chromosome aberrations

Summary

Summary: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.

Top Publications

  1. Venkitaraman A. Cancer suppression by the chromosome custodians, BRCA1 and BRCA2. Science. 2014;343:1470-5 pubmed publisher
  2. Birkbak N, Kochupurakkal B, Izarzugaza J, Eklund A, Li Y, Liu J, et al. Tumor mutation burden forecasts outcome in ovarian cancer with BRCA1 or BRCA2 mutations. PLoS ONE. 2013;8:e80023 pubmed publisher
    ..The significance of these genome-wide mutations is unknown. We hypothesize genome-wide mutation burden mirrors deficiencies in DNA repair and is associated with treatment outcome in ovarian cancer...
  3. Zhang C, Leibowitz M, Pellman D. Chromothripsis and beyond: rapid genome evolution from complex chromosomal rearrangements. Genes Dev. 2013;27:2513-30 pubmed publisher
    ..Finally, we summarize current models for underlying mechanisms and discuss strategies for testing these models...
  4. Avet Loiseau H, Attal M, Campion L, Caillot D, Hulin C, Marit G, et al. Long-term analysis of the IFM 99 trials for myeloma: cytogenetic abnormalities [t(4;14), del(17p), 1q gains] play a major role in defining long-term survival. J Clin Oncol. 2012;30:1949-52 pubmed publisher
    ..However, all of these predict shorter survival. To identify patients with a longer life expectancy, we updated the data of patients treated in the IFM (Intergroupe Francophone du Myelome) 99-02 and 99-04 trials...
  5. Jacobs K, Yeager M, Zhou W, Wacholder S, Wang Z, Rodríguez Santiago B, et al. Detectable clonal mosaicism and its relationship to aging and cancer. Nat Genet. 2012;44:651-8 pubmed publisher
    ..4; P = 3.8 × 10(-11)). These findings underscore the time-dependent nature of somatic events in the etiology of cancer and potentially other late-onset diseases...
  6. McGillivray G, Rosenfeld J, McKinlay Gardner R, Gillam L. Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing. Prenat Diagn. 2012;32:389-95 pubmed publisher
    ..Non-directive pre-test and post-test genetic counselling is central to the delivery of these ethical objectives...
  7. Beaudet A. The utility of chromosomal microarray analysis in developmental and behavioral pediatrics. Child Dev. 2013;84:121-32 pubmed publisher
    ..CMA has replaced Giemsa-banded karyotype as the first-tier test for genetic evaluation of children with developmental and behavioral disabilities...
  8. Suzuki K, Yamashita S. Low-dose radiation exposure and carcinogenesis. Jpn J Clin Oncol. 2012;42:563-8 pubmed publisher
    ..radiation by the genetic material in the cell leads to damage to DNA, which in turn leads to cell death, chromosome aberrations and gene mutations...
  9. Kawamoto T, Ohga N, Akiyama K, Hirata N, Kitahara S, Maishi N, et al. Tumor-derived microvesicles induce proangiogenic phenotype in endothelial cells via endocytosis. PLoS ONE. 2012;7:e34045 pubmed publisher
    ..Recent studies have shown that TMV contain numerous types of bioactive molecules and affect normal stromal cells in the tumor microenvironment. However, most of the functional mechanisms of TMV remain unclear...

More Information

Publications62

  1. Zaczek A, Markiewicz A, Supernat A, Bednarz Knoll N, Brandt B, Seroczynska B, et al. Prognostic value of TOP2A gene amplification and chromosome 17 polysomy in early breast cancer. Pathol Oncol Res. 2012;18:885-94 pubmed
    ..03). TOP2A gene amplification, but not chromosome 17 polysomy, carries negative prognostic information in early breast cancer. Given the aforementioned results, qPCR might serve as a prognostic tool in determining the patient's prognosis...
  2. Ben David U, Mayshar Y, Benvenisty N. Virtual karyotyping of pluripotent stem cells on the basis of their global gene expression profiles. Nat Protoc. 2013;8:989-97 pubmed publisher
    ..The experimental steps of e-karyotyping can be carried out in ?20-30 h...
  3. Korbel J, Campbell P. Criteria for inference of chromothripsis in cancer genomes. Cell. 2013;152:1226-36 pubmed publisher
    ..Robust means of inference may facilitate in-depth studies on the impact of, and the mechanisms underlying, chromothripsis. ..
  4. Reddy U, Page G, Saade G, Silver R, Thorsten V, Parker C, et al. Karyotype versus microarray testing for genetic abnormalities after stillbirth. N Engl J Med. 2012;367:2185-93 pubmed publisher
    ..Unlike karyotype analysis, microarray analysis does not require live cells, and it detects small deletions and duplications called copy-number variants...
  5. Wapner R, Martin C, Levy B, Ballif B, Eng C, Zachary J, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367:2175-84 pubmed publisher
    ..We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis...
  6. Kim T, Xi R, Luquette L, Park R, Johnson M, Park P. Functional genomic analysis of chromosomal aberrations in a compendium of 8000 cancer genomes. Genome Res. 2013;23:217-27 pubmed publisher
    ..Taken together, our comprehensive view of copy number alterations provides a framework for understanding the functional significance of various genomic alterations in cancer genomes...
  7. Forment J, Kaidi A, Jackson S. Chromothripsis and cancer: causes and consequences of chromosome shattering. Nat Rev Cancer. 2012;12:663-70 pubmed publisher
    ..We also discuss the potential diagnostic, prognostic and therapeutic implications of chromothripsis in cancer...
  8. Brodie D, Beyer C, Osborne E, Kralevski V, Rasi S, Osianlis T. Preimplantation genetic diagnosis for chromosome rearrangements - one blastomere biopsy versus two blastomere biopsy. J Assist Reprod Genet. 2012;29:821-7 pubmed publisher
    ..The data presented in this study compares the impact of one versus two blastomere biopsy on the likelihood of achieving a PGD result, as well as the effect on subsequent embryo development and clinical outcomes...
  9. Pellicioli A, Visioli F, Ferreira L, Danilevicz C, Carrard V, Rados P. Cytogenetic abnormalities in exfoliated oral mucosal cells and their association with oral cancer. Anal Quant Cytol Histol. 2011;33:271-6 pubmed
  10. Werner M, Reh A, Grifo J, Perle M. Characteristics of chromosomal abnormalities diagnosed after spontaneous abortions in an infertile population. J Assist Reprod Genet. 2012;29:817-20 pubmed publisher
    ..To estimate the prevalence of chromosomally abnormal related miscarriages in an infertile population...
  11. Wapner R, Driscoll D, Simpson J. Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial. Prenat Diagn. 2012;32:396-400 pubmed publisher
    ..Of equal import is additional research into patient attitudes and desires, and a better understanding of the full phenotypic spectrum of copy number variants discovered in utero...
  12. Wu C, Wyatt A, McPherson A, Lin D, McConeghy B, Mo F, et al. Poly-gene fusion transcripts and chromothripsis in prostate cancer. Genes Chromosomes Cancer. 2012;51:1144-53 pubmed publisher
    ..The implication that multigenic changes can give rise to poly-gene fusion transcripts is potentially of great significance to cancer genetics...
  13. Costa A, Vasudevan A, Krepischi A, Rosenberg C, Chauffaille M. Single-nucleotide polymorphism-array improves detection rate of genomic alterations in core-binding factor leukemia. Med Oncol. 2013;30:579 pubmed publisher
  14. Laurie C, Laurie C, Rice K, Doheny K, Zelnick L, McHugh C, et al. Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet. 2012;44:642-50 pubmed publisher
  15. Yin X, Tan K, Vajta G, Jiang H, Tan Y, Zhang C, et al. Massively parallel sequencing for chromosomal abnormality testing in trophectoderm cells of human blastocysts. Biol Reprod. 2013;88:69 pubmed publisher
    ..Our study demonstrated MPS could be applied to accurately detect embryonic chromosomal abnormality with a flexible and cost-effective strategy and higher potential accuracy...
  16. Liju V, Jeena K, Kuttan R. Acute and subchronic toxicity as well as mutagenic evaluation of essential oil from turmeric (Curcuma longa L). Food Chem Toxicol. 2013;53:52-61 pubmed publisher
    ..Administration of TEO to rats (1 g/kg b.wt.) for 14 days did not produce any chromosome aberration or micronuclei in rat bone marrow cells and did not produce any DNA damage as seen by comet assay confirming the non toxicity of TEO...
  17. Loucas B, Durante M, Bailey S, Cornforth M. Chromosome damage in human cells by ? rays, ? particles and heavy ions: track interactions in basic dose-response relationships. Radiat Res. 2013;179:9-20 pubmed publisher
    ..While such track interaction had been previously theorized, to the best of our knowledge, it has never been demonstrated experimentally...
  18. Milosevic J, Puda A, Malcovati L, Berg T, Hofbauer M, Stukalov A, et al. Clinical significance of genetic aberrations in secondary acute myeloid leukemia. Am J Hematol. 2012;87:1010-6 pubmed publisher
    ..Somatic mutations in TP53 are the only independent adverse prognostic factor in sAML. Patients with dnAML and complex karyotype show genetic features associated with sAML and myeloproliferative neoplasms...
  19. Raza A, Galili N. The genetic basis of phenotypic heterogeneity in myelodysplastic syndromes. Nat Rev Cancer. 2012;12:849-59 pubmed publisher
    ..Although emerging insights establish an association between molecular abnormalities and the phenotypic heterogeneity of MDS, their origin and progression remain enigmatic...
  20. Nik Zainal S, Van Loo P, Wedge D, Alexandrov L, Greenman C, Lau K, et al. The life history of 21 breast cancers. Cell. 2012;149:994-1007 pubmed publisher
    ..Expansion of the dominant subclone to an appreciable mass may therefore represent the final rate-limiting step in a breast cancer's development, triggering diagnosis...
  21. Shaffer L, Rosenfeld J, Dabell M, Coppinger J, Bandholz A, Ellison J, et al. Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenat Diagn. 2012;32:986-95 pubmed publisher
    ..The aim of this study is to understand the diagnostic utility of comparative genomic hybridization (CGH)-based microarrays for pregnancies with abnormal ultrasound findings...
  22. Baca S, Prandi D, Lawrence M, Mosquera J, Romanel A, Drier Y, et al. Punctuated evolution of prostate cancer genomes. Cell. 2013;153:666-77 pubmed publisher
    ..By characterizing the clonal hierarchy of genomic lesions in prostate tumors, we charted a path of oncogenic events along which chromoplexy may drive prostate carcinogenesis...
  23. Puiggros A, Puigdecanet E, Salido M, Ferrer A, Abella E, Gimeno E, et al. Genomic arrays in chronic lymphocytic leukemia routine clinical practice: are we ready to substitute conventional cytogenetics and fluorescence in situ hybridization techniques?. Leuk Lymphoma. 2013;54:986-95 pubmed publisher
    ..In conclusion, genomic arrays are valid to detect known and novel genomic imbalances in CLL, but should be maintained as a complementary tool to the current techniques...
  24. Foster H, Estrada Girona G, Themis M, Garimberti E, Hill M, Bridger J, et al. Relative proximity of chromosome territories influences chromosome exchange partners in radiation-induced chromosome rearrangements in primary human bronchial epithelial cells. Mutat Res. 2013;756:66-77 pubmed publisher
  25. Vulto van Silfhout A, van Ravenswaaij C, Hehir Kwa J, Verwiel E, Dirks R, Van Vooren S, et al. An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations. Eur J Med Genet. 2013;56:471-4 pubmed publisher
    The European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA, www.ecaruca...
  26. Nyquist K, Panagopoulos I, Thorsen J, Haugom L, Gorunova L, Bjerkehagen B, et al. Whole-transcriptome sequencing identifies novel IRF2BP2-CDX1 fusion gene brought about by translocation t(1;5)(q42;q32) in mesenchymal chondrosarcoma. PLoS ONE. 2012;7:e49705 pubmed publisher
    ..This demonstrates that genetic heterogeneity exists in mesenchymal chondrosarcoma...
  27. Holland A, Cleveland D. Chromoanagenesis and cancer: mechanisms and consequences of localized, complex chromosomal rearrangements. Nat Med. 2012;18:1630-8 pubmed publisher
    ..Complex rearrangements are present in a broad spectrum of tumors and in individuals with congenital or developmental defects, highlighting the impact of chromoanagenesis on human disease...
  28. Coupland S, Lake S, Zeschnigk M, Damato B. Molecular pathology of uveal melanoma. Eye (Lond). 2013;27:230-42 pubmed publisher
    ..The identification of abnormal signalling pathways, genes and proteins in UM opens the way for target-based therapies, improving prospects for conserving vision and prolonging life...
  29. Huh J, Jung C, Kim H, Kim Y, Moon J, Sohn S, et al. Different characteristics identified by single nucleotide polymorphism array analysis in leukemia suggest the need for different application strategies depending on disease category. Genes Chromosomes Cancer. 2013;52:44-55 pubmed publisher
    ..In conclusion, different patterns of abnormal lesions were presented according to the disease category, thus requiring a different approach of adopting SNP-A-based karyotyping among different leukemia subtypes...
  30. Talkowski M, Rosenfeld J, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, et al. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012;149:525-37 pubmed publisher
  31. Scott K, Hong K, Scott R. Selecting the optimal time to perform biopsy for preimplantation genetic testing. Fertil Steril. 2013;100:608-14 pubmed publisher
    ..At present the blastocyst stage is the optimal time to perform biopsies for preimplantation genetic testing. ..
  32. Breman A, Pursley A, Hixson P, Bi W, Ward P, Bacino C, et al. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat Diagn. 2012;32:351-61 pubmed publisher
    ..To evaluate the results of prenatal chromosomal microarray analysis (CMA) on >1000 fetal samples referred for testing at our institution and to compare these data to published reports...
  33. Chandrasekaran C, Srikanth H, Anand M, Allan J, Viji M, Amit A. Evaluation of the mutagenic potential and acute oral toxicity of standardized extract of Ocimum sanctum (OciBest™). Hum Exp Toxicol. 2013;32:992-1004 pubmed publisher
    ..In an acute oral toxicity test, rats were treated with 5 g/kg of OciBest™ and observed for signs of toxicity for 14 days and the results did not show any treatment-related toxic effects to Wistar rats...
  34. Avet Loiseau H, Durie B, Cavo M, Attal M, Gutierrez N, Haessler J, et al. Combining fluorescent in situ hybridization data with ISS staging improves risk assessment in myeloma: an International Myeloma Working Group collaborative project. Leukemia. 2013;27:711-7 pubmed publisher
    ..The additional impact of patient age and use of high-dose therapy was also demonstrated. In conclusion, the combination of iFISH data with ISS staging significantly improves risk assessment in myeloma...
  35. Conte M, Altucci L. Functions, aberrations, and advances for chromatin modulation in cancer. Cancer Treat Res. 2014;159:227-39 pubmed publisher
    ..A better insight into alterations occurring on chromatin enzymes and their impact in cancer thus represents a crucial step in exploiting epigenetic targeting in cancer prevention and treatment. ..
  36. Mir P, Mateu E, Mercader A, Herrer R, Rodrigo L, Vera M, et al. Confirmation rates of array-CGH in day-3 embryo and blastocyst biopsies for preimplantation genetic screening. J Assist Reprod Genet. 2016;33:59-66 pubmed publisher
  37. Tao N, Liu G, Bai L, Tang L, Guo C. Genotoxicity and growth inhibition effects of aniline on wheat. Chemosphere. 2017;169:467-473 pubmed publisher
    ..However, understanding the mechanisms that underlie aniline genotoxicity in plants needs further study. ..
  38. Yamamoto K, Kawamoto S, Mizutani Y, Yakushijin K, Yamashita T, Nakamachi Y, et al. Mixed Phenotype Acute Leukemia with t(12;17)(p13;q21)/TAF15-ZNF384 and Other Chromosome Abnormalities. Cytogenet Genome Res. 2016;149:165-170 pubmed
    ..Furthermore, der(1;18)(q10;q10) might play some role in the appearance of an additional myeloid phenotype...
  39. Teixeira W, Marques F, Freire M. Retrospective karyotype study in mentally retarded patients. Rev Assoc Med Bras (1992). 2016;62:262-8 pubmed publisher
    ..However, higher resolution techniques such as array based comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MPLA) can detect submicroscopic alterations commonly associated with MR. ..
  40. Tang X, Yang B, Zhu S, Su J, Zhang J, Yin Y, et al. [Prenatal diagnosis of chromosome abnormalities and nine microdeletion syndromes using both traditional karyotyping and BoBs]. Zhonghua Fu Chan Ke Za Zhi. 2016;51:325-30 pubmed publisher
    ..To evaluate a new prenatal diagnosis model of chromosomal abnormalities and nine microdeletion syndromes by using both traditional karyotyping and a newly-developed rapid prenatal diagnosis technology, BACs-on-Beads (BoBs) technique...
  41. Charkiewicz K, Zbucka Kretowska M, Goscik J, Wolczynski S, Lemancewicz A, Laudanski P. Brief Communication: Maternal Plasma Autoantibodies Screening in Fetal Down Syndrome. J Immunol Res. 2016;2016:9362169 pubmed publisher
    ..Defining their potential as biochemical markers of Down syndrome pregnancy requires further investigation on larger group of patients. ..
  42. Cunha M, Testa E, Komova O, Nasonova E, Mel nikova L, Shmakova N, et al. Modeling cell response to low doses of photon irradiation: Part 2--application to radiation-induced chromosomal aberrations in human carcinoma cells. Radiat Environ Biophys. 2016;55:31-40 pubmed publisher
    ..The mitochondria network, viewed either as a large target or as a set of small units, might be concerned by these low-dose effects. ..
  43. Å kunca Å, Domimis M, Plninc Peraica A, JakÅ¡ić B. [Clinical features in DLBCL and translocation BCL2/c-MYC "double hit" lymphoma]. Acta Med Croatica. 2014;68:299-305 pubmed
    ..85 years. DLBCL with BCL2 and c-MYC rearrangement of the subgroups of lymphoma is associated with very poor survival. The presence of these two translocations has an aggressive clinical course. ..
  44. Jenderny J, Schmidt W, Kochhan L. Chromosome aberrations identified by cytogenetic analysis of the first two clones of cultured amniotic fluid cells compared with QF-PCR results. Cytogenet Genome Res. 2014;142:239-44 pubmed publisher
    ..We investigated the incidence and types of chromosome aberrations detected by CA of 196 amniocenteses performed on pregnant women at high risk...
  45. Szakszon K, Ujfalusi A, Balogh E, Mogyorosy G, Felszeghy E, Szilvássy J, et al. [Deletion 15q26 syndrome]. Orv Hetil. 2014;155:362-4 pubmed publisher
    ..A brief overview of the literature is provided...
  46. Brehwens K, Bajinskis A, Haghdoost S, Wojcik A. Micronucleus frequencies and clonogenic cell survival in TK6 cells exposed to changing dose rates under controlled temperature conditions. Int J Radiat Biol. 2014;90:241-7 pubmed publisher
    ..The current study highlights interesting effects following exposure under these conditions...
  47. Carli D, Fairplay T, Ferrari P, Sartini S, Lando M, Garagnani L, et al. Genetic basis of congenital upper limb anomalies: analysis of 487 cases of a specialized clinic. Birth Defects Res A Clin Mol Teratol. 2013;97:798-805 pubmed publisher
    ..In this study, we aim at defining the CULA etiology of patients that have been evaluated at the Modena University Hospital's Congenital Hand Malformations multidisciplinary clinic in the years 2004 to 2012...
  48. Kaur J, Malik M, Gulati R, Azad S, Goswami S. Genetic determinants of uveal melanoma. Tumour Biol. 2014;35:11711-7 pubmed publisher
    ..This article describes the cytogenetic, molecular pathogenesis, and prognostic factors along with the most important findings and their attribution to current and future management of uveal melanoma. ..
  49. Qu X, Jeldres C, Glaskova L, Friedman C, Schroeder S, Nelson P, et al. Identification of Combinatorial Genomic Abnormalities Associated with Prostate Cancer Early Recurrence. J Mol Diagn. 2016;18:215-24 pubmed publisher
    ..The three-marker FISH panel demonstrated prognostic utility and identified genomic aberrations associated with advanced disease state and early BcR in prostate cancer. ..
  50. Elwej A, Ben Salah G, Kallel C, Fakhfakh F, Zeghal N, Ben Amara I. Protective effects of pomegranate peel against hematotoxicity, chromosomal aberrations, and genotoxicity induced by barium chloride in adult rats. Pharm Biol. 2016;54:964-74 pubmed publisher
    ..Pomegranate peel (PP) has health benefits including antibacterial, antioxidant, anti-inflammatory, and antimutagenic properties...
  51. Forsberg L, Rasi C, Malmqvist N, Davies H, Pasupulati S, Pakalapati G, et al. Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer. Nat Genet. 2014;46:624-8 pubmed publisher
    ..LOY in blood could become a predictive biomarker of male carcinogenesis...
  52. Shuryak I. Quantitative modeling of responses to chronic ionizing radiation exposure using targeted and non-targeted effects. PLoS ONE. 2017;12:e0176476 pubmed publisher
    ..The importance of NTE in our model-based analysis suggests that the search for modulators of NTE-related signaling pathways could be a promising strategy for mitigating the deleterious effects of chronic irradiation...
  53. Graupner A, Eide D, Brede D, Ellender M, Lindbo Hansen E, Oughton D, et al. Genotoxic effects of high dose rate X-ray and low dose rate gamma radiation in ApcMin/+ mice. Environ Mol Mutagen. 2017;58:560-569 pubmed publisher
    ..Environ. Mol. Mutagen. 58:560-569, 2017. © 2017 The Authors Environmental and Molecular Mutagenesis published by Wiley Periodicals, Inc. on behalf of Environmental Mutagen Society. ..