Research Topics
Genomes and Genes | Norma NowakSummaryAffiliation: Roswell Park Cancer Institute Country: USA Publications
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Publications
Double minute chromosomes in acute myeloid leukemia and myelodysplastic syndrome: identification of new amplification regions by fluorescence in situ hybridization and spectral karyotypingSheila N J Sait
Clinical Cytogenetics Laboratory, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
Genes Chromosomes Cancer 34:42-7. 2002..dmin originating from chromosome 19 have not been reported previously in hematologic malignancies...
Gene-resolution analysis of DNA copy number variation using oligonucleotide expression microarraysHerbert Auer
Center for Childhood Cancer, Columbus Children s Research Institute and The Ohio State University, Columbus, Ohio, USA
BMC Genomics 8:111. 2007..Current aCGH methods have limited resolution, sensitivity and reproducibility. Microarrays for aCGH are available only for a few organisms and combination of aCGH data with expression data is cumbersome...- Genome-wide aberrations in pancreatic adenocarcinomaNorma J Nowak
Cancer Genetics, Roswell Park Cancer Institute, State University of New York at Buffalo, Elm and Carlton Streets, Buffalo, NY 14263, USA
Cancer Genet Cytogenet 161:36-50. 2005..These findings should greatly facilitate further research in understanding the pathogenesis of this lethal disease, and could lead to the identification of novel therapeutic targets and biomarkers for early detection... - Challenges in array comparative genomic hybridization for the analysis of cancer samplesNorma J Nowak
New York State Center of Excellence in Bioinformatics and Life Sciences and Department of Biochemistry, University at Buffalo, Buffalo, New York 14203, USA
Genet Med 9:585-95. 2007.... - High-resolution analysis of genetic events in cancer cells using bacterial artificial chromosome arrays and comparative genome hybridizationJohn K Cowell
Roswell Park Cancer Institute, Department of Cancer Genetics, Elm and Carlton Streets, Buffalo, New York 14263, USA
Adv Cancer Res 90:91-125. 2003..Importantly, subtle genetic changes that occur consistently in tumor cell types may eventually be used to stratify patients for clinical trials and to predict their response to custom therapies... 
Array-comparative genomic hybridization analysis of primary endometrial and ovarian high-grade neuroendocrine carcinoma associated with adenocarcinoma: mystery resolved?Paulette Mhawech-Fauceglia
Department of Pathology, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
Int J Gynecol Pathol 27:539-46. 2008..Because of the limited cases analyzed, a larger study is still needed to confirm our observation...- Identification of consistent novel submegabase deletions in low-grade oligodendrogliomas using array-based comparative genomic hybridizationMichael R Rossi
Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, New York, USA
Genes Chromosomes Cancer 44:85-96. 2005..These regions of the genome define small numbers of candidate genes that are within the deletions. The aCGH analysis also defined the spectrum of gain and loss of genomic regions in low-grade oligodendrogliomas... - A comparative analysis of two tissue procurement approaches for the genomic profiling of clinical colorectal cancer samplesWilfrido D Mojica
Department of Pathology, University at Buffalo, The State University of New York, 100 High Street, Buffalo, NY 14203, USA
Int J Colorectal Dis 23:1089-98. 2008..Therefore, transforming personalized medicine from concept to reality may require an alternative approach in the field of tissue specimen procurement... - Genomic organization and expression profile of the human and mouse WAVE gene familyKhalid Sossey-Alaoui
Department of Cancer Genetics, Roswell Park Cancer Institute, 110 C and V Building, Elm and Carlton Streets, Buffalo, New York 14263, USA
Mamm Genome 14:314-22. 2003..It also provides the first steps towards the development of mouse models for the role of the WAVE genes in actin and cytoskeleton organization in general, and in the development of neuroblastoma in particular... - Application of bacterial artificial chromosome array-based comparative genomic hybridization and spectral karyotyping to the analysis of glioblastoma multiformeJohn K Cowell
Department of Cancer Genetics, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263 USA
Cancer Genet Cytogenet 151:36-51. 2004..CGHa far surpasses the resolution and information provided by conventional metaphase CGH, without relying on in vitro culture of tumors for metaphase spreads... - Genomic profiling of myeloid sarcoma by array comparative genomic hybridizationGeorge Deeb
Department of Pathology and Laboratory Medicine, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
Genes Chromosomes Cancer 44:373-83. 2005..These results demonstrate that array-CGH is a powerful tool to screen MS tissue for unbalanced genomic abnormalities, allowing identification of chromosome abnormalities when concurrent BM is nonanalyzable or nonleukemic... - In vitro and in vivo irinotecan-induced changes in expression profiles of cell cycle and apoptosis-associated genes in acute myeloid leukemia cellsHans Minderman
Department of Medicine, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
Mol Cancer Ther 4:885-900. 2005..To study irinotecan (CPT-11)-induced changes in expression profiles of genes associated with cell cycle control and apoptosis in myeloid leukemia cells in vitro and in vivo... - Translocation (4;11)(p12;q23) with rearrangement of FRYL and MLL in therapy-related acute myeloid leukemiaSheila N J Sait
Clinical Cytogenetics Laboratory, DNA Microarray and Genomics Facility, Departments of Pathology and Medicine, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA
Cancer Genet Cytogenet 177:143-6. 2007..Thus, t(4;11)(p12;q23) with MLL and FRYL involvement represents a new recurring 11q23 translocation, to date seen only in therapy-related acute leukemias... - Genomic, immunophenotypic, and NPM1/FLT3 mutational studies on 17 patients with normal karyotype acute myeloid leukemia (AML) followed by aberrant karyotype AML at relapseEunice S Wang
Leukemia Service, Department of Medicine, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
Cancer Genet Cytogenet 202:101-7. 2010..Additional studies are needed to confirm whether AK AML cells represent selection of rare preexisting clones below aCGH detection and to further characterize the molecular lesions found at time of AK AML relapse... - Molecular characterization of the t(3;9) associated with immortalization in the MCF10A cell lineJohn K Cowell
Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
Cancer Genet Cytogenet 163:23-9. 2005..The exact extent of gains and losses of chromosome regions resulting from rearrangements involving chromosomes 1q, 5q, and 8q have also been characterized using the BAC arrays... - Characterization of the 1p/19q chromosomal loss in oligodendrogliomas using comparative genomic hybridization arrays (CGHa)John K Cowell
Department of Cancer Genetics, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA
J Neuropathol Exp Neurol 63:151-8. 2004.... - A GOG 210 aCGH study of gain at 1q23 in endometrioid endometrial cancer in the context of racial disparity and outcomeCarl Morrison
Division of Molecular Pathology, Department of Pathology, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
Genes Chromosomes Cancer 49:791-802. 2010..Univariate analyses for gain at 1q23 showed a significant association (P = 0.009) with survival. Multivariate analysis for gain at 1q23 did not show a significant association with survival (P = 0.14)... - Breast carcinoma with amplified HER2: a gene expression signature specific for trastuzumab resistance and poor prognosisThaer Khoury
Department of Pathology, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
Mod Pathol 23:1364-78. 2010.... - Novel amplicons on the short arm of chromosome 7 identified using high resolution array CGH contain over expressed genes in addition to EGFR in glioblastoma multiformeMichael R Rossi
Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
Genes Chromosomes Cancer 44:392-404. 2005..The global analysis of amplification afforded by aCGH analysis has improved our ability to define numerical chromosome abnormalities in cancer cells and has raised the possibility that genes other than EGFR may be important... - Molecular characterization of a consistent 4.5-megabase deletion at 4q28 in prostate cancer cellsSei-Ichi Matsui
Roswell Park Cancer Institute, Department of Cancer Genetics, Buffalo, NY 14263, USA
Cancer Genet Cytogenet 159:18-26. 2005..This analysis defines a series of genes in the critical 4q region, which is potentially associated with prostate tumor development... - Array CGH analysis of pediatric medulloblastomasMichael R Rossi
Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
Genes Chromosomes Cancer 45:290-303. 2006..3-q24.2, 2q13.12-q13.2, 6q25-qter, 8p23.1, 10q25.1, and 12q13.12-q13.2. Overall, amplification events were rare, the most common involving MYC (16%), on 8q, although isolated events were seen in 10p11 and 3q... - Duplication of the entire 22.9 Mb human chromosome 21 syntenic region on mouse chromosome 16 causes cardiovascular and gastrointestinal abnormalitiesZhongyou Li
Department of Cancer Genetics and Center for Genetics and Pharmacology, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
Hum Mol Genet 16:1359-66. 2007..This new mouse model represents a powerful tool to further understand the molecular and cellular mechanisms of Down syndrome... - Manipulation of nonsense mediated decay identifies gene mutations in colon cancer Cells with microsatellite instabilityYurij Ionov
Department of Cancer Genetics, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA
Oncogene 23:639-45. 2004..When we applied this modified approach to the analysis of MSI-positive colon cancer cells, we identified mutations in the UVRAG and p300 genes... - Rapid localization of transgenes in mouse chromosomes with a combined Spectral Karyotyping/FISH techniqueSei Ichi Matsui
Dept of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
Mamm Genome 13:680-5. 2002..As such, this protocol has obvious advantages over traditional backcross methods in terms of time, cost and labor for determining the chromosomal location of transgenes... - The BAC resource: tools for array CGH and FISHNorma J Nowak
Roswell Park Cancer Institute and SUNY at Buffalo, Buffalo, New York, USA
Curr Protoc Hum Genet . 2005..The BAC clones through their sequence allow the extent and gene content of numerical aberrations to be delineated by aCGH, and also provide cytogeneticists with tools for subsequent validation or fine mapping studies... - Uniparentalism in sporadic colorectal cancer is independent of imprint status, and coordinate for chromosomes 14 and 18Huferesh K Darbary
Department of Cancer Biology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA
Cancer Genet Cytogenet 189:77-86. 2009..Further studies examined the possibility that uniparentalism was directed towards the selection for imprinted genes, but no association with imprinting was observed... - Two functional coding single nucleotide polymorphisms in STK15 (Aurora-A) coordinately increase esophageal cancer riskMakoto T Kimura
Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
Cancer Res 65:3548-54. 2005..These results indicate that the less kinase active Aurora-A haplotype combinations might induce genomic instability and increase esophageal cancer risk either in a recessive or a dominant manner... - A new normalizing algorithm for BAC CGH arrays with quality control metricsJeffrey C Miecznikowski
Department of Biostatistics, University at Buffalo, Buffalo, NY 14214, USA
J Biomed Biotechnol 2011:860732. 2011..With this novel normalization algorithm and quality control measures, the user can improve their inferences on datasets and pinpoint problems that may arise in their BAC aCGH technology... - Identification of differentially expressed genes in clinically distinct groups of serous ovarian carcinomas using cDNA microarrayYvonne Collins
Department of Gynecologic Oncology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14261, USA
Int J Mol Med 14:43-53. 2004..Our study demonstrates differential gene expression in clinically distinct groups of SEOC using cDNA microarray. These genes may potentially be useful as biomarkers and/or targets for therapeutic intervention... - Genomic instability of human aberrant crypt foci measured by inter-(simple sequence repeat) PCR and array-CGHSadir J Alrawi
Division of Gastrointestinal Surgery, Department of Surgical Oncology, Roswell Park Cancer Institute, Buffalo, NY, USA
Mutat Res 601:30-8. 2006..The absence of genomic events detectible by BAC array-CGH indicates early events in colorectal tumor progression are typically smaller than the approximate 150 kb size of a BAC clone insert... - Recurrent deletion of 9q34 in adult normal karyotype precursor B-cell acute lymphoblastic leukemiaNorma J Nowak
Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
Cancer Genet Cytogenet 199:15-20. 2010..This aberration has not been described before in adult NK B-ALL. Larger number of samples is warranted to determine the prognostic significance of this cryptic deletion... - Comparative genomic instabilities of thyroid and colon cancersDaniel L Stoler
Department of Head and Neck Surgery, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
Arch Otolaryngol Head Neck Surg 133:457-63. 2007.... - Genome-wide array CGH analysis of murine neuroblastoma reveals distinct genomic aberrations which parallel those in human tumorsChristopher S Hackett
Department of Neurology, University of California, San Francisco, California 94143-0114, USA
Cancer Res 63:5266-73. 2003..These data demonstrate conservation of many genetic changes in murine and human neuroblastoma and suggest that further delineation of genetic abnormalities in murine tumors may identify genes important in human disease... - Mapping segmental and sequence variations among laboratory mice using BAC array CGHAntoine M Snijders
Cancer Research Institute, University of California San Francisco, San Francisco, California 94143, USA
Genome Res 15:302-11. 2005..1) distinguish homozygous and heterozygous regions of the genome in interspecific backcross mice, providing an efficient method for genotyping progeny of backcrosses... - Rapid array-based genomic characterization of a subtle structural abnormality: a patient with psychosis and der(18)t(5;18)(p14.1;p11.23)Carolyn M Drazinic
Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA
Am J Med Genet A 134:282-9. 2005..While these methods do not eliminate the requirement for traditional fine-mapping, they provide an efficient approach to identifying the origin and extent of deleted and duplicated material in chromosomal rearrangements... - Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delayBixia Xiang
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA
Am J Med Genet A 146:1942-54. 2008..These results affirmed the analytical and clinical validity of oaCGH and prompted a cytogenomic algorithm to integrate oaCGH, chromosome and FISH analyses for genetic diagnosis... - Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical regionAnne Ronan
J Med Genet 44:448-51. 2007..Cryptic chromosomal abnormalities can be missed on a routine karyotype for investigation of abnormal prenatal ultrasound findings, lending support to the use of aCGH analysis in this setting... - Molecular study of malignant gliomas treated with epidermal growth factor receptor inhibitors: tissue analysis from North American Brain Tumor Consortium Trials 01-03 and 00-01Andrew B Lassman
Department of Neurology, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Clin Cancer Res 11:7841-50. 2005.... - Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorderSusan L Christian
Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
Biol Psychiatry 63:1111-7. 2008..e., microdeletions and microduplications that are undetectable at the level of traditional cytogenetic analysis, allows the potential association of submicroscopic chromosomal imbalances and human disease... - 20q11.1 amplification in giant-cell tumor of bone: Array CGH, FISH, and association with outcomeLaura T Smith
Division of Human Cancer Genetics, Department of Molecular Virology, Immunology and Medical Genetics, Arthur James Cancer Hospital and Richard Solove Research Institute, The Ohio State University, Columbus, OH, USA
Genes Chromosomes Cancer 45:957-66. 2006..001) was the only factor to reach statistical significance. 20q11.1 amplification can be used as a marker of prognostic importance in GCTb. We propose TPX2 as a candidate oncogene in the core-amplified region at 20q11.1... - aCGH local copy number aberrations associated with overall copy number genomic instability in colorectal cancer: coordinate involvement of the regions including BCR and ABLJeremy D Bartos
Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, Rochester, NY, United States
Mutat Res 615:1-11. 2007.... - Chromosome 11 genomic changes in parathyroid adenoma and hyperplasia: array CGH, FISH, and tissue microarraysY Yi
Vanderbilt Ingram Cancer Center, Vanderbilt University, Nashville, TN, USA
Genes Chromosomes Cancer 47:639-48. 2008..This genetic change was relatively independent of other chromosome 11 changes and present in slightly less than one-half of adenomas. 11q23 deletion along with relatively strong CCND1 expression was common in uremic hyperparathyroidism... - Recurrent 16p11.2 microdeletions in autismRavinesh A Kumar
Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
Hum Mol Genet 17:628-38. 2008..Our work reports the first frequency, breakpoint, bioinformatic and phenotypic analyses of a de novo 16p11.2 microdeletion that represents one of the most common recurrent genomic disorders associated with autism to date... - Estimating the arm-wise false discovery rate in array comparative genomic hybridization experimentsDaniel P Gaile
State University of New York at Buffalo
Stat Appl Genet Mol Biol 6:Article32. 2007..We provide results from a series of simulations which involved the analysis of preferentially re-sampled spot assay values from a real aCGH dataset... - Genomic profiles of colorectal cancers differ based on patient smoking statusHelen Swede
Connecticut Tumor Registry, 410 Capitol Avenue, Hartford, CT 06134, USA
Cancer Genet Cytogenet 168:98-104. 2006..In the transforming growth factor-beta signaling pathway, MADH4 mutations were more common in tumors from smokers, whereas transforming growth factor-beta RII mutations were more common among nonsmokers... - A gene expression atlas of the central nervous system based on bacterial artificial chromosomesShiaoching Gong
GENSAT Project, Howard Hughes Medical Institute, The Rockefeller University, 1230 York Avenue, Box 260, New York 10021, USA
Nature 425:917-25. 2003..The atlas, library of BAC vectors and BAC transgenic mice generated in this screen provide a rich resource that allows a broad array of investigations not previously available to the neuroscience community... - Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1)Santhosh Girirajan
Department of Human Genetics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA
Am J Med Genet A 143:999-1008. 2007....
Research Grants
- Affymetrix 437 ArrayerNorma Nowak; Fiscal Year: 2002..The requested instrumentation will afford the DNA Microarray and Genomics Resource with the capacity to continue to provide high quality custom genomic and expression arrays. ..
- Array Based CGH for Genome-Wide Analysis of Wilms' TumorNorma Nowak; Fiscal Year: 2004..We will identify the recurrent copy number aberrations present in our WT bank, tile the implicated chromosomal regions on WT subarrays, and identify candidate genes involved in WT and kidney development. ..
- Biomarkers for the Progression of Head and Neck Squamous Cell CarcinomaNorma Nowak; Fiscal Year: 2007..Clearly, the analysis will also lead to a better understanding of the genetic events leading to invasive HNSCC. ..
- Biomarkers for the Progression of Head and Neck Squamous Cell CarcinomaNorma Nowak; Fiscal Year: 2009..Clearly, the analysis will also lead to a better understanding of the genetic events leading to invasive HNSCC. ..