science
title_full_unstemmed Chromothripsis—Explosion in Genetic Science
title_short Chromothripsis—Explosion in Genetic Science
title_sort chromothripsis—explosion in genetic science
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8147837/
https://www.ncbi.nlm.nih.gov/pubmed/34064429
http://dx.doi.org/10.3390/cells10051102
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