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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| Format: | Article |
| Language: | English |
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MDPI AG
2022-10-01
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| Series: | Cells |
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| Online Access: | https://www.mdpi.com/2073-4409/11/20/3239 |
| _version_ | 1827651027978944512 |
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| author | Thomas Liehr |
| author_facet | Thomas Liehr |
| author_sort | Thomas Liehr |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-09T20:29:05Z |
| format | Article |
| id | doaj.art-5ded03dce3e549c5b041b16228900e84 |
| institution | Directory Open Access Journal |
| issn | 2073-4409 |
| language | English |
| last_indexed | 2024-03-09T20:29:05Z |
| publishDate | 2022-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cells |
| spelling | doaj.art-5ded03dce3e549c5b041b16228900e842023-11-23T23:27:49ZengMDPI AGCells2073-44092022-10-011120323910.3390/cells11203239Chromosomal Heteromorphisms and Cancer Susceptibility RevisitedThomas Liehr0Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, 07747 Jena, GermanyChromosomal 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.https://www.mdpi.com/2073-4409/11/20/3239heteromorphismcopy number variationbanding cytogeneticsmolecular cytogeneticscancertumor |
| spellingShingle | Thomas Liehr Chromosomal Heteromorphisms and Cancer Susceptibility Revisited Cells heteromorphism copy number variation banding cytogenetics molecular cytogenetics cancer tumor |
| 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 | heteromorphism copy number variation banding cytogenetics molecular cytogenetics cancer tumor |
| url | https://www.mdpi.com/2073-4409/11/20/3239 |
| work_keys_str_mv | AT thomasliehr chromosomalheteromorphismsandcancersusceptibilityrevisited |