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Academic literature on the topic 'Chromosomal aberrations'

Author: Grafiati

Published: 4 June 2021

Last updated: 27 April 2022

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Journal articles on the topic "Chromosomal aberrations"

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Ito, S., H. Sumitomo, and Y. Matsuoka. "Detection of Activity-Induced Chromosomal Aberrations Using Image Analysis." Water Science and Technology 25, no. 11 (June 1, 1992): 227–34. http://dx.doi.org/10.2166/wst.1992.0296.

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Image analysis was applied to chromosomal aberration tests carried out on Chinese hamster lung cell (CHL). First, chromosomes on pictures which had been judged to be normals or aberrations by experts were analyzed by the authors' image analyzer. 802 chromosomes including 83 aberrations were distinguished by an algorithm which was developed with shape parameters. Consequently, 91.1% of exchanged-type aberrations, 47.4% of broken-type aberrations, and 97.9% of normals were correctly distinguished. And it was concluded that this algorithm could be put into practical detections of exchanged-type aberrations. Subsequently, activity-induced chromosomal aberrations of chlorinated lake water were investigated with the developed algorithm. Activity-induced chromosomal aberrations of chlorinated water depended on the chlorination pH, revealing a pattern of decreasing activity with increasing pH. It was a converse pattern for that of chloroform production.

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Heng, Henry H. Q., Guo Liu, Steven Bremer, Karen J. Ye, Joshua Stevens, and Christine J. Ye. "Clonal and non-clonal chromosome aberrations and genome variation and aberration." Genome 49, no. 3 (March 1, 2006): 195–204. http://dx.doi.org/10.1139/g06-023.

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The theoretical view that genome aberrations rather than gene mutations cause a majority of cancers has gained increasing support from recent experimental data. Genetic aberration at the chromosome level is a key aspect of genome aberration and the systematic definition of chromosomal aberrations with their impact on genome variation and cancer genome evolution is of great importance. However, traditionally, efforts have focused on recurrent clonal chromosome aberrations (CCAs). The significance of stochastic non-clonal chromosome aberrations (NCCAs) is discussed in this paper with emphasis on the simple types of NCCAs that have until recently been considered "non-significant background". Comparison of various subtypes of transitional and late-stage CCAs with simple and complex types of NCCAs has uncovered a dynamic relationship among NCCAs, CCAs, overall genomic instability, and karyotypic evolution, as well as the stochastic nature of cancer evolution. Here, we review concepts and methodologies to measure NCCAs and discuss the possible causative mechanism and consequences of NCCAs. This study raises challenging questions regarding the concept of cancer evolution driven by stochastic chromosomal aberration mediated genome irregularities that could have repercussions reaching far beyond cancer and organismal genomes.Key words: clonal chromosome aberration (CCA), transitional CCA, non-clonal chromosome aberration (NCCA), karyotype, cancer evolution, genome aberration and variation.

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Kozoviy, Ruslan. "Frequency and Spectrum of Chromosomal Aberrations, Acrocentric Chromosome Associations Among Long Livers with Arterial Hypertension and Osteoarthritis Residing in the Carpathian Region." Galician Medical Journal 24, no. 1 (March 27, 2017): 2017111. http://dx.doi.org/10.21802/gmj.2017.1.11.

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The frequency and spectrum of chromosomal aberrations, acrocentric chromosome associations among 264 long livers with arterial hypertension and osteoarthritis residing in the Carpathian region were analyzed. The obtained results were compared between patients with arterial hypertension and osteoarthritis, patients with arterial hypertension only, patients with osteoarthritis only and healthy individuals. The indices of the average frequency of chromosomal aberrations in all long livers was as follows: (2.82±0.27) in long livers with arterial hypertension and osteoarthritis and (2.17±0.47) in healthy individuals. In long livers with arterial hypertension and those with osteoarthritis, the frequency of chromosomal aberrations was 1.38 times higher compared to the control group (healthy long livers). The frequency of chromosomal abnormalities in long livers with arterial hypertension and those with osteoarthritis was (2.93±0.09) and (2.64±0.37), respectively.At the same time, there was observed the individual variability in chromosomal aberration frequency from 0.2 to 5%. In the spectrum of chromosomal aberrations, unstable chromosomal aberrations (dicentrics, rings, fragments) predominated in all long livers. When studying the index of acrocentric chromosome associations there was revealed that the difference in the indices between studied groups was identical to that when studying the frequency of chromosomal aberrations. In long livers with arterial hypertension and osteoarthritis, the index of the average number of acrocentric chromosome associations per cell was 1.07 times higher than that in long livers with arterial hypertension only, 1.32 times higher compared to that in long livers with osteoarthritis only and 1.75 times higher compared to healthy individuals (p<0.05).

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Li, Jianyong, Bing Xiao, Lijuan Chen, Yu Zhu, Wei Xu, and Hairong Qiu. "Whole Chromosome Painting and Multiplex Fluorescence In Situ Hybridization in Detecting Complex Chromosomal Aberrations in Myelodysplastic Syndromes." Blood 108, no. 11 (November 16, 2006): 4853. http://dx.doi.org/10.1182/blood.v108.11.4853.4853.

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Abstract Objective To explore the value of the technique of whole chromosome painting (WCP) and multiplex fluorescence in situ hybridization (M-FISH) in the detection of complex chromosomal aberrations (CCAs) of myelodysplastic syndromes (MDS). Methods M-FISH was used in seven MDS patients with CCAs detected by R-banding technique to refine CCAs, and to identify cryptic translocations and characterization of marker chromosomes. Dual-color WCP procedures were further performed in 7 cases to confirm some rearrangements detected by M-FISH. Results In all cases, M-FISH confirmed all results of R-banding.The composition and origin of 6 kinds of marker chromosomes, 9 kinds of chromosomes with additional material undetermined and 5 kinds of derivative chromosomes undefined by CC were defined after M-FISH analysis; 4 kinds of cryptic translocations overlooked by CC were found on derivative chromosomes and previously normal appearing chromosomes. In addition, M-FISH revealed some nonrandom aberrations: aberrations involving chromosome 17 (5/7) and -5/5q- (4/7) were the two most frequent aberrations. Fluorescence flaring is a main factor leading to misinterpretations. Some misclassified and missed chromosomal aberrations by M-FISH were corrected by WCP. Conclusions M-FISH is a powerful molecular cytogenetic tool in clarification of CCAs. Complementary WCP helped us identify misclassified and missed chromosomal aberrations by M-FISH. CC in combination with molecular cytogenetic techniques M-FISH and WCP can unravel complex chromosomal aberrations more precisely.

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Eidelman, Yuri, Ilya Salnikov, Svetlana Slanina, and Sergey Andreev. "Chromosome Folding Promotes Intrachromosomal Aberrations under Radiation- and Nuclease-Induced DNA Breakage." International Journal of Molecular Sciences 22, no. 22 (November 10, 2021): 12186. http://dx.doi.org/10.3390/ijms222212186.

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The long-standing question in radiation and cancer biology is how principles of chromosome organization impact the formation of chromosomal aberrations (CAs). To address this issue, we developed a physical modeling approach and analyzed high-throughput genomic data from chromosome conformation capture (Hi-C) and translocation sequencing (HTGTS) methods. Combining modeling of chromosome structure and of chromosomal aberrations induced by ionizing radiation (IR) and nuclease we made predictions which quantitatively correlated with key experimental findings in mouse chromosomes: chromosome contact maps, high frequency of cis-translocation breakpoints far outside of the site of nuclease-induced DNA double-strand breaks (DSBs), the distinct shape of breakpoint distribution in chromosomes with different 3D organizations. These correlations support the heteropolymer globule principle of chromosome organization in G1-arrested pro-B mouse cells. The joint analysis of Hi-C, HTGTS and physical modeling data offers mechanistic insight into how chromosome structure heterogeneity, globular folding and lesion dynamics drive IR-recurrent CAs. The results provide the biophysical and computational basis for the analysis of chromosome aberration landscape under IR and nuclease-induced DSBs.

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Zemanova, Zuzana, Kyra Michalova, Libuse Babicka, Lenka Pavlistova, Marie Jarosova, Milena Holzerova, Alexandra Oltova, et al. "Clinical Relevance of Complex Chromosomal Aberrations in Bone Marrow Cells of 107 Children with ETV6/RUNX1 Positive Acute Lymphoblastic Leukemia (ALL)." Blood 108, no. 11 (November 1, 2006): 2278. http://dx.doi.org/10.1182/blood.v108.11.2278.2278.

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Abstract Cryptic translocation t(12;21)(p13;q22) which give origin to the ETV6/RUNX1 hybrid gene can be found by I-FISH in approximately 20–25% of children with B precursor ALL as the most frequent specific aberration. This translocation is generally associated with good outcome. Despite of its favorable prognostic value, late relapses may occur within this group of patients. One of the reasons could be the high instability of the genome of leukemic cells, which is manifested at the chromosomal level by additional aberrations and/or complex chromosomal rearrangements. The aim of the study was to evaluate the significance of the additional chromosomal aberrations for prognosis of children with ETV6/RUNX1 positive ALL. For the assessment of ETV6/RUNX1 fusion gene RT-PCR and/or double target interphase FISH with locus-specific probe (Abbott-Vysis, Des Plaines, Illinois, USA) were used (200 interphase nuclei analyzed, cut-off level 2.5% tested on controls, standard deviation ≤0.5%). Karyotypes were analyzed by conventional and molecular cytogenetic methods. Structural and/or complex chromosomal aberration were verified by FISH with whole chromosome painting probes (Cambio, Cambridge, UK) and/or by mFISH with the "24XCyte" probe kit (MetaSystems GmbH, Altlussheim, Germany). We performed prospective and retrospective study of 107 children with ALL and ETV6/RUNX1 fusion gene detected by RT-PCR and/or I-FISH. Patients were diagnosed between 1995 and 2006, age ranged between 15 months and 16.9 years (median 4.2 years). Relapse appeared in 19 children (17.8%), four of them died. In 64 children (59.8%) we found besides t(12;21)(p13;q22) additional chromosomal aberrations, the most frequently trisomy or tetrasomy of chromosome 21 (20 cases), deletion of non-translocated ETV6 allele (24 cases), deletion of 6q (7 cases) and/or rearrangements of the long arm of chromosome X (6 cases). Complex karyotypes were identified in 38 children (35.5%). In twelve of them variant translocations of chromosomes 12 and 21 with other partners were observed. Event-free survival (EFS) was significantly shorter in patients with additional structural and/or complex aberrations in ETV6/RUNX1 positive cells (p=0.01). In our cohort complex karyotypes indicated poor prognosis. Finding of complex chromosomal aberrations in leukemic cells is accompanied by higher risk of relapse even in those cases where the prognostically positive aberration is primarily present.

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Salaskar, Vidya, Gauri Pradhan, Anurita Pais, Chaitali Kadam, and Sunmeet Matkar. "Evaluation of constitutional chromosomal abnormalities: experience of a tertiary healthcare diagnostic laboratory in India." International Journal of Research in Medical Sciences 5, no. 12 (November 25, 2017): 5293. http://dx.doi.org/10.18203/2320-6012.ijrms20175443.

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Background: Structural and numerical chromosomal aberrations contribute significantly to genetic disease. Unbalanced aberrations are associated with congenital anomalies, mental retardation and underdevelopment of secondary sexual characters while balanced structural chromosomal abnormalities contribute to an increased risk for infertility, bad obstetric history and chromosomally unbalanced offspring with multiple congenital abnormalities and intellectual impairment. Aim of the current study was to determine the prevalence and characterization of cytogenetic aberrations in 8445 cases referred during the years 2010-2013 for cytogenetic evaluation.Methods: Metaphase chromosomes from 72-hour blood lymphocyte culture were prepared for Giemsa-Trypsin-G banding. Characterization of marker chromosomes were done by M-FISH and subtle chromosomal aberrations were evaluated by targeted FISH using centromeric probes for chromosome 13,18,21, X and Y and loci specific probes for microdeletion syndromes and SRY gene.Results: Variant forms of trisomies i.e. partial trisomies were seen in cases with Edwards and Patau syndrome. Sex chromosomal abnormalities associated with puberty and reproductive problems were seen in cases with Turner syndrome, Klinefelter syndrome and also in females with primary amenorrhea. Autosomal reciprocal translocations were the most common chromosomal changes in couples with recurrent abortions. In order to increase the diagnostic yield and evaluate variations, FISH and m-FISH were additional tests done to characterize the genetic variations.Conclusions: Along with Karyotyping SRY, XIST, SHOX9 gene analysis and Y microdeletion analysis are also critial tests to assess the possibilities for normal development or assisted reproduction in individuals with sex chromosomal abnormalities.

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Xharra, S., E. Behluli, A. Moder, H. Nefic, R. Hadziselimovic, and G. Temaj. "Association of X Chromosome Aberrations with Male Infertility." Acta Medica Bulgarica 48, no. 4 (November 1, 2021): 69–72. http://dx.doi.org/10.2478/amb-2021-0051.

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Abstract Male infertility is caused by spermatogenetic failure, clinically noted as oligoor azoospermia. Approximately 20% of infertile patients carry a genetic defect. The most frequent genetic defect leading to azoospermia (or severe oligozoospermia) is Klinefelter syndrome (47, XXY), which is numerical chromosomal abnormality and Y- structural chromosome aberration. The human X chromosome is the most stable of all human chromosomes. The X chromosome is loaded with regions of acquired, rapidly evolving genes. The X chromosome may actually play an essential role in male infertility and sperm production. Here we will describe X chromosome aberrations, which are associated with male infertility.

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Schoch, Claudia, Susanne Schnittger, Wolfgang Kern, Torsten Haferlach, and Frank Dicker. "Immunostimulatory CpG-Oligonucleotide Activated Metaphase Cytogenetics Is Feasible in Routine Diagnostics of Chronic Lymphocytic Leukaemia and Reveals More Abnormalities Than Interphase FISH." Blood 106, no. 11 (November 16, 2005): 3252. http://dx.doi.org/10.1182/blood.v106.11.3252.3252.

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Abstract Genetic characterization of chronic lymphocytic leukemia (CLL) cells by fluorescence in situ hybridization (FISH) has identified genetic aberrations in 80% of CLL patients. In contrast, conventional metaphase cytogenetics detected chromosomal aberrations in only 40–50% of all cases. Immunostimulatory CpG-oligonucleotides (CpG-ODN) in combination with interleukin 2 (IL-2) have recently been reported to induce proliferation in CLL B cells. Therefore, we evaluated this stimulus for its efficacy in metaphase generation for the detection of chromosomal aberrations by cytogenetic banding techniques. In addition these results were compared with data obtained by interphase FISH. For metaphase induction 107 cells were cultured in growth medium with the CpG-ODN DSP30 and IL-2. After 2 days colchicine was added for another 24h before preparation. Of the 133 samples that were included in this study, all cases could be successfully analyzed by interphase FISH with a rate of 79% aberrations like deletions of chromosomes 13q (57%, in 38% as sole abnormality), 11q (17%), trisomy 12 (13%), 6q (7%), 17p (6%) and translocations involving 14q32 (4%). By FISH 55% of all samples showed a single aberration, 22% two aberrations and 2% 3 aberrations. In comparison, 126 cases (95%) could be successfully analyzed by cytogenetic banding techniques. 102 (81%) of the 126 samples showed chromosomal aberrations, which involved all different chromosomes. 9 cases with a normal karyotype in conventional cytogenetics revealed genetic aberrations by FISH. In all but 1 of these cases the aberrant clone represented < 30% of the cell population. In addition to the aberrations that were detected by the FISH probes, a substantial amount of other aberrations was revealed by chromosome banding analysis. Interestingly, 10 cases of a total of 27 cases without abnormalities detected by FISH displayed aberrations in chromosome analysis indicating that the true amount of CLL patients with aberrations exceeds 79%. Overall, 47 samples (37%) showed chromosomal aberrations in chromosome banding analysis in addition to FISH analysis. Compared to FISH analysis, which detected 2 cases with 3 aberrations, metaphase cytogenetics detected 22 cases with 3 or more unbalanced aberrations, which can be considered as a complex aberrant karyotype. Loss of p53 referred to as del(17p13) in FISH has attracted considerable attention, because of the poor clinical outcome of affected patients. In our study, all del(17p13) cases (n=7) displayed either a loss of the short arm of chromosome 17 (n=6) or a complete loss of chromosome 17 (n=1) indicating that chromosomal regions in addition to the p53 locus might be relevant for this phenotype. Furthermore, numerous recurrent aberrations have been identified in this study beyond the aberrations that are detected by FISH. Of note are gains of 2p and 3q, losses in 11q13 and gains in 11q23–25, gains in 13q31–34, gains of 17q21–25 and cases with trisomy 18 and 19, which occurred in parallel to trisomy 12. The results of the present study show that immunostimulatory CpG-oligonucleotides plus interleukin 2 are a simple and cheap stimulus for efficient metaphase induction in CLL. The rate of aberrations detected by conventional banding techniques was even slighty increased compared to FISH analysis, however, the complexity of cytogenetic aberrations is underestimated by FISH analysis in a large portion of CLL cases (37%).

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Yahaya, Muhammad Sanusi, Mohd Shahrom Salisi, Nur Mahiza Md Isa, Goh Yong Meng, and Abdwahid Haron. "Prevalence of chromosome anomalies in a deer farm with fertility decline in Malaysia." Future Science OA 6, no. 6 (July 1, 2020): FSO580. http://dx.doi.org/10.2144/fsoa-2020-0037.

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Background: A number of factors are known to reduce fertility rate in animals and one of the important categories of such factors is chromosome anomalies. They can occur with or without causing phenotypic abnormalities on animals; in some cases, they may directly affect meiosis, gametogenesis and the viability of conceptus. In many instances, balanced structural rearrangements can be transmitted to offspring, affecting fertility in subsequent generations. Aim: This work investigated the occurrence of chromosome aberrations in Rusa timorensis, Rusa unicolor and Axis axis raised in a nucleus deer farm in Malaysia with a history of declining fertility of unknown origin. Materials & methods: Blood samples were collected from 60 animals through venipuncture, cultured for 72 h and arrested at metaphase. SmartType® and Ideokar® software were used to karyotype the chromosomes. Results: We found 15 out of the 60 animals screened from both sexes harbor some form of chromosome aberration. Chromosomal aberrations exist at the rate of 25% and may not be unconnected with the observed reduced fertility on the farm. Further investigations should be carried out, especially on the offspring of the studied animals to transmission of these aberrations. The animals that are confirmed to transmit the chromosomal aberrations should be culled to arrest the propagation of their abnormalities.

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Dissertations / Theses on the topic "Chromosomal aberrations"

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Lee, Ann Siew Gek. "Chromosomal aberrations in breast cancer." Thesis, University of Oxford, 1990. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.276849.

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Koen, Liezl. "Chromosomal aberrations in the Xhosa schizophrenia population." Thesis, Stellenbosch : Stellenbosch University, 2008. http://hdl.handle.net/10019.1/1189.

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Thesis (PhD (Psychiatry))--Stellenbosch University, 2008.
BACKGROUND: Schizophrenia is a heterogeneous illness resulting from complex gene-environment interplay. The majority of molecular genetic work done has involved Caucasian populations, with studies in these and Asian populations showing 2-32% of sufferers to have chromosomal aberrations. So far the discovery of a specific susceptibility mechanism or gene still eludes us, but the use of endophenotypes is advocated as a useful tool in this search. No cytogenetic studies of this nature have been reported in any African schizophrenia population. AIM: The aim of the study was to combine genotypic and phenotypic data, collected in a homogenous population in a structured manner, with the hope of characterising an endophenotype that could be used for more accurate identification of individuals with possible chromosomal abnormalities. METHODOLOGY: A structured clinical interview was conducted on 112 Xhosa schizophrenia patients. (Diagnostic Interview for Genetic Studies, including Schedules for the Assessment of Negative and Positive Symptoms.) Blood samples (karyotyping and/or FISH analysis) as well as urine samples (drug screening) were obtained and nine head and facial measurements were performed. Descriptive statistics were compiled with reference to demographic, clinical and morphological variables. Comparisons between mean differences for these variables were made.

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Veltman, Joris André. "Chromosomal aberrations during head and neck carcinogenesis." Maastricht : Maastricht : Universitaire Pers Maastricht ; University Library, Maastricht University [Host], 1999. http://arno.unimaas.nl/show.cgi?fid=6943.

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Nordgren, Ann. "Characterisation of chromosomal aberrations in childhood leukaemia /." Stockholm, 2001. http://diss.kib.ki.se/2001/91-628-4792-9/.

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Koen, Liezl. "Chromosomal aberrations in the Xhosa shizophrenia population /." Link to the online version, 2008. http://hdl.handle.net/10019/1697.

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Cuceu, Corina. "Telomere Dysfunction And Chromosomal Instability In Hodgkin Lymphoma." Thesis, Université Paris-Saclay (ComUE), 2015. http://www.theses.fr/2015SACLS210/document.

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Le lymphome de Hodgkin est caractérisé, d’un point de vue histologique, par la présence de rares cellules tumorales nommées cellules de Reed et Sternberg, au sein d’un infiltrat cellulaire polymorphe, inflammatoire et réactionnel. Cette dernière résulte de la transformation tumorale de cellules lymphocytaires B qui acquièrent des propriétés d’échappement au système immun, de prolifération, de résistance à l’apoptose et une instabilité chromosomique. Néanmoins, la rareté des cellules tumorales, impliquant des problèmes techniques mais aussi de caractérisation des évènements primaires dans l’initiation de cette instabilité chromosomique, a été bien débattue dans la littérature. Mais les mécanismes impliqués dans l’instabilité chromosomique dans le lymphome de Hodgkin demeurent obscurs.La première partie de cette thèse a été consacrée à l’étude des mécanismes impliqués dans l’instabilité génomique du lymphome de Hodgkin via l’instabilité des microsatellites et l’instabilité chromosomique en utilisant 7 lignées de lymphome de Hodgkin. Nous avons montré pour la première fois l’implication des microsatellites dans l’instabilité génomique des lymphomes de Hodgkin (MSI-H (microsatellite instability-high) dans 3/7 lignées). De plus, nous avons montré que deux mécanismes favorisent l’émergence d’une instabilité chromosomique : le premier implique une instabilité télomérique qui est présente essentiellement dans les petites cellules tumorales induisant la formation des chromosomes dicentriques, des amplifications des gènes (Jak2 comme exemple) et des arrangements chromosomiques complexes. Le deuxième mécanisme est lié essentiellement à un défaut de réparation des cassures double-brin avec l’apparition des chromosomes dicentriques sporadiques et une fréquence importante des micronoyaux avec la formation des ponts anaphasiques.La deuxième partie de cette thèse a été consacrée à l’étude des mécanismes de maintenance des télomères dans les ganglions tumoraux du lymphome de Hodgkin (50 patients) comme dans les lignées tumorales. Nous avons montré qu’il existe une cohabitation entre les deux mécanismes importants de maintenance des télomères, l’activation de la télomérase d’une part et le mécanisme ALT (alternative lengthening of telomeres) d’autre part. Nous avons identifié la présence de petites cellules dans les ganglions hodgkiniens comme dans les lignées tumorales avec une forte activité de la télomérase par contre la cellule de Reed Sternberg est caractérisée par un profil ALT avec la présence des corps PML et une très faible activité de télomérase. La fréquence des cellules télomérase ou ALT varie d’un ganglion à un autre et d’une lignée à une autre. Un drastique raccourcissement télomérique a été observé dans les cellules exprimant la télomérase. Pour les cellules ALT, une grande hétérogénéité de la taille des télomères ainsi que la présence des chromosomes dicentriques sporadiques ont été détectées. Le suivi des patients à long terme pendant 10 ans, nous a permis d’établir une corrélation entre le profil ALT et la survenue de mortalités et de morbidités. De plus, l’étude de la radiosensibilité des lignées tumorales a montré que les lignées ALT sont plus résistantes que les lignées télomérases.La troisième partie de cette thèse a été consacrée à la validation de ces deux concepts d’instabilité chromosomique via l’instabilité télomérique et à celle des mécanismes de maintenance des télomères, en utilisant un modèle de lymphome de Hodgkin établi dans le laboratoire à partir de la lignée L428.Ces données auront une retombée clinique importante non seulement dans la compréhension et le traitement des lymphomes de Hodgkin mais aussi dans d’autres pathologies malignes
The study of Hodgkin lymphoma (HL), with its unique microenvironment and long clinical outcomes, has provided exceptional insights into several areas of tumour biology. Findings in HL have not only improved our understanding of human carcinogenesis, but have also pioneered its translation into the clinic.Tumoral cells in HL, called Hodgkin and reed Sternberg cells (HRS), are characterized by a highly altered genomic landscape with a wide spectrum of genomic alterations, including somatic mutations, copy number alterations, complex chromosomal rearrangements, and aneuploidy. Moreover, the scarcity of HRS cells and the resulting technical problems of their in situ characterization, the primary cytogenetic events and the clonality of these possible aberrations has been a matter of debate in the past. As a consequence, a few accepted and established HL cell lines are widely used in the majority of research projects conducted worldwide.In this thesis, first we have first investigated the possible mechanisms underlying genomic instability including microsatellite and chromosomal instability in HL cell lines. We provide the first evidence that the genomic instability observed in HL is related to microsatellite instability and chromosomal instability related to two major mechanisms: first, telomere fusion leading to dicentric chromosomes formation and breakage/fusion/bridge (B/F/B) cycles involving the repeated fusion and breakage of chromosomes following the loss of telomeres in small cells associated with the lower expression of TRF2, as well as an elevated copy number of the Jak2 gene and the presence of nucleoplasmic bridges containing telomere and centromere sequences. The second mechanism is related to defective DNA repair via non homologous end-joining (NHEJ) repair with the presence of nucleoplasmic bridges without telomere or centromere sequences, accompanied by the micronucleus without centromere sequences and a higher frequency of sporadic dicentric chromosomes.The second part of this thesis has focused on investigating telomere maintenance mechanisms (TMMs) not only in HL cell lines but also in lymph nodes of HL patients. A telomerase-independent mechanism for TMM in HL has been proposed in the absence of detectable telomerase activity (TA) in some cases. The major finding of this work has been the demonstration of the presence of both telomerase and ALT mechanism in lymph nodes of HL patients as well as in HL cell lines. We have identified a subset of tumors with some small cells expressing telomerase and Reed Sternberg cells containing ALT-associated PML bodies. A significant correlation was observed between telomere length and TMMs. Drastic telomere shortening was observed in cells with telomerase expression and elevated heterogeneity of telomere length was found in ALT profile cells. Interestingly, complex chromosomal rearrangements, included sporadic dicentric formation, were observed in ALT profile cell lines. Interestingly, the relationship between TMMs and all-cause mortality and morbidity during 10 years of follow-up of HL patients using cox proportion hazard models demonstrated a poor clinical outcome for HL patients exhibiting primarily ALT mechanisms. Similarly, higher radiation sensitivity was observed for cell lines with high telomerase activity compared to cell lines with the ALT profile

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Harvey, Alison Nichola. "The induction and production of chromosomal aberrations by restriction endonucleases." Thesis, Open University, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.388300.

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El-Mehidi, N. S. "Bayesian network models of interdependent chromosomal aberrations in unstable cancer genomes." Thesis, University College London (University of London), 2009. http://discovery.ucl.ac.uk/17425/.

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Cancer results from the sequential accumulation of heterogeneous mutations and epigenetic changes, leading to “onco-selection” of cells with survival/growth advantages in specific microenvironments. Chemotherapy and radiotherapy act by damaging DNA; uncoupling DNA damage from cell death can cause treatment resistance. Deregulation of the DNA damage response (DDR) can result from aberrant expression of DDR-related genes, due to chromosomal aberrations. Solid tumours often have multiple, recurrent chromosomal aberrations, suggesting coordinated somatic evolution of cancer genomes via co-selection of interdependent chromosomal aberrations. This thesis investigates the hypothesis that “onco-selection” acts on unstable cancer genomes by selecting for multiple changes together. A comprehensive DDR signalling network was constructed. The cytogenetic location of its genes was analysed. The non-random genomic organisation of DDR genes partly coincided with regulation by shared transcription factors, notably oncogenic SNAIL. SNAIL expression was investigated in relation to hypoxia and apoptosis in xenografts of four human colorectal cancer cell lines. SW1222 and LS174T had weak and strong SNAIL expression, respectively, so could be used to investigate the role of SNAIL in treatment resistance through regulation of DDR genes. Bayesian Networks (BNs) were constructed to model probabilistic dependencies between the proposed co-selected, DDR-related chromosomal aberrations in breast, colorectal, lung, ovarian and prostate cancer. The significance of the models was assessed using newly-developed software. Breast cancer involved both co-selection of aberrations on different chromosomes and loss/gain of adjacent regions, whereas loss/gain of adjacent chromosomal regions predominated in the other cancers. A therapeutic combination of DDR targets (RELA, DVL1, E2Fs, CDC45L and MAP2K1/2) was proposed by mapping the predicted dependencies in the breast cancer BN model onto the DDR network, and analysing gene function and network topology. DDR network motif analysis further supported the importance of targeting RELA in combination therapies. This thesis provides insight into cancer resistance to DNA damaging therapies, and may help to predict new personalized combinations of targets to overcome treatment resistance.

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Southern, Shirley Anne. "Karyotypic analysis of cervical neoplasia : chromosomal aberrations and human papillomavirus infection." Thesis, University of Liverpool, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.367063.

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Sjöling, Åsa. "Molecular genetic analysis of chromosomal aberrations in DMBA-induced rat fibrosarcomas /." Göteborg : Göteborg university, 2002. http://catalogue.bnf.fr/ark:/12148/cb39929313x.

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Books on the topic "Chromosomal aberrations"

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Obe, Günter, and A. T. Natarajan, eds. Chromosomal Aberrations. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5.

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Chromosomal variation in man: A catalog of chromosomal variants and anomalies. 8th ed. New York: Wiley-Liss, 1997.

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Chromosomal variation in man: A catalog of chromosomal variants and anomalies. 5th ed. New York: Liss, 1989.

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Chromosomal variation in man: A catalog of chromosomal variants and anomalies. 6th ed. New York: Wiley-Liss, 1991.

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Chromosomal variation in man: A catalog of chromosomal variants and anomalies. 7th ed. New York: Wiley-Liss, 1994.

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6

Bhat, Tariq Ahmad, and Aijaz Ahmad Wani, eds. Chromosome Structure and Aberrations. New Delhi: Springer India, 2017. http://dx.doi.org/10.1007/978-81-322-3673-3.

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The genome. New York, N.Y: VCH Publishers, 1990.

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8

Catalog of chromosome aberrations in cancer. 3rd ed. New York: Liss, 1988.

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9

Felix, Mitelman, ed. Catalog of chromosome aberrations in cancer. 2nd ed. New York: Liss, 1985.

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10

1963-, Johansson Bertil, and Mertens Fredrik, eds. Catalog of chromosome aberrations in cancer. 5th ed. New York: Wiley-Liss, 1994.

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Book chapters on the topic "Chromosomal aberrations"

1

Schroeder-Kurth, T. M., U. Cramer-Giraud, and U. Mannsperger. "Human Disorders with Increased Spontaneous and Induced Chromosomal Instability." In Chromosomal Aberrations, 121–29. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_13.

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Ishidate, M. "In Vitro Chromosomal Aberration Test — Current Status." In Chromosomal Aberrations, 260–72. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_25.

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Johannes, C., and G. Obe. "Induction of Chromosomal Aberrations by the Restriction Endonuclease AluI in Chinese Hamster Ovary (CHO) Cells: Influence of Glycerol on Aberration Frequencies." In Chromosomal Aberrations, 79–85. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_9.

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Drets, M. E., G. A. Folle, and F. J. Monteverde. "Quantitative Detection of Chromosome Structures by Computerized Microphotometric Scanning." In Chromosomal Aberrations, 1–12. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_1.

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Mitelman, F. "Patterns of Chromosome Variation in Neoplasia." In Chromosomal Aberrations, 86–100. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_10.

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Hittelman, W. N., N. Cheong, H. Y. Sohn, J. S. Lee, J. D. Tigaud, and S. Vadhan-Raj. "Tumorigenesis and Tumor Response: View from the (Prematurely Condensed) Chromosome." In Chromosomal Aberrations, 101–12. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_11.

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Sanford, K. K., and R. Parshad. "Detection of Cancer-Prone Individuals Using Cytogenetic Response to X-Rays." In Chromosomal Aberrations, 113–20. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_12.

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Olivieri, G., and A. Bosi. "Possible Causes of Variability of the Adaptive Response in Human Lymphocytes." In Chromosomal Aberrations, 130–39. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_14.

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Wolff, S., G. Olivieri, and V. Afzal. "Adaptation of Human Lymphocytes to Radiation or Chemical Mutagens: Differences in Cytogenetic Repair." In Chromosomal Aberrations, 140–50. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_15.

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Ikushima, T. "Radio-Adaptive Response: A Novel Chromosomal Response in Chinese Hamster Cells in Vitro." In Chromosomal Aberrations, 151–62. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_16.

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Conference papers on the topic "Chromosomal aberrations"

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Elena, Bonciu. "CHROMOSOMAL ABERRATIONS INDUCED BY PENTIMETHALIN IN ALLIUM SATIVUM ROOT MERISTEMS." In 14th SGEM GeoConference on NANO, BIO AND GREEN � TECHNOLOGIES FOR A SUSTAINABLE FUTURE. Stef92 Technology, 2014. http://dx.doi.org/10.5593/sgem2014/b61/s25.042.

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Xia, Hong, Yuanning Liu, Minghui Wang, Huanqing Feng, and Ao Li. "A novel HMM for analyzing chromosomal aberrations in heterogeneous tumor samples." In 2013 7th International Conference on Systems Biology (ISB). IEEE, 2013. http://dx.doi.org/10.1109/isb.2013.6623800.

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Tokunaga, E., N. Yamashita, K. Tanaka, H. Saeki, E. Oki, H. Kitao, M. Morita, and Y. Maehara. "Abstract P2-08-04: Subtype specific chromosomal aberrations in breast cancer." In Abstracts: Thirty-Sixth Annual CTRC-AACR San Antonio Breast Cancer Symposium - Dec 10-14, 2013; San Antonio, TX. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/0008-5472.sabcs13-p2-08-04.

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Goh, Xin Yi C., Jonathan RE Rees, Suet-Feung Chin, Scott Newman, Maria O'Donovan, Bauke YIstra, Carlos Caldas, Paul AW Edwards, and Rebecca C. Fitzgerald. "Abstract 1189: Chromosomal aberrations reveal novel genes with prognostic significance in esophageal adenocarcinoma." In Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-1189.

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Orjuela, Manuela A., Xinhua Liu, Rachel Miller, Deliang Tang, Claudia P. Cujar, Ida Hui Suen, Aisha L. Siebert, Lori Hoepner, Dorothy Warburton, and Federica Perera. "Abstract LB-402: Chromosomal aberrations in 5-year olds and urinary PAH metabolites." In Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-lb-402.

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Bradley, Amanda, Kerstin Heselmeyer-Haddad, Timo Gaiser, Woei-Jyh Lee, Alejandro A. Schaffer, Sonia Andersson, and Thomas Ried. "Abstract 2107: Clonal patterns of chromosomal aberrations in cervical cancers and precursor lesions." In Proceedings: AACR 103rd Annual Meeting 2012‐‐ Mar 31‐Apr 4, 2012; Chicago, IL. American Association for Cancer Research, 2012. http://dx.doi.org/10.1158/1538-7445.am2012-2107.

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Lopez, Gonzalo, Mariano Alvarez, James Chen, Presha Rajbhandari, Kristina A. Cole, Edward F. Attiyeh, Sharon Diskin, et al. "Abstract PR10: Oncogenic dysregulations in neuroblastoma are associated with distal large chromosomal aberrations." In Abstracts: AACR Special Conference: Computational and Systems Biology of Cancer; February 8-11, 2015; San Francisco, CA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.compsysbio-pr10.

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Burghel, George J., Wei-Yu Lin, Dave Hammond, Jonathan Bury, Simon S. Cross, and Angela Cox. "Abstract 3055: Identification of potential colorectal cancer driver genes in focal chromosomal aberrations." In Proceedings: AACR 102nd Annual Meeting 2011‐‐ Apr 2‐6, 2011; Orlando, FL. American Association for Cancer Research, 2011. http://dx.doi.org/10.1158/1538-7445.am2011-3055.

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Hervé du Penhoat, M. A. "DNA Breaks, Chromosomal Aberrations And Cell Inactivation Induced By K Ionization Events In DNA." In APPLICATION OF ACCELERATORS IN RESEARCH AND INDUSTRY: 17TH International Conference on the Application of Accelerators in Research and Industry. AIP, 2003. http://dx.doi.org/10.1063/1.1619663.

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Lopez, Gonzalo, Mariano Alvarez, James Chen, Presha Rajbhandari, Kristina A. Cole, Edward F. Attiyeh, Sharon Diskin, et al. "Abstract A2-09: Oncogenic dysregulations in neuroblastoma are associated with distal large chromosomal aberrations." In Abstracts: AACR Special Conference: Translation of the Cancer Genome; February 7-9, 2015; San Francisco, CA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.transcagen-a2-09.

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Reports on the topic "Chromosomal aberrations"

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Brenner, David J. MFISH Measurements of Chromosomal Aberrations Individuals Exposed in Utero to Gamma-ray Doses from 5 to 20 cGy. Office of Scientific and Technical Information (OSTI), November 2009. http://dx.doi.org/10.2172/967363.

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Naylor, Susan L. Y Chromosome Aberrations in Prostate Cancer. Fort Belvoir, VA: Defense Technical Information Center, September 2001. http://dx.doi.org/10.21236/ada404706.

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Naylor, Susan L. Y Chromosome Aberrations in Prostate Cancer. Fort Belvoir, VA: Defense Technical Information Center, September 2004. http://dx.doi.org/10.21236/ada431579.

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Song, Jian. Test for Chemical Induction of Chromosome Aberrations in Cultured Chinese Hamster Ovary (CHO) Cells with and without Metabolic Activation, Test Article: 3-Nitro-1,2,4-Triazol-5-one (NTO). Fort Belvoir, VA: Defense Technical Information Center, October 2008. http://dx.doi.org/10.21236/ada518834.

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Song, Jian. Test for Chemical Induction of Chromosome Aberration in Cultured Chinese Hamster Ovary (CHO) Cells With and Without Metabolic Activation. Test Article: N,N,N',N'-tetramethyl Ethanediamine (TMEDA). Fort Belvoir, VA: Defense Technical Information Center, June 2008. http://dx.doi.org/10.21236/ada519474.

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