A R Brothman

Summary

Affiliation: University of Utah
Country: USA

Publications

  1. doi request reprint College of American Pathologists/American College of Medical Genetics proficiency testing for constitutional cytogenomic microarray analysis
    Arthur R Brothman
    Department of Pediatrics and Pathology and ARUP Laboratories, University of Utah School of Medicine, Salt Lake City, Utah, USA
    Genet Med 13:765-9. 2011
  2. ncbi request reprint Cytogenetic heteromorphisms: survey results and reporting practices of giemsa-band regions that we have pondered for years
    Arthur R Brothman
    Department of Pediatrics and Human Genetics, University of Utah School of Medicine, Salt Lake City, USA
    Arch Pathol Lab Med 130:947-9. 2006
  3. doi request reprint Nomenclature evolution: Changes in the ISCN from the 2005 to the 2009 edition
    A R Brothman
    Departments of Pediatrics, Human Genetics and Pathology and ARUP Institute for Clinical and Experimental Pathology, University of Utah School of Medicine, Salt Lake City, USA
    Cytogenet Genome Res 127:1-4. 2009
  4. ncbi request reprint Cytogenetics and molecular genetics of cancer of the prostate
    Arthur R Brothman
    University of Utah, School of Medicine, Salt Lake City 84132, USA
    Am J Med Genet 115:150-6. 2002
  5. ncbi request reprint Chromosomal clues to the development of prostate tumors
    A R Brothman
    Department of Pediatrics, University of Utah School of Medicine, Salt Lake City 84132, USA
    Prostate 38:303-12. 1999
  6. ncbi request reprint Global hypomethylation is common in prostate cancer cells: a quantitative predictor for clinical outcome?
    Arthur R Brothman
    Department of Pediatrics, University of Utah School of Medicine, 1C210 SOM, 30 North 1900 East, Salt Lake City, UT 84132 2117, USA
    Cancer Genet Cytogenet 156:31-6. 2005
  7. ncbi request reprint Hypermethylation of the caveolin-1 gene promoter in prostate cancer
    J Cui
    Department of Pediatrics and Human Genetics, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
    Prostate 46:249-56. 2001
  8. pmc Evidence by spectral karyotyping that 8q11.2 is nonrandomly involved in lipoblastoma
    Z Chen
    Cytogenetics Laboratory, University of Utah School of Medicine, Salt Lake City 84132, USA
    J Mol Diagn 2:73-7. 2000
  9. ncbi request reprint Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association
    Cammon B Arrington
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 133:326-30. 2005
  10. ncbi request reprint Cytogenetic-clinicopathologic correlations in rhabdomyosarcoma: a report of five cases
    Z Chen
    Cytogenetics Laboratory, Room 1C210 SOM, Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    Cancer Genet Cytogenet 131:31-6. 2001

Collaborators

Detail Information

Publications44

  1. doi request reprint College of American Pathologists/American College of Medical Genetics proficiency testing for constitutional cytogenomic microarray analysis
    Arthur R Brothman
    Department of Pediatrics and Pathology and ARUP Laboratories, University of Utah School of Medicine, Salt Lake City, Utah, USA
    Genet Med 13:765-9. 2011
    ....
  2. ncbi request reprint Cytogenetic heteromorphisms: survey results and reporting practices of giemsa-band regions that we have pondered for years
    Arthur R Brothman
    Department of Pediatrics and Human Genetics, University of Utah School of Medicine, Salt Lake City, USA
    Arch Pathol Lab Med 130:947-9. 2006
    ..Cytogenetic heteromorphisms (normal variants) pose diagnostic dilemmas. Common Giemsa-band heteromorphisms are not described in the literature, although Giemsa-banding is the method most frequently used in cytogenetic laboratories...
  3. doi request reprint Nomenclature evolution: Changes in the ISCN from the 2005 to the 2009 edition
    A R Brothman
    Departments of Pediatrics, Human Genetics and Pathology and ARUP Institute for Clinical and Experimental Pathology, University of Utah School of Medicine, Salt Lake City, USA
    Cytogenet Genome Res 127:1-4. 2009
    ..These highlights are meant as a guide for the cytogeneticist to assist in the transition in the use of this updated nomenclature for describing cytogenetic and molecular cytogenetic findings in both clinical and research reports...
  4. ncbi request reprint Cytogenetics and molecular genetics of cancer of the prostate
    Arthur R Brothman
    University of Utah, School of Medicine, Salt Lake City 84132, USA
    Am J Med Genet 115:150-6. 2002
    ....
  5. ncbi request reprint Chromosomal clues to the development of prostate tumors
    A R Brothman
    Department of Pediatrics, University of Utah School of Medicine, Salt Lake City 84132, USA
    Prostate 38:303-12. 1999
    ..Cytogenetic, molecular cytogenetic, and molecular studies of prostate cancer have revealed an enormous amount of data regarding chromosomal loci that are aberrant in prostate tumors...
  6. ncbi request reprint Global hypomethylation is common in prostate cancer cells: a quantitative predictor for clinical outcome?
    Arthur R Brothman
    Department of Pediatrics, University of Utah School of Medicine, 1C210 SOM, 30 North 1900 East, Salt Lake City, UT 84132 2117, USA
    Cancer Genet Cytogenet 156:31-6. 2005
    ..These data suggest that loss of methylation is a feature of prostate cancer, and partial gain of methylation (presumably at promoters of specific genes) is associated with clinical outcome and is measurable using whole-cell assays...
  7. ncbi request reprint Hypermethylation of the caveolin-1 gene promoter in prostate cancer
    J Cui
    Department of Pediatrics and Human Genetics, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
    Prostate 46:249-56. 2001
    ..1, a site known to be deleted in some prostate tumors. We chose to examine the methylation status of the promoter region of Cav-1 to determine whether this gene could function as a tumor suppressor in prostate cancer..
  8. pmc Evidence by spectral karyotyping that 8q11.2 is nonrandomly involved in lipoblastoma
    Z Chen
    Cytogenetics Laboratory, University of Utah School of Medicine, Salt Lake City 84132, USA
    J Mol Diagn 2:73-7. 2000
    ..2...
  9. ncbi request reprint Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association
    Cammon B Arrington
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 133:326-30. 2005
    ..Within the deleted region, there are approximately 150 expressed genes, one or more of which may contribute to the manifestations of CHARGE association...
  10. ncbi request reprint Cytogenetic-clinicopathologic correlations in rhabdomyosarcoma: a report of five cases
    Z Chen
    Cytogenetics Laboratory, Room 1C210 SOM, Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    Cancer Genet Cytogenet 131:31-6. 2001
    ..Finally, these cases provide cogent evidence for the diagnostic and prognostic significance of the pathologic-genetic classification of RMS...
  11. doi request reprint Clinical laboratory implementation of cytogenomic microarrays
    S T South
    Department of Pediatrics, ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, University of Utah School of Medicine, Salt Lake City, Utah, USA
    Cytogenet Genome Res 135:203-11. 2011
    ..This review will outline some of the changes addressed in the field over the last several years and briefly discuss some of the trends in data processing, analysis and interpretation...
  12. ncbi request reprint Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations
    Sarah T South
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA
    Eur J Hum Genet 16:45-52. 2008
    ..Analysis of clinical manifestations of each patient also revealed that patients with an unbalanced translocation often presented with exceptions to some expected phenotypes...
  13. pmc Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 143:1053-9. 2007
    ..Based on the agreement of our findings with one previous case of mandibulofacial dysostosis with a 2q31.1 transocation, we hypothesize that misexpression of genes in the HOXD gene cluster produced the described phenotype in this patient...
  14. ncbi request reprint A new genomic mechanism leading to cri-du-chat syndrome
    Sarah T South
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA
    Am J Med Genet A 140:2714-20. 2006
    ..This illustrates a new genomic mechanism of chromosome rearrangement leading to cri-du-chat syndrome and should provide significant information for the medical management of patients with other terminal deletion syndromes...
  15. ncbi request reprint Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 130:88-91. 2004
    ..Our patient and the previously reported cases support a discrete recognizable phenotype for paternal UPD for chromosome 14...
  16. ncbi request reprint 6q subtelomeric deletion: is there a recognizable syndrome?
    David A Stevenson
    Department of Pediatrics, Divisions of Medical Genetic and Neurology, University of Utah, Salt Lake City, Utah, USA
    Clin Dysmorphol 13:103-6. 2004
    ..Subtelomeric FISH probes were useful in establishing a diagnosis in our patient. As more cases are reported, we may be able to establish discrete phenotypes and natural histories that can aid in counselling families...
  17. pmc A practical approach to the detection of prognostically significant genomic aberrations in multiple myeloma
    Zhong Chen
    Cytogenetics Laboratory, Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    J Mol Diagn 7:560-5. 2005
    ..Therefore, our cell-targeting approach and FISH panel reliably detect prognostically important genomic abnormalities in MM and are potentially suitable for widespread use...
  18. doi request reprint Array comparative genomic hybridization for genetic evaluation of fetal loss between 10 and 20 weeks of gestation
    Jennifer E Warren
    Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah, USA
    Obstet Gynecol 114:1093-102. 2009
    ..To estimate genomic copy number changes in fetal loss between 10 and 20 weeks of gestation using array comparative genomic hybridization...
  19. doi request reprint Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype
    Sarah T South
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
    Am J Med Genet A 146:2691-7. 2008
    ....
  20. doi request reprint Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform
    E Aston
    University of Utah CGH Microarray Laboratory, Department of Pediatrics, Salt Lake City, UT 84132, USA
    J Med Genet 45:268-74. 2008
    ..Results for 1076 patients (1598 chips) are presented...
  21. ncbi request reprint Variegated aneuploidy in two siblings: phenotype, genotype, CENP-E analysis, and literature review
    W L Flejter
    Department of Pediatrics, University of Utah, Salt Lake City 84132, USA
    Am J Med Genet 75:45-51. 1998
    ..Together, these studies support the notion that a recessive mitotic mutant may be responsible for the chromosomal mosaicism and for the resulting clinical phenotype...
  22. ncbi request reprint Assignment of human protein phosphatase 2A regulatory subunit genes b56alpha, b56beta, b56gamma, b56delta, and b56epsilon (PPP2R5A-PPP2R5E), highly expressed in muscle and brain, to chromosome regions 1q41, 11q12, 3p21, 6p21.1, and 7p11.2 --> p12
    B McCright
    Division of Molecular Biology and Genetics, University of Utah School of Medicine, Salt Lake City, Utah, 84112, USA
    Genomics 36:168-70. 1996
    ..1, and 7p11.2 --> p12, respectively...
  23. ncbi request reprint Assignment of human xanthine dehydrogenase gene to chromosome 2p22
    P Xu
    Division of Pulmonary, Critical Care, University of Utah, Salt Lake City 84132
    Genomics 23:289-91. 1994
    ..The results should be useful for further studies of the molecular basis for hereditary xanthinuria and other genetic disorders related to abnormal XDH activity...
  24. ncbi request reprint Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation
    Annika M Svensson
    Cytogenetics Laboratory, Department of Pediatrics, University of Utah, Salt Lake City, UT 84132 2117, USA
    Am J Med Genet A 143:1348-53. 2007
    ..The malformations in our patient may be caused by deletion of a regulatory element far upstream of the HOXD cluster...
  25. doi request reprint How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay
    Jennifer Saam
    University of Utah Genetic Counseling Program, Department of Human Genetics, Salt Lake City, Utah, USA
    Genet Med 10:181-6. 2008
    ..This pilot study evaluated how positive test results were used to influence patient management...
  26. ncbi request reprint Multiple abnormalities detected by dye reversal genomic microarrays in prostate cancer: a much greater sensitivity than conventional cytogenetics
    Joseph A Pettus
    Department of Human Genetics, University of Utah School of Medicine, 1C210 SOM, 30 North 1900 East, Salt Lake City, UT 84132 2117, USA
    Cancer Genet Cytogenet 154:110-8. 2004
    ..We propose this technology for the evaluation of prostate and other heterogeneous cancers as a rapid and efficient way to detect genetic copy number changes...
  27. ncbi request reprint 4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype
    David A Stevenson
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA
    J Pediatr 145:840-2. 2004
    ..Terminal 4p deletions cause Wolf-Hirschhorn syndrome, but the phenotype probably was modified by the paternally derived 11p duplication. This emphasizes the clinical utility of genomic microarray...
  28. ncbi request reprint An apoptosis signaling pathway induced by the death domain of FADD selectively kills normal but not cancerous prostate epithelial cells
    M J Morgan
    Huntsman Cancer Institute, Department of Oncological Sciences, University of Utah, Salt Lake City, UT 84112, USA
    Cell Death Differ 8:696-705. 2001
    ..Therefore, the death domain of FADD has a previously unrecognized role in cell survival that is epithelial-specific and defective in cancer cells. This FADD-dependent signaling pathway may be important in prostate carcinogenesis...
  29. pmc Benign copy number changes in clinical cytogenetic diagnostics by array CGH
    H Whitby
    University of Utah CGH Microarray Laboratory, Department of Pediatrics, Salt Lake City, UT, USA
    Cytogenet Genome Res 123:94-101. 2008
    ..tcag.ca/variation/). The availability of these data should assist other clinical laboratories in the evaluation of CNVs of unknown clinical significance...
  30. ncbi request reprint Mutation of the MXI1 gene in prostate cancer
    L R Eagle
    Department of Pediatrics, Children s Hospital of Pittsburgh, Pennsylvania 15213, USA
    Nat Genet 9:249-55. 1995
    ..MXI1 thus displays allelic loss and mutation in some cases of prostate cancer that may contribute to the pathogenesis or neoplastic evolution of this common malignancy...
  31. ncbi request reprint Methylation in gene promoters: assessment after laser capture microdissection
    Arthur R Brothman
    Departments of Pediatrics and Human Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
    Methods Enzymol 356:343-51. 2002
  32. doi request reprint Genomic medicine in prenatal diagnosis
    Sarah T South
    Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
    Clin Obstet Gynecol 51:62-73. 2008
    ....
  33. ncbi request reprint An inv(16) in Ph-negative cells of a chronic myelogenous leukemia patient after imatinib treatment
    Leslie R Rowe
    Institute for Clinical and Experimental Pathology, Associated Regional and University Pathologists ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108 1221, USA
    Cancer Genet Cytogenet 174:54-6. 2007
    ..We report here a novel case of a pericentric inversion of chromosome 16 as the sole cytogenetic abnormality in Ph- cells after treatment of Ph+ CML with imatinib...
  34. ncbi request reprint Her-2/neu expression in osteosarcoma increases risk of lung metastasis and can be associated with gene amplification
    Holly Zhou
    Department of Pathology, University of Utah, Salt Lake City, UT, USA
    J Pediatr Hematol Oncol 25:27-32. 2003
    ..Whether Her-2/neu expression influences outcome needs to be examined further in a prospective fashion. The hope is that Her-2/neu expression will identify patients who may benefit from the addition of directed biologic therapy...
  35. ncbi request reprint A biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A--> C is a mutation
    Jessica C Keaton
    Technology Development, Myraid Genetic Laboratories, Salt Lake City, UT 84108, USA
    J Hum Genet 48:399-403. 2003
    ..This transversion disrupts a highly conserved base in the consensus splice acceptor motif. These results support the conclusion that BRCA1 IVS10-2A-->C is a mutation that confers predisposition to breast and ovarian cancer...
  36. doi request reprint Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?
    Cynthia J Curry
    Genetic Medicine Central California, USA
    Am J Med Genet A 146:1903-10. 2008
    ..Such homozygous deletions should be viewed as potentially clinically relevant...
  37. ncbi request reprint Proficiency testing for laboratories performing fluorescence in situ hybridization with chromosome-specific DNA probes
    James T Mascarello
    Genetic Services, Children s Hospital, San Diego, Calif 92123, USA
    Arch Pathol Lab Med 126:1458-62. 2002
    ....
  38. ncbi request reprint Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
    Charles Lee
    Department of Pathology, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    Nat Genet 39:S48-54. 2007
    ..Ironically, the accumulation and annotation of such array CGH data can lead to the rapid identification of pathogenic CNVs and the definition of new genomic syndromes that, in turn, are useful for accurate clinical genetic diagnoses...
  39. ncbi request reprint Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH
    Rebecca R Selzer
    NimbleGen Systems Inc, Madison, WI 53711, USA
    Genes Chromosomes Cancer 44:305-19. 2005
    ..Supplementary material for this article can be found on the Genes, Chromosomes, and Cancer website at http://www.interscience.wiley.com/jpages/1045-2257/suppmat/index.html...
  40. ncbi request reprint Unexpected cytogenetic finding in acute lymphoblastic leukemia: a case of del(5q) with a cryptic t(12;21)
    Sarah T South
    Cancer Genet Cytogenet 168:177-8. 2006
  41. ncbi request reprint Section E6 of the ACMG technical standards and guidelines: chromosome studies for acquired abnormalities
    Betsy Hirsh
    ACMG Laboratory Quality Assurance Cytogenetic Subcommittee, USA
    Genet Med 7:509-13. 2005
  42. ncbi request reprint Problems with ISCN FISH Nomenclature make it not practical for use in clinical test reports or cytogenetic databases [corrected]
    James T Mascarello
    Genzyme Genetics, Santa Fe, New Mexico 87505, USA
    Genet Med 5:370-7. 2003
    ..To assess the extent and the sources of variation in ISCN nomenclature used by participants in CAP/ACMG surveys dealing with fluorescence in situ hybridization (FISH)...
  43. ncbi request reprint Prostate cancer risk and IRS1, IRS2, IGF1, and INS polymorphisms: strong association of IRS1 G972R variant and cancer risk
    Susan L Neuhausen
    Department of Medicine, Division of Epidemiology, University of California Irvine, Irvine, CA 92697 7550, USA
    Prostate 64:168-74. 2005
    ..We hypothesized that functional polymorphisms in INS, IRS1, IRS2, and IGF1 may be associated with prostate cancer...
  44. ncbi request reprint Microarray analysis for constitutional cytogenetic abnormalities
    Lisa G Shaffer
    Signature Genomic Laboratories, Spokane, Washington, USA
    Genet Med 9:654-62. 2007