Research Topics
Genomes and Genes
| Bert VogelsteinSummaryAffiliation: Johns Hopkins University Country: USA Publications
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Genetics. Please don't call it cloning!Bert Vogelstein
Howard Hughes Medical Institute and Kimmel Cancer Center at Johns Hopkins University, Baltimore, MD 21231, USA
Science 295:1237. 2002- Cancer genes and the pathways they controlBert Vogelstein
Howard Hughes Medical Institute and The Sidney Kimmel Comprehensive Cancer Center, The Johns Hopkins University Medical Institutions, Baltimore, Maryland 21231, USA
Nat Med 10:789-99. 2004..The purposes of this review are to highlight examples of progress in these areas, indicate where knowledge is scarce and point out fertile grounds for future investigation... - Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemiaMohamed Bentires-Alj
Cancer Biology Program, Department of Medicine, Harvard Medical School, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA
Cancer Res 64:8816-20. 2004..Our data demonstrate that mutations in PTPN11 occur at low frequency in several human cancers, especially neuroblastoma and AML, and suggest that Shp2 may be a novel target for antineoplastic therapy... - Colorectal cancer: mutations in a signalling pathwayD Williams Parsons
The Sidney Kimmel Comprehensive Cancer Center and The Howard Hughes Medical Institute, The Johns Hopkins University Medical Institutions, Baltimore, Maryland 21231, USA
Nature 436:792. 2005..The discovery of this mutational activation of a key cell-signalling pathway may provide new targets for therapeutic intervention... 
Patient-oriented gene set analysis for cancer mutation dataSimina M Boca
Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, 615 N, Wolfe Street, Baltimore, MD 21205, USA
Genome Biol 11:R112. 2010..In mutation analysis, these patient-oriented methods are more transparent, interpretable, and statistically powerful than traditional gene-oriented methods...- Genome-wide linkage scan for colorectal cancer susceptibility genes supports linkage to chromosome 3qSimone Picelli
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
BMC Cancer 8:87. 2008..In an attempt to identify novel colorectal cancer predisposing genes, we have performed a genome-wide linkage analysis in 30 Swedish non-FAP/non-HNPCC families with a strong family history of colorectal cancer... - Mutant PIK3CA promotes cell growth and invasion of human cancer cellsYardena Samuels
The Sidney Kimmel Comprehensive Cancer Center and The Howard Hughes Medical Institute, The Johns Hopkins University Medical Institutions, Baltimore, MD 21231, USA
Cancer Cell 7:561-73. 2005..Treatment with the PI3K inhibitor LY294002 abrogated PIK3CA signaling and preferentially inhibited growth of PIK3CA mutant cells. These data have important implications for therapy of cancers harboring PIK3CA alterations... - Genetic inactivation of AKT1, AKT2, and PDPK1 in human colorectal cancer cells clarifies their roles in tumor growth regulationKajsa Ericson
The Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
Proc Natl Acad Sci U S A 107:2598-603. 2010..These findings show that the PI3K signaling pathway is wired differently in human cancer cells than in other cell types or organisms, which has important implications for the design and testing of drugs that target this pathway... - A frequent kinase domain mutation that changes the interaction between PI3Kalpha and the membraneDiana Mandelker
The Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
Proc Natl Acad Sci U S A 106:16996-7001. 2009..These structural and biochemical data suggest a previously undescribed mechanism for mutational activation of a kinase that involves perturbation of its interaction with the cellular membrane... - Serial assessment of human tumor burdens in mice by the analysis of circulating DNACarlo Rago
The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute, Baltimore, Maryland, USA
Cancer Res 67:9364-70. 2007..A marked, transient spike in circulating human tumor DNA occurred immediately after cytotoxic therapy or surgery. This simple assay may find broad utility in target validation studies and preclinical drug development programs... - Mutational analysis of the tyrosine phosphatome in colorectal cancersZhenghe Wang
Sidney Kimmel Comprehensive Cancer Center, Howard Hughes Medical Institute, Johns Hopkins University Medical Institutions, Baltimore, MD 21231, USA
Science 304:1164-6. 2004..These observations suggest that the mutated tyrosine phosphatases are tumor suppressor genes, regulating cellular pathways that may be amenable to therapeutic intervention... - Glucose deprivation contributes to the development of KRAS pathway mutations in tumor cellsJihye Yun
Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
Science 325:1555-9. 2009..Together, these data suggest that glucose deprivation can drive the acquisition of KRAS pathway mutations in human tumors... - PI3Kα inhibitors that inhibit metastasisOleg Schmidt-Kittler
The Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
Oncotarget 1:339-48. 2010..These data support the idea that PI3Kα plays an important role in the metastatic process and suggest a more informed strategy for selecting drugs worthy of further development for clinical application... - Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor typesSian Jones
Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland, USA
Hum Mutat 33:100-3. 2012..These findings suggest that the aberrant chromatin remodeling consequent to ARID1A inactivation contributes to a variety of different types of neoplasms... - A panel of isogenic human cancer cells suggests a therapeutic approach for cancers with inactivated p53Surojit Sur
The Howard Hughes Medical Institute and The Ludwig Center for Cancer Genetics and Therapeutics, Baltimore, MD 21231, USA
Proc Natl Acad Sci U S A 106:3964-9. 2009..This hypothesis was validated by demonstrating that stressed cancer cells without WT TP53 alleles were highly sensitive to PLK1 inhibitors, both in vivo and in vitro... - Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancersLaura D Wood
The Ludwig Center for Cancer Genetics and Therapeutics, The Howard Hughes Medical Institute, Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA
Hum Mutat 27:1060-1. 2006..Our results implicate these tyrosine kinase genes in the pathogenesis of other tumor types and suggest that they may be useful targets for diagnostic and therapeutic intervention in selected patients... - Core signaling pathways in human pancreatic cancers revealed by global genomic analysesSian Jones
Sol Goldman Pancreatic Cancer Research Center, Ludwig Center and Howard Hughes Medical Institute at the Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
Science 321:1801-6. 2008..Dysregulation of these core pathways and processes through mutation can explain the major features of pancreatic tumorigenesis... - Pharmacologic and toxicologic evaluation of C. novyi-NT sporesLuis A Diaz
Howard Hughes Medical Institute, The Johns Hopkins School of Medicine, Baltimore, MD 21231, USA
Toxicol Sci 88:562-75. 2005..However, there was no laboratory or histopathologic evidence of sepsis, and the toxicity could be effectively controlled by simple hydration... - The genomic landscapes of human breast and colorectal cancersLaura D Wood
Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute at Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
Science 318:1108-13. 2007..These results have implications for understanding the nature and heterogeneity of human cancers and for using personal genomics for tumor diagnosis and therapy... - The genome and transcriptomes of the anti-tumor agent Clostridium novyi-NTChetan Bettegowda
The Howard Hughes Medical Institute, The Ludwig Center for Cancer Genetics and Therapeutics, The Sidney Kimmel Comprehensive Cancer Center, Department of Pharmacology and Molecular Sciences, Johns Hopkins Medical Institutions, Baltimore, Maryland 21231, USA
Nat Biotechnol 24:1573-80. 2006..Through this analysis, we found that C. novyi-NT spores contained mRNA and that the spore transcripts were distinct from those in vegetative forms of the bacterium... - The consensus coding sequences of human breast and colorectal cancersTobias Sjoblom
Ludwig Center and Howard Hughes Medical Institute, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD 21231, USA
Science 314:268-74. 2006..These data define the genetic landscape of two human cancer types, provide new targets for diagnostic and therapeutic intervention, and open fertile avenues for basic research in tumor biology... - An integrated genomic analysis of human glioblastoma multiformeD Williams Parsons
Ludwig Center for Cancer Genetics and Therapeutics, and Howard Hughes Medical Institute at Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
Science 321:1807-12. 2008..These studies demonstrate the value of unbiased genomic analyses in the characterization of human brain cancer and identify a potentially useful genetic alteration for the classification and targeted therapy of GBMs... - Somatic mutations in PI3Kalpha: structural basis for enzyme activation and drug designSandra B Gabelli
Department of Biophysics and Biophysical Chemistry, The Johns Hopkins University, Baltimore, MD 21205, USA
Biochim Biophys Acta 1804:533-40. 2010..Structural biology is providing insights into the flexibility of the PI3Ks, and providing basis for understanding the effects of mutations, drug resistance and specificity... - The genetic landscape of the childhood cancer medulloblastomaD Williams Parsons
Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
Science 331:435-9. 2011.... - BEAMing up for detection and quantification of rare sequence variantsMeng Li
The Sidney Kimmel Comprehensive Cancer Center, Howard Hughes Medical Institute, and Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, 1650 Orleans Street, Baltimore, Maryland 21231, USA
Nat Methods 3:95-7. 2006..This allowed enumeration of mutant and wild-type sequences even when they were present at ratios less than 1:10,000 and was sensitive enough to directly quantify the error rate of DNA polymerases used for PCR... - A multidimensional analysis of genes mutated in breast and colorectal cancersJimmy Lin
Ludwig Center for Cancer Genetics and Therapeutics, and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA
Genome Res 17:1304-18. 2007..These studies provide a multidimensional framework to guide further research and help identify cellular processes critical for malignant progression and therapeutic intervention... - Chromatid cohesion defects may underlie chromosome instability in human colorectal cancersThomas D Barber
The Ludwig Center and Howard Hughes Medical Institute at the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD 21231, USA
Proc Natl Acad Sci U S A 105:3443-8. 2008..These results suggest that defective sister chromatid cohesion as a result of somatic mutations may represent a major cause of chromosome instability in human cancers... - Distant metastasis occurs late during the genetic evolution of pancreatic cancerShinichi Yachida
Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland 21231, USA
Nature 467:1114-7. 2010..These data provide novel insights into the genetic features underlying pancreatic cancer progression and define a broad time window of opportunity for early detection to prevent deaths from metastatic disease... - A bacterial protein enhances the release and efficacy of liposomal cancer drugsIan Cheong
Howard Hughes Medical Institute and the Ludwig Center for Cancer Genetics and Therapeutics, Johns Hopkins Kimmel Comprehensive Cancer Center, Baltimore, MD 21231, USA
Science 314:1308-11. 2006..This protein could potentially be incorporated into diverse experimental approaches for the specific delivery of chemotherapeutic agents to tumors... - Comparative lesion sequencing provides insights into tumor evolutionSian Jones
The Ludwig Center for Cancer Genetics and Therapeutics, Department of Biostatistics, Howard Hughes Medical Institute, and Sidney Kimmel Cancer Center at The Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA
Proc Natl Acad Sci U S A 105:4283-8. 2008..These results have important implications for understanding human tumor pathogenesis, particularly those associated with metastasis... - Circulating mutant DNA to assess tumor dynamicsFrank Diehl
The Ludwig Center for Cancer Genetics and Therapeutics, Howard Hughes Medical Institute and Sidney Kimmel Cancer Center at the Johns Hopkins Medical Institutions, Baltimore, Maryland 21231, USA
Nat Med 14:985-90. 2008..We suggest that this personalized genetic approach could be generally applied to individuals with other types of cancer... - Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility geneSian Jones
Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Baltimore, MD 21231, USA
Science 324:217. 2009..These results illustrate that complete, unbiased sequencing of protein-coding genes can lead to the identification of a gene responsible for a hereditary disease... - Mutational analysis of the tyrosine kinome in colorectal cancersAlberto Bardelli
The Howard Hughes Medical Institute and The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD 21231, USA
Science 300:949. 2003 - Presence of somatic mutations in most early-stage pancreatic intraepithelial neoplasiaMitsuro Kanda
Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Gastroenterology 142:730-733.e9. 2012..These findings could improve our understanding of the development and progression of these premalignant lesions... - Three classes of genes mutated in colorectal cancers with chromosomal instabilityZhenghe Wang
Sidney Kimmel Comprehensive Cancer Center and Howard Hughes Medical Institute at Johns Hopkins University School of Medicine, Baltimore, Maryland 21231, USA
Cancer Res 64:2998-3001. 2004..This analysis buttresses the evidence that chromosomal instability has a genetic basis and provides clues to the mechanistic basis of instability in cancers... - Cancer-specific high-throughput annotation of somatic mutations: computational prediction of driver missense mutationsHannah Carter
Department of Biomedical Engineering and Institute for Computational Medicine, Johns Hopkins University, Baltimore, Maryland 21218, USA
Cancer Res 69:6660-7. 2009..Based on a model that assumed the glioblastoma multiforme mutations are a mixture of drivers and passengers, we estimate that 8% of these mutations are drivers, causally contributing to tumorigenesis... - Inactivation of hCDC4 can cause chromosomal instabilityHarith Rajagopalan
The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland 21231, USA
Nature 428:77-81. 2004..Our data suggest that chromosomal instability is caused by specific genetic alterations in a large fraction of human cancers and can occur before malignant conversion... - The structure of a human p110alpha/p85alpha complex elucidates the effects of oncogenic PI3Kalpha mutationsChuan Hsiang Huang
Department of Biophysics and Biophysical Chemistry, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Science 318:1744-8. 2007..In addition to providing new insights about the structure of PI3Kalpha, these results suggest specific mechanisms for the effect of oncogenic mutations in p110alpha and p85alpha... - BEAMing: single-molecule PCR on microparticles in water-in-oil emulsionsFrank Diehl
The Howard Hughes Medical Institute, and The Ludwig Center for Cancer Genetics and Therapeutics, The Johns Hopkins Kimmel Cancer Center, 1650 Orleans Street, Baltimore, Maryland 21231, USA
Nat Methods 3:551-9. 2006 - Histone modifications and silencing prior to DNA methylation of a tumor suppressor geneKurtis E Bachman
The Howard Hughes Medical Institute, The Sidney Kimmel Comprehensive Cancer Center, and Program in Cellular and Molecular Medicine, The Johns Hopkins University School of Medicine, 1650 Orleans Street, Baltimore, MD 21231, USA
Cancer Cell 3:89-95. 2003..These results have important implications for understanding the biochemical events underlying the silencing of tumor suppressor genes and the resultant growth suppression... - Identification of compounds that inhibit growth of 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine-resistant cancer cellsKurtis E Bachman
Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Mol Cancer Ther 4:1026-30. 2005..These compounds may prove useful for the treatment or prevention of gastrointestinal tumors arising after exposure to PhIP and related carcinogens... - Genetic mutations associated with cigarette smoking in pancreatic cancerAmanda Blackford
Department of Oncology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins Medical Institutions, Baltimore, Maryland 21231, USA
Cancer Res 69:3681-8. 2009..Pancreatic carcinomas from cigarette smokers harbor more mutations than do carcinomas from never smokers. The types and patterns of these mutations provide insight into the mechanisms by which cigarette smoking causes pancreatic cancer... - Identification of a binding partner for the endothelial cell surface proteins TEM7 and TEM7RAkash Nanda
The Howard Hughes Medical Institute, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA
Cancer Res 64:8507-11. 2004..These studies establish the overexpression of TEM7 protein in tumor endothelium and provide new opportunities for the delivery of therapeutic and imaging agents to the vessels of solid tumors... - Mutations in CIC and FUBP1 contribute to human oligodendrogliomaChetan Bettegowda
Ludwig Center for Cancer Genetics and Howard Hughes Medical Institutions, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21287, USA
Science 333:1453-5. 2011..These results suggest a critical role for these genes in the biology and pathology of oligodendrocytes... - The antisense transcriptomes of human cellsYiping He
Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
Science 322:1855-7. 2008..Antisense transcripts thus appear to be a pervasive feature of human cells, which suggests that they are a fundamental component of gene regulation... - Low-grade serous carcinomas of the ovary contain very few point mutationsSian Jones
Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
J Pathol 226:413-20. 2012..Our mutational analysis demonstrates that point mutations are much less common in low-grade serous tumours of the ovary than in other adult tumours, a finding with interesting scientific and clinical implications... - Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathwaysJian Wu
Ludwig Center for Cancer Genetics and Howard Hughes Medical Institutions, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
Proc Natl Acad Sci U S A 108:21188-93. 2011..These results highlight the essential role of ubiquitin ligases in these neoplasms and have important implications for the diagnosis and treatment of patients with cystic tumors... - Analysis of mutations in DNA isolated from plasma and stool of colorectal cancer patientsFrank Diehl
The Ludwig Center for Cancer Genetics and Therapeutics, Howard Hughes Medical Institute and Sidney Kimmel Cancer Center, Baltimore, Maryland, USA
Gastroenterology 135:489-98. 2008..A secondary purpose was to compare the results of plasma and stool DNA testing using the same technology... - SMAD4 gene mutations are associated with poor prognosis in pancreatic cancerAmanda Blackford
Department of Oncology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins Medical Institutions, Baltimore, Maryland 21231, USA
Clin Cancer Res 15:4674-9. 2009..Recently, the majority of protein coding genes were sequenced in a collection of pancreatic cancers, providing an unprecedented opportunity to identify genetic markers of prognosis for patients with adenocarcinoma of the pancreas... - High frequency of mutations of the PIK3CA gene in human cancersYardena Samuels
Sidney Kimmel Comprehensive Cancer Center, Howard Hughes Medical Institute, The Johns Hopkins University Medical Institutions, Baltimore, MD 21231, USA
Science 304:554. 2004 - Sensitive digital quantification of DNA methylation in clinical samplesMeng Li
The Ludwig Center for Cancer Genetics and Therapeutics, Howard Hughes Medical Institute and Sidney Kimmel Cancer Center at the Johns Hopkins Medical Institutions, Baltimore, Maryland, USA
Nat Biotechnol 27:858-63. 2009..In addition to diagnostic and prognostic applications, this digital quantification of rare methylation events should be applicable to preclinical assessment of new epigenetic biomarkers and quantitative analyses in epigenetic research... - Integrated analysis of homozygous deletions, focal amplifications, and sequence alterations in breast and colorectal cancersRebecca J Leary
The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
Proc Natl Acad Sci U S A 105:16224-9. 2008..These analyses provide an integrated view of copy number and sequencing alterations on a genome-wide scale and identify genes and pathways that could prove useful for cancer diagnosis and therapy... - Altered telomeres in tumors with ATRX and DAXX mutationsChristopher M Heaphy
Department of Pathology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA
Science 333:425. 2011..ATRX mutations also correlate with abnormal telomeres in tumors of the central nervous system. These data suggest that an alternative telomere maintenance function may operate in human tumors with alterations in the ATRX or DAXX genes... - Recurrent GNAS mutations define an unexpected pathway for pancreatic cyst developmentJian Wu
Ludwig Center for Cancer Genetics and Howard Hughes Medical Institutions, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
Sci Transl Med 3:92ra66. 2011..In addition to defining a new pathway for pancreatic neoplasia, these data suggest that GNAS mutations can inform the diagnosis and management of patients with cystic pancreatic lesions... - Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinomaSian Jones
Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
Science 330:228-31. 2010..In a total of 42 OCCCs, 7% had mutations in PPP2R1A and 57% had mutations in ARID1A. These results suggest that aberrant chromatin remodeling contributes to the pathogenesis of OCCC... - SMAC/Diablo-dependent apoptosis induced by nonsteroidal antiinflammatory drugs (NSAIDs) in colon cancer cellsManu Kohli
Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, MD 21231, USA
Proc Natl Acad Sci U S A 101:16897-902. 2004..These results establish that SMAC/Diablo is essential for the apoptosis induced by NSAIDs in colon cancer cells... - Bacteriolytic therapy can generate a potent immune response against experimental tumorsNishant Agrawal
Howard Hughes Medical Institute, Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA
Proc Natl Acad Sci U S A 101:15172-7. 2004..Similar effects were observed in rabbits with intrahepatic tumors. It was particularly notable that the induced immune response, when combined with the bacteriolytic effects of C. novyi-NT, could eradicate large established tumors... - Heteroplasmic mitochondrial DNA mutations in normal and tumour cellsYiping He
The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA
Nature 464:610-4. 2010..In particular, they demonstrate that individual humans are characterized by a complex mixture of related mitochondrial genotypes rather than a single genotype... - Detection of tumor DNA at the margins of colorectal cancer liver metastasisMatthias Holdhoff
Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute at Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland, USA
Clin Cancer Res 17:3551-7. 2011..Defining an adequate resection margin of colorectal cancer liver metastases is essential for optimizing surgical technique. We have attempted to evaluate the resection margin through a combination of histopathologic and genetic analyses... - Facile methods for generating human somatic cell gene knockouts using recombinant adeno-associated virusesManu Kohli
The Howard Hughes Medical Institute, The Sidney Kimmel Comprehensive Cancer Center, and The Cellular and Molecular Medicine Program, The Johns Hopkins University Medical Institutions, Baltimore, MD 21231, USA
Nucleic Acids Res 32:e3. 2004..This technology should be broadly applicable to in vitro studies that require the manipulation of the human genome... - Tumour suppression: disruption of HAUSP gene stabilizes p53Jordan M Cummins
Howard Hughes Medical Institute, The Sidney Kimmel Comprehensive Cancer Center, and Program in Cellular and Molecular Medicine, The Johns Hopkins University Medical Institutions, Baltimore, Maryland 21231, USA
Nature 428:1 p following 486. 2004 - Multicolor in vitro translationGiovanni Traverso
Howard Hughes Medical Institute, Sidney Kimmel Comprehensive Cancer Center, and Graduate Program in Human Genetics, Johns Hopkins School of Medicine, 1650 Orleans Street, Baltimore, Maryland 21231, USA
Nat Biotechnol 21:1093-7. 2003..This technology can be applied in various situations, including the simplified detection of rare truncating mutations in clinical samples from cancer patients... - Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1Nishant Agrawal
Department of Otolaryngology Head and Neck Surgery, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21287, USA
Science 333:1154-7. 2011..Nearly 40% of the 28 mutations identified in NOTCH1 were predicted to truncate the gene product, suggesting that NOTCH1 may function as a tumor suppressor gene rather than an oncogene in this tumor type... - X-linked inhibitor of apoptosis protein (XIAP) is a nonredundant modulator of tumor necrosis factor-related apoptosis-inducing ligand (TRAIL)-mediated apoptosis in human cancer cellsJordan M Cummins
The Sidney Kimmel Comprehensive Cancer Center, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Cancer Res 64:3006-8. 2004..These results demonstrate that XIAP is a nonredundant modulator of TRAIL-mediated apoptosis and provide a rationale for XIAP as a therapeutic target... - DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumorsYuchen Jiao
Ludwig Center for Cancer Genetics and Howard Hughes Medical Institutions, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
Science 331:1199-203. 2011..We also found mutations in genes in the mTOR (mammalian target of rapamycin) pathway in 14% of the tumors, a finding that could potentially be used to stratify patients for treatment with mTOR inhibitors... - Digital karyotypingTian-Li Wang
The Howard Hughes Medical Institute and The Sidney Kimmel Comprehensive Cancer Center, The Johns Hopkins University Medical Institutions, Baltimore, MD 21231, USA
Proc Natl Acad Sci U S A 99:16156-61. 2002..Foreign DNA sequences not present in the normal human genome could also be readily identified. Digital karyotyping provides a broadly applicable means for systematic detection of DNA copy number changes on a genomic scale... - Detection and quantification of mutations in the plasma of patients with colorectal tumorsFrank Diehl
Howard Hughes Medical Institute and The Sidney Kimmel Comprehensive Cancer Center, The Johns Hopkins Medical Institutions, 1650 Orleans Street, Baltimore, MD 21231, USA
Proc Natl Acad Sci U S A 102:16368-73. 2005..01% to 1.7% of the total APC molecules. These results have implications for the mechanisms through which tumor DNA is released into the circulation and for diagnostic tests based on this phenomenon... - Hyper-recombination and genetic instability in BLM-deficient epithelial cellsGiovanni Traverso
Howard Hughes Medical Institute and Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, Maryland 21231, USA
Cancer Res 63:8578-81. 2003..However, the enhanced homologous recombination was associated with losses of heterozygosity. These observations define a type of genetic instability that has significant implications for the evolution of cancer... - Structural comparisons of class I phosphoinositide 3-kinasesL Mario Amzel
Department of Biophysics and Biophysical Chemistry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Nat Rev Cancer 8:665-9. 2008..Comparison of the PI3K structures also identified structural features that could potentially be exploited for the design of isoform-specific inhibitors... - Design and analysis issues in genome-wide somatic mutation studies of cancerGiovanni Parmigiani
Ludwig Center for Cancer Genetics and Therapeutics, and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
Genomics 93:17-21. 2009.... - TEM8 interacts with the cleaved C5 domain of collagen alpha 3(VI)Akash Nanda
Program in Human Genetics and Molecular Biology and the Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine, Baltimore, Maryland, USA
Cancer Res 64:817-20. 2004..These results suggest that the TEM8/C5 interaction may play an important biological role in tumor angiogenesis... - Tumorigenesis: RAF/RAS oncogenes and mismatch-repair statusHarith Rajagopalan
Sidney Kimmel Comprehensive Cancer Centre, Howard Hughes Medical Institution and Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21231, USA
Nature 418:934. 2002.... - Detection of APC mutations in fecal DNA from patients with colorectal tumorsGiovanni Traverso
Graduate Program in Human Genetics, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Johns Hopkins School of Medicine, Baltimore, USA
N Engl J Med 346:311-20. 2002..CONCLUSIONS: APC mutations can be detected in fecal DNA from patients with relatively early colorectal tumors. This feasibility study suggests a new approach for the early detection of colorectal neoplasms... - Contribution of bone marrow-derived endothelial cells to human tumor vasculatureBrock A Peters
The Sidney Kimmel Comprehensive Cancer Center and Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, 1650 Orleans Street, Baltimore, Maryland 21231, USA
Nat Med 11:261-2. 2005..These results illustrate substantial differences between human tumors and many mouse models with respect to angiogenesis and have important implications for the translation of experimental antiangiogenic therapies to the clinic... - DNMT1 and DNMT3b cooperate to silence genes in human cancer cellsIna Rhee
The Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21231, USA
Nature 416:552-6. 2002..Here we demonstrate that two enzymes cooperatively maintain DNA methylation and gene silencing in human cancer cells, and provide compelling evidence that such methylation is essential for optimal neoplastic proliferation... - Development of personalized tumor biomarkers using massively parallel sequencingRebecca J Leary
Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
Sci Transl Med 2:20ra14. 2010..This approach provides an exquisitely sensitive and broadly applicable approach for the development of personalized biomarkers to enhance the clinical management of cancer patients... - Tumor endothelial marker 1 (Tem1) functions in the growth and progression of abdominal tumorsAkash Nanda
The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins Medical Institutions, Baltimore, MD 21205, USA
Proc Natl Acad Sci U S A 103:3351-6. 2006..Therefore, they have significant implications for the mechanisms underlying tumor invasiveness and for models that evaluate this process... - The colorectal microRNAomeJordan M Cummins
The Sidney Kimmel Comprehensive Cancer Center and Howard Hughes Medical Institute, Johns Hopkins University Medical Institutions, Baltimore, MD 21231, USA
Proc Natl Acad Sci U S A 103:3687-92. 2006..These studies suggest that the human genome contains many more miRNAs than currently identified and provide an approach for the large-scale experimental cloning of novel human miRNAs in human tissues... - Targeted inactivation of CTNNB1 reveals unexpected effects of beta-catenin mutationTimothy A Chan
The Sidney Kimmel Comprehensive Cancer Center, The Johns Hopkins Medical Institutions, 1650 Orleans Street, Baltimore, MD 21231, USA
Proc Natl Acad Sci U S A 99:8265-70. 2002..These findings pose several challenges to current models of APC/beta-catenin function... - Overcoming the hypoxic barrier to radiation therapy with anaerobic bacteriaChetan Bettegowda
Howard Hughes Medical Institute and Sidney Kimmel Cancer Center, Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA
Proc Natl Acad Sci U S A 100:15083-8. 2003..C. novyi-NT spores added little toxicity to the radiotherapeutic regimens, and the combination resulted in long-term remissions in a significant fraction of animals... - HAUSP is required for p53 destabilizationJordan M Cummins
The Howard Hughes Medical Institute, The Sidney Kimmel Comprehensive Cancer Center, Program in Cellular and Molecular Medicine, The Johns Hopkins University Medical Institutions, Baltimore, Maryland, USA
Cell Cycle 3:689-92. 2004..These results demonstrate that MDM2, rather than p53, is the substrate for HAUSP under physiologic conditions and document a fascinating and unexpected twist to the regulation of the p53/MDM2 axis... - DEC1 is a downstream target of TGF-beta with sequence-specific transcriptional repressor activitiesLeigh Zawel
The Howard Hughes Medical Institute and The Sidney Kimmel Comprehensive Cancer Center, The Johns Hopkins Medical Institutions, 1650 Orleans Street, Baltimore, MD 21231, USA
Proc Natl Acad Sci U S A 99:2848-53. 2002..However, DEC1 may function in concert with other signaling components to mediate certain biologic effects of TGF-beta... - Targeting vascular and avascular compartments of tumors with C. novyi-NT and anti-microtubule agentsLong H Dang
Howard Hughes Medical Institute and Sidney Kimmel Cancer Center, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA
Cancer Biol Ther 3:326-37. 2004..novyi-NT spores could germinate. A single intravenous injection of C. novyi-NT plus selected anti-microtubule agents was able to cause regressions of several human tumor xenografts in nude mice in the absence of excessive toxicity... - Phosphorylation of beta-catenin at S33, S37, or T41 can occur in the absence of phosphorylation at T45 in colon cancer cellsZhenghe Wang
The Sidney Kimmel Comprehensive Cancer Center, The Johns Hopkins University Medical Institutions, Baltimore, Maryland 21231, USA
Cancer Res 63:5234-5. 2003.... - The role of companion diagnostics in the development and use of mutation-targeted cancer therapiesNickolas Papadopoulos
Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, The Johns Hopkins Sidney Kimmel Comprehensive Cancer Center, 1650 Orleans Street, CRB1, Baltimore, MD 21231, USA
Nat Biotechnol 24:985-95. 2006..These tests can simplify the drug discovery process, make clinical trials more efficient and informative, and be used to individualize the therapy of cancer patients... - Can chromosomal instability initiate tumorigenesis?Franziska Michor
Program for Evolutionary Dynamics, Department of Organismic and Evolutionary Biology, Department of Mathematics, Harvard University, Cambridge, MA 02138, USA
Semin Cancer Biol 15:43-9. 2005..If two tumor suppressor genes have to be inactivated in rate-limiting steps, then CIN is likely to emerge before the inactivation of the first tumor suppressor gene... - Wanted: cancer bossDonald McDonald
Nature 440:978-9. 2006 - Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangementsHidewaki Nakagawa
Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio 43210, USA
Cancer Res 62:4579-82. 2002..These results allowed pathogenicity to be unambiguously assigned to the mutations and increased the sensitivity of genomic testing... - Folkman, Hunter, Massague, Vogelstein and Weinberg win 2004 Prince of Asturias AwardsJuda Folkman
Cancer Biol Ther 3:591-2. 2004 - Facultative or obligate anaerobic bacteria have the potential for multimodality therapy of solid tumoursMing Q Wei
Department of Medicine, University of Queensland, Prince Charles Hospital, Brisbane, Qld 4032, Australia
Eur J Cancer 43:490-6. 2007.... - The role of chromosomal instability in tumor initiationMartin A Nowak
Institute for Advanced Study, Princeton, NJ 08540, USA
Proc Natl Acad Sci U S A 99:16226-31. 2002..Specifically, we calculate the conditions for CIN to initiate the process of colorectal tumorigenesis before the inactivation of tumor suppressor genes... - Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnosticsKristina Lagerstedt Robinson
Department of Clinical Genetics, Karolinska University Hospital, S 17176 Stockholm, Sweden
J Natl Cancer Inst 99:291-9. 2007..The syndrome is explained by germline mutations in DNA mismatch repair (MMR) genes, and there is a need for diagnostic tools to preselect patients for genetic testing to diagnose those with HNPCC... - Dynamics of genetic instability in sporadic and familial colorectal cancerNatalia L Komarova
Institute for Advanced Study, Princeton, New Jersey, USA
Cancer Biol Ther 1:685-92. 2002..For a wide range of parameter values, we find support for the radical hypothesis that genetic instability initiates colonic tumorigenesis. We compare sporadic and hereditary forms of colorectal cancer... - Dissecting isoform selectivity of PI3K inhibitors: the role of non-conserved residues in the catalytic pocketMark Frazzetto
Australian Centre for Blood Diseases, Monash University, Melbourne, VIC 3004, Australia
Biochem J 414:383-90. 2008.... - Mutations in two short noncoding mononucleotide repeats in most microsatellite-unstable colorectal cancersTuija Hienonen
Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Finland
Cancer Res 65:4607-13. 2005..These data call for urgent and thorough large-scale evaluation of mutation frequencies in neutral short repetitive sequences in MMR-deficient tumors...
Research Grants
- MOLECULAR GENETIC ANALYSIS OF COLORECTAL CANCERBert Vogelstein; Fiscal Year: 2007..It is likely to have substantial implications for the diagnosis and treatment of cancer patients. ..