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Chromosomal Heteromorphisms and Cancer Susceptibility Revisited

Chromosomal heteromorphisms (CHs) are a part of genetic variation in man. The past literature largely posited whether CHs could be correlated with the development of malignancies. While this possibility seemed closed by end of the 1990s, recent data have raised the question again on the potential in...

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Autor principal: Liehr, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600968/
https://www.ncbi.nlm.nih.gov/pubmed/36291106
http://dx.doi.org/10.3390/cells11203239
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author Liehr, Thomas
author_facet Liehr, Thomas
author_sort Liehr, Thomas
collection PubMed
description Chromosomal heteromorphisms (CHs) are a part of genetic variation in man. The past literature largely posited whether CHs could be correlated with the development of malignancies. While this possibility seemed closed by end of the 1990s, recent data have raised the question again on the potential influences of repetitive DNA elements, the main components of CHs, in cancer susceptibility. Such new evidence for a potential role of CHs in cancer can be found in the following observations: (i) amplification and/or epigenetic alterations of CHs are routinely reported in tumors; (ii) the expression of CH-derived RNA in embryonal and other cells under stress, including cancer cells; (iii) the expression of parts of CH-DNA as long noncoding RNAs; plus (iv) theories that suggest a possible application of the “two-hit model” for euchromatic copy number variants (CNVs). Herein, these points are discussed in detail, which leads to the conclusion that CHs are by far not given sufficient consideration in routine cytogenetic analysis, e.g., leukemias and lymphomas, and need more attention in future research settings including solid tumors. This heightened focus may only be achieved by approaches other than standard sequencing or chromosomal microarrays, as these techniques are at a minimum impaired in their ability to detect, if not blind to, (highly) repetitive DNA sequences.
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spelling pubmed-96009682022-10-27 Chromosomal Heteromorphisms and Cancer Susceptibility Revisited Liehr, Thomas Cells Review Chromosomal heteromorphisms (CHs) are a part of genetic variation in man. The past literature largely posited whether CHs could be correlated with the development of malignancies. While this possibility seemed closed by end of the 1990s, recent data have raised the question again on the potential influences of repetitive DNA elements, the main components of CHs, in cancer susceptibility. Such new evidence for a potential role of CHs in cancer can be found in the following observations: (i) amplification and/or epigenetic alterations of CHs are routinely reported in tumors; (ii) the expression of CH-derived RNA in embryonal and other cells under stress, including cancer cells; (iii) the expression of parts of CH-DNA as long noncoding RNAs; plus (iv) theories that suggest a possible application of the “two-hit model” for euchromatic copy number variants (CNVs). Herein, these points are discussed in detail, which leads to the conclusion that CHs are by far not given sufficient consideration in routine cytogenetic analysis, e.g., leukemias and lymphomas, and need more attention in future research settings including solid tumors. This heightened focus may only be achieved by approaches other than standard sequencing or chromosomal microarrays, as these techniques are at a minimum impaired in their ability to detect, if not blind to, (highly) repetitive DNA sequences. MDPI 2022-10-15 /pmc/articles/PMC9600968/ /pubmed/36291106 http://dx.doi.org/10.3390/cells11203239 Text en © 2022 by the author. 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
Liehr, Thomas
Chromosomal Heteromorphisms and Cancer Susceptibility Revisited
title Chromosomal Heteromorphisms and Cancer Susceptibility Revisited
title_full Chromosomal Heteromorphisms and Cancer Susceptibility Revisited
title_fullStr Chromosomal Heteromorphisms and Cancer Susceptibility Revisited
title_full_unstemmed Chromosomal Heteromorphisms and Cancer Susceptibility Revisited
title_short Chromosomal Heteromorphisms and Cancer Susceptibility Revisited
title_sort chromosomal heteromorphisms and cancer susceptibility revisited
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600968/
https://www.ncbi.nlm.nih.gov/pubmed/36291106
http://dx.doi.org/10.3390/cells11203239
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