Genomes and Genes
Constance A Griffin
Affiliation: Johns Hopkins University
- Activating mutation in MET oncogene in familial colorectal cancerDeborah W Neklason
Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA
BMC Cancer 11:424. 2011..Familial colorectal cancer has been linked to chromosome 7q31 by multiple affected relative pair studies. The MET proto-oncogene which resides in this chromosomal region is considered a candidate for genetic susceptibility...
- Molecular cytogenetic characterization of pancreas cancer cell lines reveals high complexity chromosomal alterationsC A Griffin
Department of Pathology, Johns Hopkins University, Baltimore, MD, USA
Cytogenet Genome Res 118:148-56. 2007..We found significant heterogeneity in the breakpoints despite their G-band similarity, including multiple independent regions of loss proximal to the already identified loss of DPC4 at 18q21...
- Recurrent involvement of 2p23 in inflammatory myofibroblastic tumorsC A Griffin
Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
Cancer Res 59:2776-80. 1999..We suggest that chromosomal rearrangements involving 2p23 near or within ALK are recurrent alterations in IMT and that ALK may have a novel role outside its previously recognized realm of lymphoid neoplasms...
- Identification of der(1;19)(q10;p10) in five oligodendrogliomas suggests mechanism of concurrent 1p and 19q lossConstance A Griffin
Department of Pathology, Johns Hopkins University, Baltimore, Maryland 21287, USA
J Neuropathol Exp Neurol 65:988-94. 2006..Subsequent loss of the der(1;19)(p10;q10) then results in the simultaneous 1p and 19q loss observed in oligodendroglioma with retention of the der(1;19)(q10;p10) seen in these cases...
- Patient preferences regarding recontact by cancer genetics cliniciansConstance A Griffin
Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, MD 21287, USA
Fam Cancer 6:265-73. 2007..Limited information exists on patient preferences concerning recontact to provide updated information. We evaluated colon cancer genetics patient preferences concerning recontact about advances in medical genetics...
- Complex rearrangement of chromosomes 1, 7, 21, 22 in Ewing sarcomaNatini Jinawath
Institute of Genetic Medicine, Johns Hopkins Medical Institutions, 600 North Wolfe Street, Baltimore, MD 21287, USA
Cancer Genet Cytogenet 201:42-7. 2010..This case adds to the spectrum of genetic rearrangements identified in ES tumors...
- The importance of IGHV mutational status in del(11q) and del(17p) chronic lymphocytic leukemiaDouglas E Gladstone
The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD 21287, USA
Clin Lymphoma Myeloma Leuk 12:132-7. 2012..06). These data suggest that IGHV mutational status has prognostic relevance even in patients with CLL who are defined as poor risk by genomic FISH analysis...
- RANBP2 and CLTC are involved in ALK rearrangements in inflammatory myofibroblastic tumorsAnkita S Patel
Department of Pathology, Johns Hopkins University, Park SB 202, 600 N Wolfe Street, Baltimore MD 21287, USA
Cancer Genet Cytogenet 176:107-14. 2007....
- Multicolor fluorescence in situ hybridization (SKY) in mycosis fungoides and Sézary syndrome: search for recurrent chromosome abnormalitiesDenise A S Batista
Department of Pathology, Johns Hopkins University, Baltimore, Maryland 21287, USA
Genes Chromosomes Cancer 45:383-91. 2006..2;p11.2). Two patients with SS reported in the literature seem to have a similar translocation. If confirmed, a psu dic(17;8) could be the first recurring translocation detected in at least three patients with MF/SS...
- Chromosomal abnormalities of adenocarcinoma of the pancreas: identifying early and late changesJeanne Kowalski
Department of Oncology, The Johns Hopkins University, Baltimore, MD, USA
Cancer Genet Cytogenet 178:26-35. 2007..In contrast to reports from similar analyses in other epithelial carcinomas, we did not find evidence for multiple karyotypic evolutionary pathways...
- A break-apart fluorescence in situ hybridization assay for detecting RET translocations in papillary thyroid carcinomaFrank Chen
Department of Pathology, The Johns Hopkins Hospital, Baltimore, MD 21287, USA
Cancer Genet Cytogenet 178:128-34. 2007..RET rearrangement can be detected by a break-apart BAC FISH probe set in the interphase nuclei of TPC-1 cells. This assay can potentially detect clinically relevant translocations involving RET...
- A rare e14a3 (b3a3) BCR-ABL fusion transcript in chronic myeloid leukemia: diagnostic challenges in clinical laboratory practiceNatini Jinawath
Institute of Genetic Medicine, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA
J Mol Diagn 11:359-63. 2009....
- A clinically relevant population of leukemic CD34(+)CD38(-) cells in acute myeloid leukemiaJonathan M Gerber
Division of Hematology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Blood 119:3571-7. 2012..ALDH activity appears to distinguish normal from leukemic CD34(+)CD38(-) cells and identifies those AML cells associated with relapse...
- Pleuropulmonary blastoma: cytogenetic and spectral karyotype analysisJanis M Taube
Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD, USA
Pediatr Dev Pathol 9:453-61. 2006..Loss of 10q has not been previously emphasized in PPB. The significance of these chromosome findings is discussed in relation to tumorigenesis...
- Rapid development of colorectal neoplasia in patients with Lynch syndromeDaniel L Edelstein
Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Clin Gastroenterol Hepatol 9:340-3. 2011..Patients with Lynch syndrome have a high risk for colorectal adenomas and carcinomas. We evaluated the development of colorectal neoplasia in these patients...
- Establishment and characterization of a new cell line, A99, from a primary small cell carcinoma of the pancreasShinichi Yachida
Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, MD, USA
Pancreas 40:905-10. 2011..Small cell carcinoma (SCC) of the pancreas is a rare malignancy with a poor prognosis. We established and characterized a primary human pancreatic SCC cell line, designated A99...
- A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple congenital anomaliesAntonie D Kline
Department of Pediatrics, Greater Baltimore Medical Center, Baltimore, Maryland 21204, USA
Am J Med Genet A 129:124-9. 2004..3::q21 --> p23::q22.3 --> qter)...
- Genomic changes in gliomas detected using single nucleotide polymorphism array in formalin-fixed, paraffin-embedded tissue: superior results compared with microsatellite analysisShuko Harada
Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA
J Mol Diagn 13:541-8. 2011..Assessment of genomic changes in routine glioma specimens using SNP arrays is feasible and has great potential as an accurate clinical diagnostic test...
- Molecular confirmation of t(6;11)(p21;q12) renal cell carcinoma in archival paraffin-embedded material using a break-apart TFEB FISH assay expands its clinicopathologic spectrumPedram Argani
Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD 21231 2410, USA
Am J Surg Pathol 36:1516-26. 2012....
- Importance of immunoglobulin heavy chain variable region mutational status in del(13q) chronic lymphocytic leukemiaDouglas E Gladstone
The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD 21287, USA
Leuk Lymphoma 52:1873-81. 2011..001), to receive treatment (p = 0.02), and to have a shorter overall survival (p = 0.13) than the 34 mutated patients. These data suggest that del(13q) conveys an indolent course only in patients with IGHV-mutated CLL...
- Glioblastoma multiforme in the Muir-Torre syndromeZev A Binder
Department of Neurosurgery, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA
Clin Neurol Neurosurg 113:411-5. 2011..Immunohistochemical analysis of the patient's colon carcinoma and his GBM both revealed loss of the mismatch repair proteins mutS homolog 2 (MSH2) and mutS homolog 6 (MSH6)...
- Characterization of chronic myeloid leukemia stem cellsJonathan M Gerber
Division of Hematology, Department of Medicine, The Johns Hopkins University School of Medicine and The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD, USA
Am J Hematol 86:31-7. 2011..These expression patterns suggest that PROTEINASE 3, SURVIVIN, and hTERT are not optimal therapeutic targets in CML stem cells; whereas PRAME and WT1 seem promising...
- Acute mixed lineage leukemia and a t(6;14)(q25;q32) in two adultsMatthew Georgy
Department of Pathology, Division of Molecular Pathology, Johns Hopkins University, 600 N Wolfe Street, Park SB 202, Baltimore, MD 21287, USA
Cancer Genet Cytogenet 185:28-31. 2008..The rarity of the t(6;14) and the AMLL suggests a non-random association between these two events. The near cryptic appearance of the translocation might indicate that its occurrence is underestimated...
- Clear cell sarcoma case report: complex karyotype including t(12;22) in primary and metastatic tumorCarol T Henkle
Department of Pathology, The Johns Hopkins University School of Medicine, Carnegie 367, 600 North Wolfe Street, Baltimore, MD 21287, USA
Cancer Genet Cytogenet 149:63-7. 2004..Four of these involved additional copies and structural abnormalities of chromosome 8. Clarifying such secondary karyotypic changes in CCS may prove valuable to the understanding of tumor cell biology and clinical behavior...
- BCR/ABL rearrangement in two cases of Philadelphia chromosome negative chronic myeloid leukemia: deletion on the derivative chromosome 9 may or not be presentDenise A S Batista
Department of Pathology, Division of Molecular Pathology, Johns Hopkins University, 600 North Wolfe Street, Park SB 202, Baltimore, MD 21287, USA
Cancer Genet Cytogenet 163:164-7. 2005..Some authors reported that patients with the chimeric gene located on the derivative 9 have a poor clinical course. We suggest that deletion rather than location of the chimeric gene alone is more likely to be associated with prognosis...
- GATA6 activates Wnt signaling in pancreatic cancer by negatively regulating the Wnt antagonist Dickkopf-1Yi Zhong
Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland, United States of America
PLoS ONE 6:e22129. 2011..These findings illustrate that one mechanism by which GATA6 promotes pancreatic carcinogenesis is by virtue of its activation of canonical Wnt signaling via regulation of DKK1...
- Assessment of the use and feasibility of video to supplement the genetic counseling process: a cancer genetic counseling perspectiveJ E Axilbund
Department of Oncology, School of Medicine, The Johns Hopkins University, Baltimore, Maryland 21205, USA
J Genet Couns 14:235-43. 2005..The results of this exploratory study provide data relevant for the development of a cancer genetics video for patient education, and suggestions are made based on aspects of information processing and communication theories...
- Effects of imatinib and interferon on primitive chronic myeloid leukaemia progenitorsGreg R Angstreich
Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins University, MD, USA
Br J Haematol 130:373-81. 2005..At least part of the clinical effect of IFN in CML appears to result from its ability to differentiate primitive CML progenitors...
- Cytogenetic study of malignant triton tumor: a case reportMary H Haddadin
Departments of Pathology and Oncology, The Johns Hopkins University School of Medicine, 600 N Wolfe Street Carnegie 367, Baltimore MD 21287, USA
Cancer Genet Cytogenet 144:100-5. 2003..2, 17q11.2, and 19q13.1. FISH showed high increase of copy number for MYC and loss of a single copy for TP53...
- Fluorescence in situ hybridization of 12p in germ cell tumors using a bacterial artificial chromosome clone 12p probe on paraffin-embedded tissue: clinical test validationDanielle Wehle
Department of Pathology and Laboratory Medicine, The Johns Hopkins University, 600 North Wolfe Street, Park Building SB202, Baltimore, MD 21287
Cancer Genet Cytogenet 183:99-104. 2008..All control cases were negative. Because germ cell tumors may metastasize with non-germ cell tumor morphology, interphase FISH may be helpful in distinguishing de novo malignancy from germ cell tumor recurrence in its various forms...
- Cytogenetic characterization of natural killer cell leukemiaRaluca Yonescu
Department of Pathology, Park SB202, The Johns Hopkins University, 600 North Wolfe Street, Baltimore, MD 21287, USA
Cancer Genet Cytogenet 183:125-30. 2008..The abnormalities seen in chromosomes 7 and 17 are consistent with previous reports of chromosomal abnormalities in NK-cell lymphomas...
- Impact of genetic counseling and testing on colorectal cancer screening behaviorKaren A Johnson
Oncology Center, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Genet Test 6:303-6. 2002..However, patients with negative results may receive false reassurance about cancer risks and fail to follow recommended screening. Emphasis should be placed on the importance of screening even when genetic test results are negative...
- Partnership with an African American sorority to enhance participation in cancer genetics researchSharon J Olsen
Mid Atlantic Cancer Genetics Network, The Johns Hopkins University, Baltimore, MD 21205, USA
Community Genet 11:201-7. 2008..The goal was to enhance awareness about inherited breast cancer and to increase enrollment in the national Cancer Genetics Network...
- Midline carcinoma of children and young adults with NUT rearrangementChristopher A French
Department of Pathology, Brigham and Women s Hospital, 75 Francis St, Boston, MA 02115, USA
J Clin Oncol 22:4135-9. 2004..We sought to amass a more definitive series of tumors with NUT and/or BRD4 gene rearrangements and to determine distinct clinicopathologic features...
- Constitutional duplication of a region of chromosome Yp encoding AMELY, PRKY, and TBL1Y: implications for sex chromosome analysis and bone marrow engraftment analysisKathleen M Murphy
Department of Pathology, John Hopkins Medical Institutions, Baltimore, MD, USA
J Mol Diagn 9:408-13. 2007..Although this and other genetic variants involving AMELY are uncommon, one should use caution when using amelogenin for sex chromosome analysis and bone marrow engraftment analysis...
- Inflammatory myofibroblastic tumors of the urinary tract: a clinicopathologic study of 46 cases, including a malignant example inflammatory fibrosarcoma and a subset associated with high-grade urothelial carcinomaElizabeth A Montgomery
Department of Pathology, Johns Hopkins Hospital, Baltimore, MD 21231, USA
Am J Surg Pathol 30:1502-12. 2006..For these reasons, close follow-up is warranted...
- Graft-versus-host reactions and the effectiveness of donor lymphocyte infusionsCarol Ann Huff
Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Johns Hopkins University, Baltimore, MD 21231, USA
Biol Blood Marrow Transplant 12:414-21. 2006..However, with the exception of CML, most patients die of their underlying disease because of insufficient antitumor activity even with active GVHD...
- Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenitaMary Armanios
Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Proc Natl Acad Sci U S A 102:15960-4. 2005..This finding emphasizes the importance of telomere maintenance and telomerase dosage for maintaining tissue proliferative capacity and has relevance for understanding mechanisms of age-related changes...
- Facial dysgenesis: a novel facial syndrome with chromosome 7 deletion p15.1-21.1Julie E Hoover-Fong
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA
Am J Med Genet A 117:47-56. 2003..Haploinsufficiency or complete loss of the HOXA1 gene also does not appear to cause this patient's severe phenotype. Previous reports of chromosome 7p15-21 deletions do not have phenotypes similar to this patient...
- Assignment of BUB3 to human chromosome band 10q26 by in situ hybridizationT K Kwon
The Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD 21224, USA
Cytogenet Cell Genet 88:202-3. 2000
- Occurrence of colorectal adenomas in younger adults: an epidemiologic necropsy studyCheryl J Pendergrass
Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Clin Gastroenterol Hepatol 6:1011-5. 2008..The colorectal adenoma is the precursor lesion in virtually all colorectal cancers. Occurrence of colorectal adenomas has been studied in older adults but analysis in younger adults is lacking...
- A single nucleotide primer extension assay to detect the APC I1307K gene variantKathleen M Murphy
Departments of Pathology and Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
J Mol Diagn 5:222-6. 2003..The single nucleotide extension assay provides a highly sensitive and specific assay to identify individuals with the APC I1307K gene variant who may benefit from increased colorectal screening...
- Patient perspective on the value of genetic counselling for familial pancreas cancerJennifer E Axilbund
Department of Oncology, School of Medicine, The Johns Hopkins University, Baltimore, Maryland, USA
Hered Cancer Clin Pract 3:115-22. 2005..To assess patient views regarding the value of genetic counselling for familial pancreas cancer in the absence of predictive genetic testing...
- Active recruitment increased enrollment in a hereditary cancer registryTara M Friebel
Mid-Atlantic Cancer Genetics Network, Department of Pathology, Johns Hopkins University School of Medicine, Park SB202, 600 N. Wolfe St, Baltimore, MD 21287, USA
J Clin Epidemiol 57:1172-6. 2004..6% to 67.4%). CONCLUSION: Allocating research staff specifically for recruitment and personal contact with potential participants is effective in achieving increased enrollment into a national hereditary cancer research registry...
- Tnk1: a novel intracellular tyrosine kinase gene isolated from human umbilical cord blood CD34+/Lin-/CD38- stem/progenitor cellsG T Hoehn
Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287 5001, USA
Oncogene 12:903-13. 1996..1), near the p53 locus. Thus, Tnk1 is a novel tyrosine kinase that may be involved in signalling pathways utilized broadly during fetal development, more selectively in adult tissues and in cell of the lymphohematopoietic system...
- Localization of the human Mxi1 transcription factor gene (MXI1) to chromosome 10q24-q25D S Wechsler
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287
Genomics 21:669-72. 1994
- High mobility group protein I(Y): a candidate architectural protein for chromosomal rearrangements in prostate cancer cellsNatsuki Takaha
Department of Urology, The Johns Hopkins University School of Medicine, Marburg 121, 600 North Wolfe Street, Baltimore, MD 21287, USA
Cancer Res 62:647-51. 2002..Unbalanced chromosomal rearrangements are common in solid human tumors...
- Localization and physical mapping of the prostate-specific membrane antigen (PSM) gene to human chromosome 11C W Rinker-Schaeffer
Brady Urological Institute, Johns Hopkins Medical School, Baltimore, Maryland 21218, USA
Genomics 30:105-8. 1995..Using this information, initial mapping studies identified two potential PSM gene loci at 11p11.1-p13 and 11q14. Further high-stringency analysis using cosmid probes identified the 11q14 region as the location of the PSM gene...
- Localization of the human stem cell tyrosine kinase-1 gene (FLT3) to 13q12-->q13C E Carow
Oncology Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Cytogenet Cell Genet 70:255-7. 1995..The results of both analyses show that the gene for STK-1 (FLT3) localizes to chromosome 13q12-->q13...
- A distinctive pediatric renal neoplasm characterized by epithelioid morphology, basement membrane production, focal HMB45 immunoreactivity, and t(6;11)(p21.1;q12) chromosome translocationP Argani
Department of Pathology, The Johns Hopkins Hospital, Baltimore, Maryland 21231 2410, USA
Am J Pathol 158:2089-96. 2001..Cytogenetic analysis reveals the identical t(6;11)(p21.1;q12) chromosome translocation as the sole abnormality in these two tumors, confirming their identity and distinctive nature...
- Acute bilineal leukemia: a rare disease with poor outcomeE G Weir
Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA
Leukemia 21:2264-70. 2007..Cytogenetic abnormalities of t(9;22) and 11q23 are common in, and may be restricted to, B-My cases, while T-My cases have frequent but generally non-recurring abnormalities. Both types of aBLL are associated with poor outcome...
- JAK3: expression and mapping to chromosome 19p12-13.1M G Safford
Oncology Center, Department of Biology, Johns Hopkins University, Baltimore, Maryland 21287, USA
Exp Hematol 25:374-86. 1997..Using fluorescence in situ hybridization we have localized JAK3 to 19p12-13.1, the same region of chromosome 19 to which the LEY I-L hormone maps (19p12-13.2)...
- Chromosomal localization and partial genomic structure of the human peroxisome proliferator activated receptor-gamma (hPPAR gamma) geneB A Beamer
Division of Geriatric Medicine and Gerontology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Biochem Biophys Res Commun 233:756-9. 1997..Furthermore, D3S1263 is a suitable polymorphic marker for linkage analysis to evaluate PPAR gamma's potential contribution to genetic susceptibility to obesity, lipoatrophy, insulin resistance, and diabetes...
- ALK1 and p80 expression and chromosomal rearrangements involving 2p23 in inflammatory myofibroblastic tumorC M Coffin
Department of Pathology, University of Utah, Salt Lake City, Utah 84132, USA
Mod Pathol 14:569-76. 2001..These findings confirm the neoplastic nature of a subset IMT with ALK abnormalities and suggest that aneuploid IMT is a subset with more aggressive clinical behavior...
- Overlapping deletion regions at 11q23 in myelodysplastic syndrome and chronic lymphocytic leukemia, characterized by a novel BAC probe setAnn Siew-Gek Lee
Division of Medical Sciences, National Cancer Centre, Division of Medical Sciences, 11 Hospital Drive, 169610 Singapore
Cancer Genet Cytogenet 153:151-7. 2004..Hence, the deletions on 11q23 are different but overlapping for CLL and MDS, implicating different genes involved for these diseases...
- An endometrial stromal sarcoma cell line with the JAZF1/PHF1 chimeraIoannis Panagopoulos
Department of Clinical Genetics, Lund University Hospital, SE 221 85 Lund, Sweden
Cancer Genet Cytogenet 185:74-7. 2008..The present cell line constitutes an excellent model for further studies on the impact of the JAZF1/PHF1 fusion...
- Clonal cytogenetic abnormalities and BCL2 rearrangement in interdigitating dendritic cell sarcomaHassan Nayer
Leuk Lymphoma 47:2651-4. 2006
- MID ATLANTIC CANCER GENETICS NETWORKConstance Griffin; Fiscal Year: 2005....