chromosome aberrations


Summary: Abnormal number or structure of chromosomes. Many chromosome aberrations, but not all, are the cause of CHROMOSOME DISORDERS.

Top Publications

  1. ncbi Normal human mammary epithelial cells spontaneously escape senescence and acquire genomic changes
    S R Romanov
    Department of Pathology and UCSF Comprehensive Cancer Center, University of California at San Francisco, 94143-0506, USA
    Nature 409:633-7. 2001
  2. ncbi Outcome prediction in pediatric medulloblastoma based on DNA copy-number aberrations of chromosomes 6q and 17q and the MYC and MYCN loci
    Stefan Pfister
    Division of Molecular Genetics and Biostatistics and Clinical Cooperation Unit Neuropathology, German Cancer Research Center, Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany
    J Clin Oncol 27:1627-36. 2009
  3. pmc Massive genomic rearrangement acquired in a single catastrophic event during cancer development
    Philip J Stephens
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Cell 144:27-40. 2011
  4. pmc Assessing the significance of chromosomal aberrations in cancer: methodology and application to glioma
    Rameen Beroukhim
    Broad Institute, Massachusetts Institute of Technology and Harvard University, 7 Cambridge Center, Cambridge, MA 02142, USA
    Proc Natl Acad Sci U S A 104:20007-12. 2007
  5. pmc Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
    Pengfei Liu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Cell 146:889-903. 2011
  6. ncbi Chromosome segregation errors as a cause of DNA damage and structural chromosome aberrations
    Aniek Janssen
    Department of Medical Oncology and Cancer Genomics Center, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG, Utrecht, Netherlands
    Science 333:1895-8. 2011
  7. ncbi Genetic instabilities in human cancers
    C Lengauer
    Johns Hopkins Oncology Center, Baltimore, Maryland 21231, USA
    Nature 396:643-9. 1998
  8. ncbi Genomic aberrations and survival in chronic lymphocytic leukemia
    H Dohner
    Department of Internal Medicine III University of Ulm, Germany
    N Engl J Med 343:1910-6. 2000
  9. ncbi The impact of translocations and gene fusions on cancer causation
    Felix Mitelman
    Lund University, Department of Clinical Genetics, Lund University Hospital, SE 221 85 Lund, Sweden
    Nat Rev Cancer 7:233-45. 2007
  10. pmc Functional genomic analysis of chromosomal aberrations in a compendium of 8000 cancer genomes
    Tae Min Kim
    Center for Biomedical Informatics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Genome Res 23:217-27. 2013

Detail Information

Publications301 found, 100 shown here

  1. ncbi Normal human mammary epithelial cells spontaneously escape senescence and acquire genomic changes
    S R Romanov
    Department of Pathology and UCSF Comprehensive Cancer Center, University of California at San Francisco, 94143-0506, USA
    Nature 409:633-7. 2001
    ..The differences between epithelial cells and fibroblasts provide new insights into the mechanistic basis of neoplastic transformation...
  2. ncbi Outcome prediction in pediatric medulloblastoma based on DNA copy-number aberrations of chromosomes 6q and 17q and the MYC and MYCN loci
    Stefan Pfister
    Division of Molecular Genetics and Biostatistics and Clinical Cooperation Unit Neuropathology, German Cancer Research Center, Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany
    J Clin Oncol 27:1627-36. 2009
    ..Medulloblastoma is the most common malignant brain tumor in children. Current treatment decisions are based on clinical variables. Novel tumor-derived biomarkers may improve the risk stratification of medulloblastoma patients...
  3. pmc Massive genomic rearrangement acquired in a single catastrophic event during cancer development
    Philip J Stephens
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Cell 144:27-40. 2011
    ..We find that one, or indeed more than one, cancer-causing lesion can emerge out of the genomic crisis. This phenomenon has important implications for the origins of genomic remodeling and temporal emergence of cancer...
  4. pmc Assessing the significance of chromosomal aberrations in cancer: methodology and application to glioma
    Rameen Beroukhim
    Broad Institute, Massachusetts Institute of Technology and Harvard University, 7 Cambridge Center, Cambridge, MA 02142, USA
    Proc Natl Acad Sci U S A 104:20007-12. 2007
    ..Our results support the feasibility and utility of systematic characterization of the cancer genome...
  5. pmc Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
    Pengfei Liu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Cell 146:889-903. 2011
    ..The resemblance between CGR and chromothripsis suggests similar mechanistic underpinnings. Such chromosome catastrophic events appear to reflect basic DNA metabolism operative throughout an organism's life cycle...
  6. ncbi Chromosome segregation errors as a cause of DNA damage and structural chromosome aberrations
    Aniek Janssen
    Department of Medical Oncology and Cancer Genomics Center, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG, Utrecht, Netherlands
    Science 333:1895-8. 2011
    ..Here, we demonstrate that chromosome segregation errors can also result in structural chromosome aberrations. Chromosomes that missegregate are frequently damaged during cytokinesis, triggering a DNA double-strand ..
  7. ncbi Genetic instabilities in human cancers
    C Lengauer
    Johns Hopkins Oncology Center, Baltimore, Maryland 21231, USA
    Nature 396:643-9. 1998
    ..Recognition and comparison of these instabilities are leading to new insights into tumour pathogenesis...
  8. ncbi Genomic aberrations and survival in chronic lymphocytic leukemia
    H Dohner
    Department of Internal Medicine III University of Ulm, Germany
    N Engl J Med 343:1910-6. 2000
    ..We used this method to identify chromosomal abnormalities in patients with chronic lymphocytic leukemia and assessed their prognostic implications...
  9. ncbi The impact of translocations and gene fusions on cancer causation
    Felix Mitelman
    Lund University, Department of Clinical Genetics, Lund University Hospital, SE 221 85 Lund, Sweden
    Nat Rev Cancer 7:233-45. 2007
    b>Chromosome aberrations, in particular translocations and their corresponding gene fusions, have an important role in the initial steps of tumorigenesis; at present, 358 gene fusions involving 337 different genes have been identified...
  10. pmc Functional genomic analysis of chromosomal aberrations in a compendium of 8000 cancer genomes
    Tae Min Kim
    Center for Biomedical Informatics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Genome Res 23:217-27. 2013
    ..Taken together, our comprehensive view of copy number alterations provides a framework for understanding the functional significance of various genomic alterations in cancer genomes...
  11. ncbi Genomic and transcriptional aberrations linked to breast cancer pathophysiologies
    Koei Chin
    Comprehensive Cancer Center, 2340 Sutter Street, University of California, San Francisco, San Francisco, California 94143
    Cancer Cell 10:529-41. 2006
    ..Nine of these (FGFR1, IKBKB, ERBB2, PROCC, ADAM9, FNTA, ACACA, PNMT, and NR1D1) are considered druggable. Low-level CNAs appear to contribute to cancer progression by altering RNA and cellular metabolism...
  12. ncbi Chromosomal stability and the DNA double-stranded break connection
    D C van Gent
    Department of Cell Biology and Genetics, Erasmus University Rotterdam, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Nat Rev Genet 2:196-206. 2001
    ..Now, interactions between both double-stranded break-repair pathways and other cellular processes, such as cell-cycle regulation and replication, are being unveiled...
  13. pmc Identification of aneuploidy-tolerating mutations
    Eduardo M Torres
    David H Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, MA 02139, USA
    Cell 143:71-83. 2010
  14. ncbi Genetic abnormalities and survival in multiple myeloma: the experience of the Intergroupe Francophone du Myélome
    Herve Avet-Loiseau
    INSERM Unité 601, Laboratoire d Hematologie, Institut de Biologie, 9 quai Moncousu, 44093 Nantes, France
    Blood 109:3489-95. 2007
    ..In myeloma, the genomic aberrations t(4;14) and del(17p), together with beta2-microglobulin level, are important independent predictors of survival. These findings have implications for the design of risk-adapted treatment strategies...
  15. ncbi High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings
    M Tyreman
    Medical Genetics Department, Addenbrooke s Hospital, Cambridge CB2 0QQ, UK
    J Med Genet 46:531-41. 2009
    ..The diagnostic use of high resolution array genomic hybridisation analysis for prenatal testing remains to be systematically assessed...
  16. pmc Integrated study of copy number states and genotype calls using high-density SNP arrays
    Wei Sun
    Department of Biostatistics, University of North Carolina, Chapel Hill, NC, USA
    Nucleic Acids Res 37:5365-77. 2009
    ..We evaluated genoCN by applications to 162 HapMap individuals and a brain tumor (glioblastoma) dataset and showed that our method can successfully identify both types of copy number differences and produce high-quality genotype calls...
  17. ncbi Pretreatment cytogenetic abnormalities are predictive of induction success, cumulative incidence of relapse, and overall survival in adult patients with de novo acute myeloid leukemia: results from Cancer and Leukemia Group B (CALGB 8461)
    John C Byrd
    Division of Hematology and Oncology, Comprehensive Cancer Center, The Ohio State University, Columbus 43210 1240, USA
    Blood 100:4325-36. 2002
  18. pmc TERRA RNA binding to TRF2 facilitates heterochromatin formation and ORC recruitment at telomeres
    Zhong Deng
    The Wistar Institute, 3601 Spruce Street, Philadelphia, PA 19104, USA
    Mol Cell 35:403-13. 2009
    ..We conclude that TERRA facilitates TRF2 interaction with ORC and plays a central role in telomere structural maintenance and heterochromatin formation...
  19. pmc Complex landscapes of somatic rearrangement in human breast cancer genomes
    Philip J Stephens
    Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
    Nature 462:1005-10. 2009
    ..The study provides a new perspective on cancer genomes, highlighting the diversity of somatic rearrangements and their potential contribution to cancer development...
  20. ncbi Mechanisms of DNA double strand break repair and chromosome aberration formation
    G Iliakis
    Institute of Medical Radiation Biology, University of Duisburg Essen Medical School, Essen, Germany
    Cytogenet Genome Res 104:14-20. 2004 widely accepted that unrepaired or misrepaired DNA double strand breaks (DSBs) lead to the formation of chromosome aberrations. DSBs induced in the DNA of higher eukaryotes by endogenous processes or exogenous agents can in principle ..
  21. ncbi Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline
    Wigard P Kloosterman
    Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands
    Hum Mol Genet 20:1916-24. 2011
    ..We conclude that a similar mechanism may also drive the formation of de novo structural variation in the germline...
  22. ncbi Genotoxicity of silver nanoparticles in Allium cepa
    Mamta Kumari
    Nanobio Medicine Group, School of Bio Sciences and Technology, VIT University, Vellore 632014, India
    Sci Total Environ 407:5243-6. 2009
    ..The findings also suggest that plants as an important component of the ecosystems need to be included when evaluating the overall toxicological impact of the nanoparticles in the environment...
  23. ncbi TRF2 protects human telomeres from end-to-end fusions
    B van Steensel
    The Rockefeller University, New York, New York 10021, USA
    Cell 92:401-13. 1998
    ..The results raise the possibility that chromosome end fusions and senescence in primary human cells may be caused by loss by TRF2 from shortened telomeres...
  24. pmc The structure-specific endonuclease Ercc1-Xpf is required to resolve DNA interstrand cross-link-induced double-strand breaks
    Laura J Niedernhofer
    Department of Cell Biology and Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Mol Cell Biol 24:5776-87. 2004
    ..Collectively, these data support a role for Ercc1-Xpf in processing ICL-induced DSBs so that these cytotoxic intermediates can be repaired by homologous recombination...
  25. ncbi Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    Peter Szatmari
    Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada
    Nat Genet 39:319-28. 2007
    ..Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs...
  26. pmc Combining fluorescent in situ hybridization data with ISS staging improves risk assessment in myeloma: an International Myeloma Working Group collaborative project
    H Avet-Loiseau
    Unité de Génomique du Myélome, Laboratoire UGM, University Hospital, CHU Rangueil, Toulouse, France
    Leukemia 27:711-7. 2013
    ..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...
  27. ncbi Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype
    G D'Amours
    Service de Genetique Medicale, CHU Sainte Justine, Montreal, QC, Canada
    Clin Genet 81:128-41. 2012
    ..2% of tested fetuses (6/49). Our results document the value of whole-genome aCGH as a prenatal diagnostic tool and highlight the interpretation difficulties associated with copy number variations of unclear significance...
  28. ncbi First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis
    S Alfarawati
    Nuffield Department of Obstetrics and Gynaecology, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DU, UK
    Hum Reprod 26:1560-74. 2011
    ..In the current study, we explored the use of two comprehensive chromosome screening methods, conventional metaphase comparative genomic hybridization (CGH) and microarray-CGH (aCGH), as alternatives for PGD of chromosome rearrangements...
  29. pmc Unraveling the molecular pathophysiology of myelodysplastic syndromes
    Rafael Bejar
    Brigham and Women s Hospital, Karp Research Building, CHRB 05 211, 1 Blackfan Cir, Boston, MA 02115, USA
    J Clin Oncol 29:504-15. 2011
  30. ncbi Large-scale copy number polymorphism in the human genome
    Jonathan Sebat
    Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA
    Science 305:525-8. 2004
    ..We observed copy number variation of 70 different genes within CNP intervals, including genes involved in neurological function, regulation of cell growth, regulation of metabolism, and several genes known to be associated with disease...
  31. pmc Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways
    Preeti Bakrania
    Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 3QX, UK
    Am J Hum Genet 82:304-19. 2008
    ..Our finding of low-penetrant variants in BMP4 and HH signaling partners is suggestive of an interaction between the two pathways in humans...
  32. ncbi Complex human chromosomal and genomic rearrangements
    Feng Zhang
    Department of Molecular and Human Genetics, Baylor College of Medicine, and Texas Children s Hospital, Houston, TX 77030, USA
    Trends Genet 25:298-307. 2009
  33. ncbi Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
    Anita Rauch
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 140:2063-74. 2006
    ..If molecular karyotyping is not available, subtelomeric screening should be performed...
  34. ncbi Molecular characterization of breast cancer with high-resolution oligonucleotide comparative genomic hybridization array
    Fabrice Andre
    Translational Research Unit, UPRES03535, Paris Sud University, Orsay, France
    Clin Cancer Res 15:441-51. 2009
    ..We used high-resolution oligonucleotide comparative genomic hybridization (CGH) arrays and matching gene expression array data to identify dysregulated genes and to classify breast cancers according to gene copy number anomalies...
  35. pmc Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
    Jan P Schouten
    MRC Holland, Hudsonstraat 68, 1057SN Amsterdam, The Netherlands
    Nucleic Acids Res 30:e57. 2002
    ..Probe target sequences are small (50-70 nt). The prerequisite of a ligation reaction provides the opportunity to discriminate single nucleotide differences...
  36. ncbi Cytokinesis failure generating tetraploids promotes tumorigenesis in p53-null cells
    Takeshi Fujiwara
    Department of Pediatric Oncology, Dana Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nature 437:1043-7. 2005
    ..MMP overexpression is linked to mammary tumours in humans and animal models. Thus, tetraploidy enhances the frequency of chromosomal alterations and promotes tumour development in p53-/- MMECs...
  37. ncbi Genetic aberrations defined by comparative genomic hybridization distinguish long-term from typical survivors of glioblastoma
    Eric C Burton
    Department of Neurological Surgery, University of California, San Francisco 94143, USA
    Cancer Res 62:6205-10. 2002
    ..Loss of 19q may be a marker of long-term survival...
  38. pmc Genomic instability in breast cancer: pathogenesis and clinical implications
    Kevin A Kwei
    Department of Pathology, Stanford University School of Medicine, CCSR 3245A, 269 Campus Drive, Stanford, CA 94305 5176, USA
    Mol Oncol 4:255-66. 2010
    ..Future studies should clarify the pathogenesis of breast cancers with amplifier and complex-pattern genomes, and will likely identify new therapeutic opportunities...
  39. pmc Structural variation of chromosomes in autism spectrum disorder
    Christian R Marshall
    The Centre for Applied Genomics, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario M5G 1L7, Canada
    Am J Hum Genet 82:477-88. 2008
    ..Structural variants were found in sufficiently high frequency influencing ASD to suggest that cytogenetic and microarray analyses be considered in routine clinical workup...
  40. pmc High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping
    Daniel A Peiffer
    Illumina, Inc, San Diego, California 92121, USA
    Genome Res 16:1136-48. 2006
    ..Finally, the two analysis modes are compared and contrasted for their utility in analyzing different types of input gDNA: low input amounts, fragmented gDNA, and Phi29 whole-genome pre-amplified DNA...
  41. ncbi Individual and combined effects of ochratoxin A and citrinin on viability and DNA fragmentation in cultured Vero cells and on chromosome aberrations in mice bone marrow cells
    Amel Bouslimi
    Laboratory of Research on Biologically Compatible Compounds, Faculty of Dentistry, Rue Avicenne, 5019 Monastir, Tunisia
    Toxicology 251:1-7. 2008
    ..cell proliferation and DNA fragmentation in cultured Vero cells and in vivo by monitoring the induction of chromosome aberrations. Our results clearly showed that cultured renal cells respond to OTA and CTN exposure by a moderate and ..
  42. ncbi Integrative genomics identifies distinct molecular classes of neuroblastoma and shows that multiple genes are targeted by regional alterations in DNA copy number
    Qun Wang
    Division of Oncology, Children s Hospital of Philadelphia, PA 19104 4399, USA
    Cancer Res 66:6050-62. 2006
    ..Lead positional candidates for neuroblastoma suppressor genes can be inferred from these data, but the potential multiplicity of transcripts involved has significant implications for ongoing gene discovery strategies...
  43. ncbi Tumor-associated endothelial cells with cytogenetic abnormalities
    Kyoko Hida
    Vascular Biology Program, Department of Surgery, Children s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
    Cancer Res 64:8249-55. 2004
    ..FISH analysis of tumor sections also showed endothelial cell aneuploidy. We conclude that tumor endothelial cells can acquire cytogenetic abnormalities while in the tumor microenvironment...
  44. ncbi Identification of genomic aberrations associated with disease transformation by means of high-resolution SNP array analysis in patients with myeloproliferative neoplasm
    Elisa Rumi
    Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy
    Am J Hematol 86:974-9. 2011
  45. pmc Homologous recombination and non-homologous end-joining pathways of DNA double-strand break repair have overlapping roles in the maintenance of chromosomal integrity in vertebrate cells
    M Takata
    Department of Molecular Immunology and Allergology, Kyoto University Medical School, Konoe Yoshida, Sakyo ku, Kyoto 606 8315, Japan
    EMBO J 17:5497-508. 1998
    ..These observations provide the first genetic evidence that both repair pathways play a role in maintaining chromosomal DNA during the cell cycle...
  46. pmc Chromosome 3 anomalies investigated by genome wide SNP analysis of benign, low malignant potential and low grade ovarian serous tumours
    Ashley H Birch
    Department of Human Genetics, McGill University, Montreal, Canada
    PLoS ONE 6:e28250. 2011
    ..Taken together, our results support the view that LGOSC could arise from serous benign and LMP tumours, but does not exclude the possibility that HGOSC may derive from LMP tumours...
  47. ncbi Chromosome aberrations detected by conventional karyotyping using novel mitogens in chronic lymphocytic leukemia with "normal" FISH: correlations with clinicobiologic parameters
    Gian Matteo Rigolin
    Section of Hematology, Azienda Ospedaliero Universitaria, Arcispedale S Anna, University of Ferrara, Italy
    Blood 119:2310-3. 2012
    ..In patients with chronic lymphocytic leukemia with normal FISH, karyotypic aberrations by conventional cytogenetics with novel mitogens identify a subset of cases with adverse prognostic features...
  48. ncbi Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis
    B H W Faas
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    J Med Genet 47:586-94. 2010
    ..Therefore, we explore the possibilities for the prenatal application of the genome-wide 250k single nucleotide polymorphism array platform...
  49. ncbi CGHcall: calling aberrations for array CGH tumor profiles
    Mark A van de Wiel
    Department of Pathology, VU University Medical Center, PO Box 7057, 1007MB Amsterdam, The Netherlands
    Bioinformatics 23:892-4. 2007
    ..By incorporating more than three classes, CGHcall improves detection of single copy gains and amplifications. Moreover, it allows effective inclusion of chromosome arm information...
  50. ncbi Inferring tree models for oncogenesis from comparative genome hybridization data
    R Desper
    Department of Mathematics, Rutgers University, Piscataway, New Jersey, USA
    J Comput Biol 6:37-51. 1999
    ..We have implemented our methods in software, and we illustrate with a CGH data set for renal cancer...
  51. ncbi Accumulation of segmental alterations determines progression in neuroblastoma
    Gudrun Schleiermacher
    L Institut National de la Santé et de la Recherche Médicale U830, Institut Curie, 26 Rue d Ulm, 75248 Paris Cedex 05, France
    J Clin Oncol 28:3122-30. 2010
    ..We explored the role of segmental alterations in tumor progression and the possibility of evolution from indolent to aggressive genomic types...
  52. ncbi A simple method for simultaneous interphase-metaphase chromosome analysis in biodosimetry
    M Durante
    Space and Particle Radiation Group, National Institute of Radiological Sciences, Chiba, Japan
    Int J Radiat Biol 74:457-62. 1998
    ..To find a simple protocol for measuring chromosome damage both in G1 and in G2/M chromosomes, to overcome problems related to low mitotic index and cell-cycle alterations in biodosimetric tests...
  53. ncbi Distinct patterns of DNA copy number alteration are associated with different clinicopathological features and gene-expression subtypes of breast cancer
    Anna Bergamaschi
    Department of Genetics, Institute for Cancer Research, Rikshospitalet Radiumhospitalet Medical Center, Oslo, Norway
    Genes Chromosomes Cancer 45:1033-40. 2006
    ..This article contains Supplementary Material available at
  54. pmc Induced chromosomal proximity and gene fusions in prostate cancer
    Ram Shankar Mani
    Michigan Center for Translational Pathology, University of Michigan Medical School, Ann Arbor, MI 48109, USA
    Science 326:1230. 2009
    ..These results may help explain why TMPRSS2-ERG fusions are restricted to the prostate, which is dependent on androgen signaling...
  55. ncbi Genetic signatures of HPV-related and unrelated oropharyngeal carcinoma and their prognostic implications
    Jens P Klussmann
    Department of Oto Rhino Laryngology, Head and Neck Surgery, Jean Uhrmacher Institute, University of Cologne, Cologne, Germany
    Clin Cancer Res 15:1779-86. 2009
    ..Patients with human papillomavirus (HPV)-containing oropharyngeal squamous cell carcinomas (OSCC) have a better prognosis than patients with HPV-negative OSCC. This may be attributed to different genetic pathways promoting cancer...
  56. ncbi Genetics and cytogenetics of multiple myeloma: a workshop report
    Rafael Fonseca
    Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA
    Cancer Res 64:1546-58. 2004
    ..Areas in need of further study were identified. The study of the genetic aberrations will likely form the platform for targeted therapy for the disease...
  57. ncbi Chromosome aberrations in solid tumors
    Donna G Albertson
    Cancer Research Institute, University of California San Francisco, San Francisco, California 94143 0808, USA
    Nat Genet 34:369-76. 2003
    b>Chromosome aberrations in human solid tumors are hallmarks of gene deregulation and genome instability...
  58. pmc Progressive genetic aberrations detected by comparative genomic hybridization in squamous cell cervical cancer
    D G Allen
    Departments of Gynaecological Oncology, Pathology, Mercy Hospital for Women, East Melbourne, Victoria, 3002, Australia
    Br J Cancer 83:1659-63. 2000
    ..The study identifies progressive DNA copy number changes associated with early-stage invasive cervical cancers with and without lymph node metastases, a factor of potential prognostic and therapeutic value...
  59. ncbi High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
    D Pinkel
    Cancer Genetics Program, UCSF Cancer Center, University of California San Francisco, 94143 0808, USA
    Nat Genet 20:207-11. 1998
    ..We demonstrate its ability to measure copy number with high precision in the human genome, and to analyse clinical specimens by obtaining new information on chromosome 20 aberrations in breast cancer...
  60. ncbi A network model of a cooperative genetic landscape in brain tumors
    Markus Bredel
    Department of Neurological Surgery, Northwestern Brain Tumor Institute and Robert H Lurie Comprehensive Cancer Center, Northwestern University Feinberg School of Medicine, Chicago, IL 60611 3015, USA
    JAMA 302:261-75. 2009
    ..A persistent question concerns the biological basis for the coselection of these alterations during gliomagenesis...
  61. ncbi Genetic heterogeneity and clonal evolution underlying development of asynchronous metastasis in human breast cancer
    T Kuukasjärvi
    Department of Pathology, Tampere University Hospital, University of Tampere, Finland
    Cancer Res 57:1597-604. 1997
  62. ncbi Disruption of ATM in p53-null cells causes multiple functional abnormalities in cellular response to ionizing radiation
    N Takao
    Department of Molecular Pathology, Faculty of Medicine, Kanazawa University, Ishikawa, Japan
    Oncogene 18:7002-9. 1999
    ..These ATM deficient DT40 clones therefore provide a useful model system for analysing p53-independent ATM functions...
  63. pmc Comparison of the Agilent, ROMA/NimbleGen and Illumina platforms for classification of copy number alterations in human breast tumors
    L O Baumbusch
    Department of Genetics, Institute for Cancer Research, Norwegian Radium Hospital, Rikshospitalet University Hospital, 0310 Oslo, Norway
    BMC Genomics 9:379. 2008
    ..Various platforms, brands and underlying technologies are available, facing the user with many choices regarding platform sensitivity and number, localization, and density distribution of probes...
  64. ncbi Recurrent chromosome aberrations in cancer
    F Mitelman
    Department of Clinical Genetics, University Hospital, SE 221 85, Lund, Sweden
    Mutat Res 462:247-53. 2000
    ..Data obtained during recent years strongly suggest that corresponding breakthroughs will be achieved in solid tumors within a not-too-distant future...
  65. pmc Microarray analysis reveals a major direct role of DNA copy number alteration in the transcriptional program of human breast tumors
    Jonathan R Pollack
    Departments of Pathology, Genetics, Surgery, Health Research and Policy, and Biochemistry, and Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, CA 94305, USA
    Proc Natl Acad Sci U S A 99:12963-8. 2002
    ..These findings provide evidence that widespread DNA copy number alteration can lead directly to global deregulation of gene expression, which may contribute to the development or progression of cancer...
  66. ncbi Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray
    Justine Coppinger
    Signature Genomic Laboratories, Spokane, WA, USA
    Prenat Diagn 29:1156-66. 2009
    ..To determine the detection rates of whole-genome microarray technology compared to targeted microarray analysis for chromosome abnormalities in prenatal samples submitted for diagnostic testing...
  67. ncbi Massively parallel sequencing for chromosomal abnormality testing in trophectoderm cells of human blastocysts
    Xuyang Yin
    BGI Shenzhen, Shenzhen, China
    Biol Reprod 88:69. 2013
    ..Our study demonstrated MPS could be applied to accurately detect embryonic chromosomal abnormality with a flexible and cost-effective strategy and higher potential accuracy...
  68. pmc The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
    Amber Hogart
    Department of Medical Microbiology and Immunology, University of California, Davis, CA 95616, USA
    Neurobiol Dis 38:181-91. 2010
    ..This review provides an overview of the phenotypes of these disorders and their relationships with ASD and outlines the regional genes that may contribute to the autism susceptibility imparted by copy number variation of the region...
  69. ncbi Analysis of radiation-induced chromosomal aberrations using telomeric and centromeric PNA probes
    J J Boei
    MGC, Department of Radiation Genetics and Chemical Mutagenesis, Leiden University Medical Center, The Netherlands
    Int J Radiat Biol 76:163-7. 2000
    ..To generate dose-response curves for X-ray-induced chromosomal aberrations analysed in human blood lymphocytes using telomeric and centromeric peptide nucleic acid (PNA) probes...
  70. ncbi Review: proximity effects in the production of chromosome aberrations by ionizing radiation
    R K Sachs
    Department of Mathematics, University of California, Berkeley 94720, USA
    Int J Radiat Biol 71:1-19. 1997
    After ionizing radiation has induced double-strand DNA breaks (dsb), misrejoining produces chromosome aberrations. Aberration yields are influenced by "proximity' effects, i.e...
  71. ncbi Gene expression meta-analysis identifies chromosomal regions and candidate genes involved in breast cancer metastasis
    Mads Thomassen
    Department of Biochemistry, Pharmacology, and Genetics, Odense University Hospital and Human Microarray Centre, University of Southern Denmark, Odense, Denmark
    Breast Cancer Res Treat 113:239-49. 2009
    ..Potential metastasis promoting genes includes RECQL4 at 8q24, PRMT7 at 16q22, GINS2 at 16q24, and AURKA at 20q13...
  72. pmc Chromosomal breakage-fusion-bridge events cause genetic intratumor heterogeneity
    D Gisselsson
    Department of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden
    Proc Natl Acad Sci U S A 97:5357-62. 2000
    ..Evidence of frequent BFB events was found in malignancies that showed unspecific chromosome aberrations, including ring chromosomes, dicentric chromosomes, and telomeric associations, as well as extensive ..
  73. ncbi Telomere shortening and tumor formation by mouse cells lacking telomerase RNA
    M A Blasco
    Cold Spring Harbor Laboratory, New York 11724, USA
    Cell 91:25-34. 1997
    ..These results indicate that telomerase is essential for telomere length maintenance but is not required for establishment of cell lines, oncogenic transformation, or tumor formation in mice...
  74. ncbi Clinical implications of gene dosage and gene expression patterns in diploid breast carcinoma
    Toshima Z Parris
    Department of Oncology, Institute of Clinical Sciences, and Laboratory of Clinical Pathology and Cytology, Sahlgrenska Academy at University of Gothenburg, Gula stråket 2, Gothenburg, Sweden
    Clin Cancer Res 16:3860-74. 2010
    ..The purpose of this study was to assess the impact of gene dosage on gene expression patterns and the effect of other mechanisms on transcriptional levels, and to associate these genomic changes with clinicopathologic parameters...
  75. pmc Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: report and review
    M Akgul
    Faculty of Medicine, Department of Medical Genetics, Ege University, Izmir, Turkey
    J Assist Reprod Genet 26:119-22. 2009
    ..In this study we aimed to evaluate the postnatally screened karyotype results in couples who were referred because of primary infertility between 2000 and 2006 in Izmir...
  76. ncbi Chromothripsis and cancer: causes and consequences of chromosome shattering
    Josep V Forment
    The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge CB2 1QN, UK
    Nat Rev Cancer 12:663-70. 2012
    ..We also discuss the potential diagnostic, prognostic and therapeutic implications of chromothripsis in cancer...
  77. pmc Acquired genomic copy number aberrations and survival in chronic lymphocytic leukemia
    Peter Ouillette
    Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA
    Blood 118:3051-61. 2011
    ..0 array-based genomic lesion loads at various thresholds, we identify elevated CLL genomic complexity as an independent and powerful marker for the identification of patients with aggressive CLL and short survival...
  78. pmc Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements
    Yue Luo
    Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA
    Hum Mol Genet 20:3769-78. 2011
    ..Finally, fine-mapping the smallest subtelomeric rearrangements has narrowed the critical regions for some chromosomal disorders...
  79. ncbi Alterations of chromosomal copy number during progression of diffuse-type gastric carcinomas: metaphase- and array-based comparative genomic hybridization analyses of multiple samples from individual tumours
    Dun Fa Peng
    First Department of Pathology, Shiga University of Medical Science, Otsu, 520 2192, Japan
    J Pathol 201:439-50. 2003
  80. ncbi Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization
    Trilochan Sahoo
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Genet Med 8:719-27. 2006
    ..This study was designed to evaluate the feasibility of using a targeted array-CGH strategy for prenatal diagnosis of genomic imbalances in a clinical setting of current pregnancies...
  81. pmc Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
    Lluis Armengol
    qGenomics Laboratory, Doctor Aiguader, 88, 08003 Barcelona, Spain
    Hum Genet 131:513-23. 2012
  82. pmc Microarray comparative genomic hybridization detection of chromosomal imbalances in uterine cervix carcinoma
    Alfredo Hidalgo
    Unidad de Investigacion Medica en Enfermedades Oncologicas, Centro Medico Nacional Siglo XXI IMSS, Mexico
    BMC Cancer 5:77. 2005
    ..However, given its limited spatial resolution, chromosomal CGH has offered only general information regarding the possible genetic targets of DNA copy number changes...
  83. ncbi Array comparative genomic hybridisation on first polar bodies suggests that non-disjunction is not the predominant mechanism leading to aneuploidy in humans
    A S Gabriel
    School of Biosciences, University of Kent, Canterbury CT2 7NJ, UK
    J Med Genet 48:433-7. 2011
    ..An alternative model (precocious separation of sister chromatids) has thus been proposed, but recurring criticism of this model purports that technical issues may have led to interpretation errors...
  84. pmc Primary central nervous system lymphomas: a validation study of array-based comparative genomic hybridization in formalin-fixed paraffin-embedded tumor specimens
    Esteban Braggio
    Department of Biochemistry, Mayo Clinic, Scottsdale, Arizona, USA
    Clin Cancer Res 17:4245-53. 2011
  85. pmc Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis
    Stefan White
    Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Victoria, Australia
    PLoS ONE 6:e17793. 2011
  86. ncbi Comprehensive embryo analysis of advanced maternal age-related aneuploidies and mosaicism by short comparative genomic hybridization
    Mariona Rius
    Unitat de Biologia Cellular i Genetica Medica, Facultat de Medicina, Universitat Autonoma de Barcelona, Bellaterra, Spain
    Fertil Steril 95:413-6. 2011
    ..5% of which corresponded to chromosomes not screened by 9-chromosome FISH), structural aberrations (31.8%), and mosaicism (77.3%). The short-CGH method was subsequently applied in one PGS, achieving a twin pregnancy...
  87. pmc Construction of oncogenetic tree models reveals multiple pathways of oral cancer progression
    Swapnali Pathare
    Advanced Centre for Treatment, Research and Education in Cancer ACTREC, Cancer Research Institute CRI, Tata Memorial Centre TMC, Kharghar, Navi Mumbai, India
    Int J Cancer 124:2864-71. 2009
    ..In summary, the tree models for oral cancers provided novel information about the interactions between genetic alterations and predicted their probable order of occurrence...
  88. ncbi Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis
    Lisenka E L M Vissers
    Department of Human Genetics 855, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, PO Box 9101, Nijmegen 6500 HB, The Netherlands
    J Med Genet 47:289-97. 2010
    ..In addition, a future prospect is provided for the detection of disease causing mutations and structural variants by next generation sequencing technologies...
  89. pmc A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data
    Juan R Gonzalez
    Center for Research in Environmental Epidemiology, Doctor Aiguader 88, Barcelona 08003, Spain
    BMC Bioinformatics 12:166. 2011
  90. pmc Multiple roles for MRE11 at uncapped telomeres
    Yibin Deng
    Department of Genetics, Box 1010, The M D Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, Texas 77030, USA
    Nature 460:914-8. 2009
    ..MRE11 can also protect newly replicated leading strand telomeres from NHEJ by promoting 5' strand resection to generate POT1a-TPP1-bound 3' overhangs...
  91. ncbi Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies
    C N Lee
    Department of Obstetrics and Gynaecology, National Taiwan University Hospital, Taipei, Taiwan
    BJOG 119:614-25. 2012
    ..To evaluate the clinical value of prenatal array comparative genomic hybridisation (CGH) in screening for submicroscopic genomic imbalances...
  92. ncbi Regulation of DNA double-strand break repair pathway choice
    Meena Shrivastav
    Department of Molecular Genetics and Microbiology, University of New Mexico School of Medicine and Cancer Center, Albuquerque, NM 87131, USA
    Cell Res 18:134-47. 2008
  93. ncbi International workshop on the relationship of prior therapy to balanced chromosome aberrations in therapy-related myelodysplastic syndromes and acute leukemia: overview report
    Janet D Rowley
    Department of Medicine, University of Chicago, Chicago, Illinois, USA
    Genes Chromosomes Cancer 33:331-45. 2002
  94. ncbi Chromosomal alterations in lung adenocarcinoma from smokers and nonsmokers
    M Sanchez-Cespedes
    Department of Otolaryngology, Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, MD 21206-2198, USA
    Cancer Res 61:1309-13. 2001
    ..These observations support the notion that lung cancers in nonsmokers arise through genetic alterations distinct from the common events observed in tumors from smokers...
  95. pmc High resolution genome-wide analysis of chromosomal alterations in Burkitt's lymphoma
    Saloua Toujani
    CNRS, FRE2939, Génomique Cellulaire des Cancers, Institut Gustave Roussy IGR, Villejuif, France
    PLoS ONE 4:e7089. 2009
    ..Further investigations which combined gene expression and functional studies are essential to understand the lymphomagenesis mechanism and for the development of more effective, targeted therapeutic strategies...
  96. ncbi Chromosomal rearrangements after ex vivo Epstein-Barr virus (EBV) infection of human B cells
    S Lacoste
    Department of Physiology, Manitoba Institute of Cell Biology, University of Manitoba, Winnipeg, Manitoba, Canada R3E 0V9
    Oncogene 29:503-15. 2010
    ..In conclusion, this study suggests that DNA damage and telomere dysfunction contribute to EBV-related chromosomal instability in early LCLs...
  97. doi Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation
    R H Scott
    J Med Genet 45:106-13. 2008
  98. ncbi Chromosomal speciation revisited: rearranging theory with pieces of evidence
    Rui Faria
    Departament de Ciencies Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain
    Trends Ecol Evol 25:660-9. 2010
    ..Finally, we question some previous predictions and suggest new empirical and theoretical approaches to understanding the relevance of rearrangements in the origin of species...
  99. ncbi A unique three-dimensional model for evaluating the impact of therapy on multiple myeloma
    Julia Kirshner
    Department of Oncology, University of Alberta and Cross Cancer Institute, Edmonton, AB, Canada
    Blood 112:2935-45. 2008
    ..The 3-D culture provides a novel biologically relevant preclinical model for evaluating therapeutic vulnerabilities of all compartments of the MM clone, including presumptive drug-resistant MM stem cells...
  100. ncbi Identification and classification of chromosomal aberrations in human induced pluripotent stem cells
    Yoav Mayshar
    Department of Genetics, Silberman Institute of Life Sciences, The Hebrew University, Jerusalem 91904, Israel
    Cell Stem Cell 7:521-31. 2010
    ..The analysis indicated high incidence of chromosome 12 duplications, resulting in significant enrichment for cell cycle-related genes. Such aneuploidy may limit the differentiation capacity and increase the tumorigenicity of HiPSCs...
  101. ncbi In vivo chromosomal instability and transmissible aberrations in the progeny of haemopoietic stem cells induced by high- and low-LET radiations
    G E Watson
    Radiation and Genome Stability Unit, Medical Research Council, Harwell, UK
    Int J Radiat Biol 77:409-17. 2001
    ..There was no direct relationship between the expression of stable and unstable aberrations and significant interanimal variation in the expression of both stable and unstable aberrations...

Research Grants72

    Janet Rowley; Fiscal Year: 2004
    ..In the future, when we have sufficient understanding of the biology of these genes, we can hope to develop genotypic specific treatment. ..
  2. Genetic variation and regulatory networks: Mechanisms and complexity
    DANA PE ER; Fiscal Year: 2009
    ..These tools will be made publicly available, including a friendly graphical user interface and visualization. ..
  3. Optimization of DNA Repair by Abh8
    Lauren Endres; Fiscal Year: 2013
    ..Overall, these findings will form the basis of future studies into Abh8 regulation during the DDR. ..
  4. Effects of Testosterone and Genetic Factors on Psychological and Motor Function i
    NICOLE RENEE TARTAGLIA; Fiscal Year: 2013
  5. Analysis of the role of the VRK1 protein kinase in mammalian fertility
    Paula Traktman; Fiscal Year: 2011
    ..Understanding how the signaling pathways mediated by VRK1 affect spermatogenesis and oogenesis will deepen our understanding of the causes of human infertility and elucidate new targets for male contraception. ..
  6. Molecular Pathogenesis of MDS and CMML
    Jaroslaw P Maciejewski; Fiscal Year: 2013
    ..We will precisely map these lesions, identifying genes that may play a role in the disease and potentially act as targets of therapy. ..
  7. Parental age at birth and risk of adult-onset cancer in female offspring
    Yani Lu; Fiscal Year: 2013
    ..The long-term goal of the research is to explore biomarkers that link parental age and cancer risk to clarify etiology, and thus provide potential targets for prevention. ..
  8. Herpesvirus-induced telomerase dysregulation and tumor formation
    Keith William Jarosinski; Fiscal Year: 2011
    ..Mutant MDV lacking telomeric repeats will be generated and their ability for integration and induction chromosome aberrations will be analyzed by using fluorescent in situ hybridization using MDV probes and chicken chromosome paints...
    Vincent W Yang; Fiscal Year: 2013
    ..Lastly, ablation of KLF4 results in genetic instability including centrosome amplification, chromosome aberrations and aneuploidy...
  10. Characterization of Genetic Abnormalities in MDS and Their Clinical Impact
    Rafael Bejar; Fiscal Year: 2013
    ..Successful completion the specific aims and career development plan outlined in this proposal will allow the candidate to advance his academic career as an independent investigator in the field of hematology. ..
  11. Mechanisms of arsenic-induced chromosomal instability and carcinogenesis
    Wei Dai; Fiscal Year: 2013
    ..We anticipate that this line of research will lead to the identification of key molecular targets for cancer intervention, as well as for ameliorating the detrimental effects of arsenic compounds. ..
  12. Genome instability in leukemia stem cell
    Tomasz Skorski; Fiscal Year: 2010
    ..These studies will break ground toward new directions in studying LSCs in CML and other leukemias, and in testing of novel therapeutic strategies. ..
  13. Molecular Basis of Nuchal Edema
    Young Kwon Hong; Fiscal Year: 2013
    ..In this proposal, we provide our evidences that causatively link NE with dysregulated Notch signaling and propose to further dissect the molecular mechanism for NE. ..
  14. Training/Research Center-Bone Marrow Failure Syndromes
    Jaroslaw P Maciejewski; Fiscal Year: 2013
    ..We will precisely map these lesions, identifying genes that may play a role in the disease and potentially act as targets of therapy;these studies will form the basis for the training program proposed. ..
  15. Environmental Endocrine Disruptors and Human Sperm Chromosomal Abnormalities
    Melissa Perry; Fiscal Year: 2012
    ..This study investigates whether chemicals common in our daily environment can affect male fertility and potential risks for birth defects. ..
  16. Molecular elucidation of the CBM complex in NF-kappaB activation by antigen recep
    Hao Wu; Fiscal Year: 2013
    ..These translocations likely activate NF-kB through MALT1 and Bcl10 overexpression. Collectively, these studies suggest that the CBM complex is an attractive therapeutic target neoplastic disorders of the lymphocytes. ..
  17. Study DNA repair in preventing MDS and AML after radiation and benzene exposure
    EDWARD PAUL HASTY; Fiscal Year: 2013 Thus, results from this proposal will elucidate the pathobiology of MDS/AML. ..
  18. Novel histone biotinylation sites and relationships to other epigenetic marks
    JANOS contact ZEMPLENI; Fiscal Year: 2010
    ..Previous studies suggest that biotinylation of histones plays a critical role in the repression of retrotransposons, thereby decreasing the incidence of retrotranspositions, chromosomal abnormalities, and probably cancer risk. ..
  19. Genetic Instability &Risk for Esophageal Carcinoma
    Xifeng Wu; Fiscal Year: 2012
    ..The ability to rapidly screen individuals for risk, using minimally invasive procedures (blood samples), has immense clinical implication, such as intensive screening and chemopreventive interventions. ..
  20. Ethnic Differences in Survival after Childhood ALL
    Smita Bhatia; Fiscal Year: 2009
    ..abstract_text> ..
  21. Genetics of Meiosis and Recombination in Mice
    John C Schimenti; Fiscal Year: 2013
    ..Errors in meiosis can lad to aneuploidy, chromosome aberrations, or gene mutations...
  22. Telomeres and lung cancer incidence and survival
    Jennifer Anne Doherty; Fiscal Year: 2013
  23. Identification of Novel Genes for Congenital Diaphragmatic Hernia
    Wendy K Chung; Fiscal Year: 2012
    ..We believe this information will improve genetic diagnostic methods and provide more accurate clinical prognostic information for patients and families with CDH. ..
  24. Pre-B cell receptor signaling in acute lymphoblastic leukemia
    MARKUS MUSCHEN; Fiscal Year: 2013
    ..abstract_text> ..
  25. Comparative Analysis of DNA Break Repair in Short- and Long-Lived Rodent Species
    Vera Gorbunova; Fiscal Year: 2012
    ..The information obtained in this study will help to develop strategies to prevent cancer and extend lifespan in humans. ..
  26. Role of poly (ADP-ribose)in the Repair of Ultraviolet Induced DNA Damage
    BRENEE SHEMEIR KING; Fiscal Year: 2012
    ..If such lesions are not properly repaired they can lead to damaged DNA, mutations and chromosome aberrations. More specifically, the formation and possible retention of UV-induced lesions due to problems in repair ..
  27. Pathway Choice of DNA Double-Strand Break Repair
    David J Chen; Fiscal Year: 2013
    ..Taken together, these underlie the importance of understanding the coordination and function of DSB repair and insights into repair mechanisms will ultimately translate into clinical targets and benefits. ..
  28. Organization and Regulation of Eukaryotic Centromeres
    BETH SULLIVAN; Fiscal Year: 2009
    ..We propose to investigate the roles of genomic structure and chromatin organization and dynamics in assembly and regulation of CENP-A chromatin, centromeric domains, and metaphase kinetochore structure. ..
  29. Genetic and Epigenetic Biomarkers for SCC of the Lung
    Steven A Belinsky; Fiscal Year: 2012
    ..The effect of reduced gene expression will be assessed by quantifying chromosome aberrations formed following exposure to carcinogens that induce either single- (BPDE1) or double-strand breaks (..
  30. Arsenic Induced Miotic Arrest Associated Apoptosis
    J Christopher States; Fiscal Year: 2009
  31. Predictors of Progression from Barrett's Esophagus to esophageal adenocarcinoma
    Brian J Reid; Fiscal Year: 2010
  32. Studies of Lymphoma Suppression and DNA Repair
    Chunying Du; Fiscal Year: 2013
    ..These results are expected to lay the groundwork for developing novel agents capable of modulating the level and/or the activity of BRUCE for innovative intervention of lymphoma other related diseases resulting from faulty DNA repair. ..
  33. Pathophysiology and Treatment of Fanconi's Anemia
    Markus Grompe; Fiscal Year: 2013
    ..abstract_text> ..
  34. Parental exposure to ionizing radiation and birth defects
    DOROTHY KIM WALLER; Fiscal Year: 2013
    ..It will also determine whether women and men who are exposed to radiation in their workplace have an increased risk of having infants with 30 different categories of birth defects. ..
  35. Naphthalene exposure, chromosomal aberrations in poor urban school children.
    Manuela A Orjuela; Fiscal Year: 2012
    ..This study aims to increase understanding of childhood exposure to an understudied indoor air pollutant. ..
  36. Radiation Bystander Effects: Mechanisms
    Tom K Hei; Fiscal Year: 2013
    ..abstract_text> ..
  37. Functional and Clinical Analysis of Rak in Breast Cancer Suppression
    Shiaw Yih Lin; Fiscal Year: 2011
    ..abstract_text> ..
  38. Genomic Complexity and Clinical Outcome in Chronic Lymphocytic Leukemia
    SAMI NIMER MALEK; Fiscal Year: 2013
    ..abstract_text> ..
    Gerald R Smith; Fiscal Year: 2013
    ..Thus, the basic research proposed here will add to the foundations for understanding, diagnosing, preventing, and curing human disease. ..
  40. Exploring arsenic and its metabolites in a transgenic model
    Iain L Cartwright; Fiscal Year: 2010
  41. Biomarkers of Formaldehyde Exposure and Toxicity
    Luoping Zhang; Fiscal Year: 2010
    ..The data produced from these studies will be useful to public health agencies in their evaluation of the leukemia risk presented by formaldehyde. ..
  42. Repair of DNA breaks in humans: the role of Rad54 protein
    Alexander V Mazin; Fiscal Year: 2013
    ..hRad54 protein physically interacts with Mus81/Eme1, a structure- specific endonuclease, which cleaves HJs. Here we will determine the effect of this interaction on the resolution of HJ by Mus81/Eme1 (Aim 4). ..
  43. Roles of the RecQ Helicases BLM and RECQ5 in Genome Maintenance
    Patrick Sung; Fiscal Year: 2013
    ..proteins thus lead to impaired initiation of homologous repair, frequent sister chromatid exchanges, and chromosome aberrations. Even though RECQ5 has not yet been associated with a human disease, its ablation in mice results in ..
  44. Novel Mechanisms by which RAD18 and POLZ affect Response to Anticancer Agents
  45. Origin of CD5+ B cell Lymphoma/Leukemia in Mice
    Kyoko Hayakawa; Fiscal Year: 2013
    ..This system allows a detailed investigation of lymphoma developmental potential in tissues from early to late stage leukemogenesis, a study not possible in humans. ..
  46. Regulation of the DNA damage Response
    Karlene A Cimprich; Fiscal Year: 2013
    ..Both HLTF and SHPRH have been found to be altered in numerous cancers, hence these studies are highly relevant to cancer and other diseases that are modified by genetic mutations. ..
  47. Altered cellular bioenergetics influences NKT cell mediated responses to Lymphoma
    Tonya J Webb; Fiscal Year: 2012
    ..Collectively, this work will uniquely advance our understanding of the immune response during lymphoma progression and may lead to new therapeutic strategies. ..
    Matthew J Walter; Fiscal Year: 2013
    ..We will identify and study candidate cooperating genes using mouse models. ..
  49. "BCR/ABL-PI-3k-ROS pathway induce genomic instability ...."
    Tomasz Skorski; Fiscal Year: 2013
    ..If successfully accomplished, these experiments will determine if PI-3k pathway inhibitors should be used to improve therapeutic effect of IM and prevent/delay CML progression toward lethal blast crisis. ..
  50. The role of fusion protein, OTT-MKL1, in acute megakaryoblastic leukemia
    Yeun Hee Kim; Fiscal Year: 2012
    ..My project aims to determine molecular mechanisms responsible for the fusion protein to induce acute megakaryoblastic leukemia. ) ..
    Hazel L Sive; Fiscal Year: 2010
    ..Acquisition of the LSM710 will allow researchers to address these important biomedical issues, and the outcomes of this research will include new diagnostics and therapeutics, in accord with the mission of the NIH. ..
  52. Role of NF-kB in hematopoietic stem cells and leukemia-initiating cell formation
    Christopher A Klug; Fiscal Year: 2013
    ..This proposal will examine the role of NF-?B in normal hematopoietic stem/progenitor cell function and test whether activation of NF-?B is sufficient to initiate and/or maintain LIC activity in AML. ..
  53. Autism Genetics, Phase II: Increasing Representation of Human Diversity
    Matthew W State; Fiscal Year: 2013
    ..As has been our practice, our Network will make all phenotypic and genotype data accessible via the internet on a rolling basis, further enhancing the value of this resource to the community. ..
  54. Genetic Studies of Uterine Leiomyomata
    CYNTHIA CASSON MORTON; Fiscal Year: 2013
    ..Consistent chromosome aberrations have been observed in fibroids indicating the location of genes involved in these tumors...
  55. Prenatal Exposures & Procarcinogenic Mutations
    Manuela Orjuela; Fiscal Year: 2007
    ..In a pilot study, we have examined the frequency and range of chromosome aberrations in cord blood in a small subset of the CCCEH population using fluorescence in situ hybridization (FISH) ..
  56. Role of 11q23 Chromosome Abnormalities in the Causation of Acute Leukemia
    Carlo M Croce; Fiscal Year: 2013
    ..abstract_text> ..
    Nelson Fausto; Fiscal Year: 2010
    ..The proposed experiments will increase our understanding of the mechanisms of hepatocellular carcinogenesis, and test therapeutic strategies that might be applied to human tumors. ..
  58. Dosage compensation of a novel X chromosome
    ..This is relevant to general studies of chromosome function, including studies of disease-causing chromosome abnormalities. ..
  59. The Genomic and Functional Consequences of Trophoblast Aneuploidy
    Y KATHERINE BIANCO; Fiscal Year: 2013
    ..The plan includes a first rate mentoring team, an outstanding institutional environment, as well as the full and enthusiastic support of her Department Chair, Division Chief, and primary mentor. ..
  60. Centers for Medical Countermeasures Against Radiation
    Nelson J Chao; Fiscal Year: 2013
  61. A Testis Specific Regulatory Subunit of Protein Phosphatase-1
    Ann O Sperry; Fiscal Year: 2010
    ..This research will examine the importance of a testis-specific regulatory protein in spermatogenesis and will provide insight into possible remedies for male infertility as well as possible strategies for contraceptive design. ..
    Terry J Hassold; Fiscal Year: 2013
    ..abstract_text> ..
  63. DNA Double Strand Break Chromatin Alterations and Genome Integrity
    Roger A Greenberg; Fiscal Year: 2013
  64. Role of ATR in Cell Cycle Checkpoints
    William G Dunphy; Fiscal Year: 2012
    ..Therefore, a thorough knowledge of checkpoint mechanisms is essential for understanding the root causes of cancer. ..
    Joel Bedford; Fiscal Year: 1993
    ..The goals and aims of this project are important for the scientific underpinning of cancer radiotherapy and for a fuller appreciation of genetic and oncogenic hazards of low level ionizing radiation exposure. ..
    Philip Hanawalt; Fiscal Year: 2000
    ..In addition, our studies should help to interpret the role of DNA damage and DNA turnover in biological end points such as survival, mutagenesis, and carcinogenesis. ..
    ANDREW WYROBEK; Fiscal Year: 2000
  68. Alteration of Rb in HTLV-1 transformed cells
    Fatah Kashanchi; Fiscal Year: 2005
    ..abstract_text> ..
    David Ledbetter; Fiscal Year: 2002
    ..Development of rapid and precise breakpoint specific assays and methylation assays may facilitate patient analysis and clinical diagnosis. ..
  70. Modulating the tumor micro-environment in CLL using flavopiridol and lenalidomide
    Kristie Blum; Fiscal Year: 2009
  71. Control of Genomic Stability by Emi1 and Securin
    NORMAN LEHMAN; Fiscal Year: 2007
    ..abstract_text> ..
    Manuel Buchwald; Fiscal Year: 1999
    ..and clastogenic agents, for example, mitomycin C (MMC) and diepoxybutane (DEB) and FA cells exhibit chromosome aberrations. The long-term objectives of this research is to elucidate the biological basis of FA in order to gain ..