Charis Eng

Summary

Affiliation: Cleveland Clinic Foundation
Country: USA

Publications

  1. ncbi request reprint Serendipity, fate, science and leadership
    Charis Eng
    Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, Ohio 44195, USA
    Cancer Biol Ther 4:1422-5. 2005
  2. doi request reprint Targeted therapy for uveal melanoma
    Pierre L Triozzi
    Taussig Cancer Center, The Cleveland Clinic Foundation, Cleveland, OH 44195, United States
    Cancer Treat Rev 34:247-58. 2008
  3. doi request reprint Activation of AR sensitizes breast carcinomas to NVP-BEZ235's therapeutic effect mediated by PTEN and KLLN upregulation
    Yu Wang
    Corresponding Author Charis Eng, Cleveland Clinic, 9500 Euclid Avenue, NE 50, Cleveland, OH 44195
    Mol Cancer Ther 13:517-27. 2014
  4. pmc Engaging basic scientists in translational research: identifying opportunities, overcoming obstacles
    Jennifer A Hobin
    Federation of American Societies for Experimental Biology, 9650 Rockville Pike, Bethesda, MD 20814, USA
    J Transl Med 10:72. 2012
  5. pmc Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
    Joanne Kotsopoulos
    Breast Cancer Res 14:R42. 2012
  6. pmc A reinvestigation of somatic hypermethylation at the PTEN CpG island in cancer cell lines
    Luke B Hesson
    Adult Cancer Program, Lowy Cancer Research Centre and Prince of Wales Clinical School, University of New South Wales, Sydney, NSW 2052, Australia
    Biol Proced Online 14:5. 2012
  7. pmc A novel mutation in the tyrosine kinase domain of ERBB2 in hepatocellular carcinoma
    Tanios Bekaii-Saab
    Division of Hematology and Oncology, Department of Internal Medicine, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA
    BMC Cancer 6:278. 2006
  8. pmc EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis
    Antti Kokko
    Department of Medical Genetics, Molecular and Cancer Biology Research Program, P, O, Box 63, 00014 University of Helsinki, Finland
    BMC Cancer 6:145. 2006
  9. pmc Heritable clustering and pathway discovery in breast cancer integrating epigenetic and phenotypic data
    Zailong Wang
    Mathematical Biosciences Institute, The Ohio State University, 231 W, 18th Avenue, Columbus, OH 43210, USA
    BMC Bioinformatics 8:38. 2007
  10. doi request reprint Genomic alterations in tumor stroma
    Charis Eng
    Genomic Medicine Institute, Lerner Research Institute and Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
    Cancer Res 69:6759-64. 2009

Research Grants

Collaborators

Detail Information

Publications104 found, 100 shown here

  1. ncbi request reprint Serendipity, fate, science and leadership
    Charis Eng
    Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, Ohio 44195, USA
    Cancer Biol Ther 4:1422-5. 2005
  2. doi request reprint Targeted therapy for uveal melanoma
    Pierre L Triozzi
    Taussig Cancer Center, The Cleveland Clinic Foundation, Cleveland, OH 44195, United States
    Cancer Treat Rev 34:247-58. 2008
    ..Clinical trials of some of these approaches have been initiated in patients with metastatic uveal melanoma as well as in the adjuvant setting after primary therapy...
  3. doi request reprint Activation of AR sensitizes breast carcinomas to NVP-BEZ235's therapeutic effect mediated by PTEN and KLLN upregulation
    Yu Wang
    Corresponding Author Charis Eng, Cleveland Clinic, 9500 Euclid Avenue, NE 50, Cleveland, OH 44195
    Mol Cancer Ther 13:517-27. 2014
    ..Our data suggest that AR expression may be an independent predictive biomarker for response to NVP-BEZ235. AR induction could add benefit during NVP-BEZ235 treatment in patients, especially with AR(+)/ER(+) breast carcinomas...
  4. pmc Engaging basic scientists in translational research: identifying opportunities, overcoming obstacles
    Jennifer A Hobin
    Federation of American Societies for Experimental Biology, 9650 Rockville Pike, Bethesda, MD 20814, USA
    J Transl Med 10:72. 2012
    ....
  5. pmc Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
    Joanne Kotsopoulos
    Breast Cancer Res 14:R42. 2012
    ..We present an updated analysis of breastfeeding and risk of breast cancer using a large matched sample of BRCA mutation carriers...
  6. pmc A reinvestigation of somatic hypermethylation at the PTEN CpG island in cancer cell lines
    Luke B Hesson
    Adult Cancer Program, Lowy Cancer Research Centre and Prince of Wales Clinical School, University of New South Wales, Sydney, NSW 2052, Australia
    Biol Proced Online 14:5. 2012
    ..Here we present a thorough reinvestigation of the methylation status of the PTEN CpG island in DNA from colorectal, breast, ovarian, glioma, lung and haematological cancer cell lines...
  7. pmc A novel mutation in the tyrosine kinase domain of ERBB2 in hepatocellular carcinoma
    Tanios Bekaii-Saab
    Division of Hematology and Oncology, Department of Internal Medicine, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA
    BMC Cancer 6:278. 2006
    ..In our study, we sought to determine if similar respective gain-of-function EGFR and ERBB2 mutations were present in hepatoma and/or biliary cancers...
  8. pmc EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis
    Antti Kokko
    Department of Medical Genetics, Molecular and Cancer Biology Research Program, P, O, Box 63, 00014 University of Helsinki, Finland
    BMC Cancer 6:145. 2006
    ..Inactivation of the gene has been shown to correlate with progression of colorectal tumorigenesis, and somatic mutations have been reported in both colorectal and prostate tumors...
  9. pmc Heritable clustering and pathway discovery in breast cancer integrating epigenetic and phenotypic data
    Zailong Wang
    Mathematical Biosciences Institute, The Ohio State University, 231 W, 18th Avenue, Columbus, OH 43210, USA
    BMC Bioinformatics 8:38. 2007
    ..Furthermore, our likelihood-based clustering algorithm has great flexibility, allowing for incomplete epigenotype or clinical phenotype data and also permitting dependencies among variables...
  10. doi request reprint Genomic alterations in tumor stroma
    Charis Eng
    Genomic Medicine Institute, Lerner Research Institute and Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
    Cancer Res 69:6759-64. 2009
    ..These observations promise new biomarkers of prognosis and a new compartment to target therapy...
  11. doi request reprint Common alleles of predisposition in endocrine neoplasia
    Charis Eng
    Genomic Medicine Institute, Lerner Research Institute and Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Curr Opin Genet Dev 20:251-6. 2010
    ....
  12. doi request reprint Mendelian genetics of rare--and not so rare--cancers
    Charis Eng
    Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA
    Ann N Y Acad Sci 1214:70-82. 2010
    ....
  13. pmc Microenvironmental genomic alterations reveal signaling networks for head and neck squamous cell carcinoma
    Gurkan Bebek
    Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, Mailstop NE 50 Cleveland, OH 44195, USA
    J Clin Bioinforma 1:21. 2011
    ..We hypothesize that these identified alterations can point to signaling networks functioning in HNSCC epithelial-tumor and surrounding stroma (tumor microenvironment)...
  14. doi request reprint Bioethical and clinical dilemmas of direct-to-consumer personal genomic testing: the problem of misattributed equivalence
    Charis Eng
    Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Sci Transl Med 2:17cm5. 2010
    ..Despite the many challenges raised by DTC genomic testing, we are reminded that commercial interests have sometimes acted as a disruptive force or technology that drives nonconventional approaches to difficult problems...
  15. doi request reprint Disruption of transforming growth factor-beta signaling by five frequently methylated genes leads to head and neck squamous cell carcinoma pathogenesis
    Kristi L Bennett
    Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
    Cancer Res 69:9301-5. 2009
    ....
  16. ncbi request reprint Breast-cancer stromal cells with TP53 mutations and nodal metastases
    Attila Patocs
    Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland 44195, USA
    N Engl J Med 357:2543-51. 2007
    ..We hypothesized that mutational inactivation of the tumor-suppressor gene TP53 and genomic alterations in stromal cells of a tumor's microenvironment contribute to the clinical outcome...
  17. pmc Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation
    Rosemary E Teresi
    Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH, 44195, USA
    Am J Hum Genet 81:756-67. 2007
    ....
  18. ncbi request reprint A limited set of human MicroRNA is deregulated in follicular thyroid carcinoma
    Frank Weber
    Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, 9500 Euclid Avenue, NE 50, Cleveland, Ohio 44195, USA
    J Clin Endocrinol Metab 91:3584-91. 2006
    ..For the latter process, a deregulated miRNA can orchestrate the aberrant expression of several hundred target genes...
  19. doi request reprint Frequency of germline genomic homozygosity associated with cancer cases
    Guillaume Assie
    Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
    JAMA 299:1437-45. 2008
    ....
  20. pmc PTEN lipid phosphatase activity and proper subcellular localization are necessary and sufficient for down-regulating AKT phosphorylation in the nucleus in Cowden syndrome
    Xin He
    Cleveland Clinic, 9500 Euclid Avenue, NE50, Cleveland, Ohio 44195, USA
    J Clin Endocrinol Metab 97:E2179-87. 2012
    ....
  21. pmc Lifetime cancer risks in individuals with germline PTEN mutations
    Min Han Tan
    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, 9500 Euclid Avenue, NE 50, Cleveland, OH 44195, USA
    Clin Cancer Res 18:400-7. 2012
    ..We conducted the first prospective study to clarify corresponding cancer risks to shed biologic insights on human germline PTEN mutations, and to better inform current surveillance recommendations on the basis of expert opinion...
  22. pmc Total-genome analysis of BRCA1/2-related invasive carcinomas of the breast identifies tumor stroma as potential landscaper for neoplastic initiation
    Frank Weber
    Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA
    Am J Hum Genet 78:961-72. 2006
    ....
  23. ncbi request reprint Genomic instability within tumor stroma and clinicopathological characteristics of sporadic primary invasive breast carcinoma
    Koichi Fukino
    Genomic Medicine Institute, Lerner Research Institute and Taussig Cancer Center, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
    JAMA 297:2103-11. 2007
    ..That genomic alterations occur in both the epithelium and stroma of sporadic breast cancers has been documented by several groups. However, whether these microenvironmental alterations relate to clinicopathological features is unknown...
  24. pmc Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma
    Mohammed Orloff
    Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Ave, Cleveland, OH 44195, USA
    JAMA 306:410-9. 2011
    ..Finding predisposition genes may improve premorbid risk assessment, genetic counseling, and management. Genome-wide multiplatform approaches may lead to the identification of genes important in BE/EAC development...
  25. ncbi request reprint Regulation of the PTEN promoter by statins and SREBP
    Rosemary E Teresi
    Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    Hum Mol Genet 17:919-28. 2008
    ....
  26. pmc Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome
    Kristi L Bennett
    Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Ave, Cleveland, OH 44195, USA
    JAMA 304:2724-31. 2010
    ....
  27. pmc Integrative genomic analysis reveals extended germline homozygosity with lung cancer risk in the PLCO cohort
    Mohammed S Orloff
    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America
    PLoS ONE 7:e31975. 2012
    ..0001). In conclusion, differentially-distributed cTOH/aTOH genomic variants between cases and controls harbor sets of plausible differentially-expressed genes accounting for the complexity of lung-cancer predisposition...
  28. pmc Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function
    Glenn P Lobo
    Department of Pharmacology, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA
    Hum Mol Genet 18:2851-62. 2009
    ..Manipulation of ATP may represent novel therapies in tumors with such PTEN alterations...
  29. pmc Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53
    Ying Ni
    Genomic Medicine Institute, Lerner Research Institute, Howard Hughes Medical Institute Doctoral Program in Molecular Medicine, Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH 44106, USA
    Hum Mol Genet 21:300-10. 2012
    ..Together, our findings suggest the importance of considering SDHx as candidate predisposing and modifier genes for CS/CSL-related malignancy risks, and a mechanism which suggests ways of therapeutic reversal or prevention...
  30. doi request reprint The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome
    Margaret O'Malley
    Sanford R Weiss MD Center for Hereditary Colorectal Neoplasia in the Digestive Disease Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Dis Colon Rectum 55:886-92. 2012
    ..A juvenile polyposis-hereditary hemorrhagic telangiectasia overlap syndrome has previously been reported in 22% of patients with juvenile polyposis due to a SMAD4 mutation...
  31. pmc Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations
    Joanne Ngeow
    Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, Ohio 44195, USA
    J Clin Endocrinol Metab 96:E2063-71. 2011
    ..Germline PTEN and SDHx mutations and KLLN epimutation cause CS and CS-like phenotypes. Despite the established association, little is known about the incidence and clinical features of thyroid cancer found in CS/CS-like patients...
  32. pmc Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes
    Joanne Ngeow
    Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, Ohio 44195, USA
    J Clin Endocrinol Metab 97:E2320-7. 2012
    ..In contrast, less than 1% of sporadic epithelial thyroid cancer patients carry a germline PTEN mutation. Cost-efficient markers capable of shortlisting thyroid cancers for CS genetic testing would be clinically useful...
  33. pmc Nuclear PTEN levels and G2 progression in melanoma cells
    Abraham I Jacob
    Genomic Medicine Institute, Case Western Reserve University School of Medicine, Cleveland, Ohio 44195, USA
    Melanoma Res 19:203-10. 2009
    ..Taken together, our observations suggest that in melanoma, nuclear PTEN is involved in G2 progression possibly through the modulation of CDC2, opening up a new arena for investigation...
  34. pmc Transcription factor KLLN inhibits tumor growth by AR suppression, induces apoptosis by TP53/TP73 stimulation in prostate carcinomas, and correlates with cellular differentiation
    Yu Wang
    Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
    J Clin Endocrinol Metab 98:E586-94. 2013
    ..KLLN is a newly identified gene with unknown function and shares a bidirectional promoter with PTEN...
  35. pmc Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53
    Xin He
    Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Hum Mol Genet 20:80-9. 2011
    ....
  36. doi request reprint Integrated analysis reveals critical genomic regions in prostate tumor microenvironment associated with clinicopathologic phenotypes
    Shingo Ashida
    Department of Quantitative Health Sciences, Lerner Research Institute, USA
    Clin Cancer Res 18:1578-87. 2012
    ..We sought to integrate global genomic structural and expressional alterations in prostate cancer epithelium and stroma and their association with clinicopathologic features...
  37. pmc Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes
    Marcus G Pezzolesi
    Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH, 44195, USA
    Am J Hum Genet 79:923-34. 2006
    ....
  38. ncbi request reprint Consortium approach to identifying genes for Barrett's esophagus and esophageal adenocarcinoma
    Heather M Ochs-Balcom
    Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA
    Transl Res 150:3-17. 2007
    ....
  39. doi request reprint Resveratrol enhances the anti-tumor activity of the mTOR inhibitor rapamycin in multiple breast cancer cell lines mainly by suppressing rapamycin-induced AKT signaling
    Xin He
    Genomic Medicine Institute, Cleveland Clinic, OH 44195, USA
    Cancer Lett 301:168-76. 2011
    ..Thus, the resveratrol-rapamycin combination may have therapeutic value in treating breast cancer and perhaps other processes where mTOR is activated...
  40. doi request reprint GATA2 negatively regulates PTEN by preventing nuclear translocation of androgen receptor and by androgen-independent suppression of PTEN transcription in breast cancer
    Yu Wang
    Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Hum Mol Genet 21:569-76. 2012
    ....
  41. pmc AP-2alpha induces epigenetic silencing of tumor suppressive genes and microsatellite instability in head and neck squamous cell carcinoma
    Kristi L Bennett
    Genomic Medicine Institute, Lerner Research Institute and Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, United States of America
    PLoS ONE 4:e6931. 2009
    ..Therefore, we investigated the potential for AP-2alpha to target methylation to additional genes that would be relevant to HNSCC pathogenesis...
  42. pmc Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes
    Ying Ni
    Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    Am J Hum Genet 83:261-8. 2008
    ..SDH testing should be considered for germline PTEN mutation-negative CS/CS-like individuals, especially in the setting of breast, thyroid, and/or renal cancers...
  43. pmc ATP modulates PTEN subcellular localization in multiple cancer cell lines
    Glenn P Lobo
    Genomic Medicine Institute, Cleveland Clinic Foundation, 9500 Euclid Ave, NE 50, Cleveland, OH 44195, USA
    Hum Mol Genet 17:2877-85. 2008
    ..To our knowledge, this is the first report that describes a regulation of PTEN subcellular localization that is not specific to one cell line or tissue type, but appears to be common across a variety of cell lineages...
  44. pmc Microbiomic subprofiles and MDR1 promoter methylation in head and neck squamous cell carcinoma
    Gurkan Bebek
    Genomic Medicine Institute, Lerner Research Institute, Cleveland, OH 44195, USA
    Hum Mol Genet 21:1557-65. 2012
    ....
  45. ncbi request reprint Tumor suppressor activity of CCAAT/enhancer binding protein alpha is epigenetically down-regulated in head and neck squamous cell carcinoma
    Kristi L Bennett
    Department of Molecular Genetics, The Comprehensive Cancer Center, Ohio State University, Columbus, Ohio, USA
    Cancer Res 67:4657-64. 2007
    ..In conclusion, we showed for the first time not only that C/EBPalpha has tumor suppressor activity in HNSCC, but also that it is down-regulated by DNA promoter methylation...
  46. pmc Specific kinesin expression profiles associated with taxane resistance in basal-like breast cancer
    Min Han Tan
    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, 9500 Euclid Avenue NE 50, Cleveland, OH 44195, USA
    Breast Cancer Res Treat 131:849-58. 2012
    ..Our results suggest a novel approach for drug development to overcome taxane resistance in breast cancer through concurrent or sequential use of kinesin inhibitors...
  47. doi request reprint Androgen receptor-induced tumor suppressor, KLLN, inhibits breast cancer growth and transcriptionally activates p53/p73-mediated apoptosis in breast carcinomas
    Yu Wang
    Genomic Medicine Institute, Cleveland, OH 44195, USA
    Hum Mol Genet 22:2263-72. 2013
    ..Our observations suggest that KLLN might be used as a potential prognostic marker and novel therapy target for breast carcinomas...
  48. pmc Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps
    Joanne Ngeow
    Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
    Gastroenterology 144:1402-9, 1409.e1-5. 2013
    ....
  49. pmc Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center
    Brandie Heald
    Cleveland Clinic, Cleveland, OH 44195, USA
    J Clin Oncol 31:1336-40. 2013
    ..No studies report how this process is implemented on a health system-wide basis...
  50. doi request reprint Germline Compound Heterozygous Poly-glutamine Deletion in USF3 May Be Involved in Predisposition to Heritable and Sporadic Epithelial Thyroid Carcinoma
    Ying Ni
    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195
    Hum Mol Genet . 2016
    ....
  51. doi request reprint HPV status-independent association of alcohol and tobacco exposure or prior radiation therapy with promoter methylation of FUSSEL18, EBF3, IRX1, and SEPT9, but not SLC5A8, in head and neck squamous cell carcinomas
    Kristi L Bennett
    Genomic Medicine Institute Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Genes Chromosomes Cancer 49:319-26. 2010
    ....
  52. pmc Resveratrol regulates the PTEN/AKT pathway through androgen receptor-dependent and -independent mechanisms in prostate cancer cell lines
    Yu Wang
    Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA
    Hum Mol Genet 19:4319-29. 2010
    ..More importantly, for the first time, our study demonstrates the mechanism by which AR regulates PTEN expression at the transcription level, indicating the direct link between a nuclear receptor and the PI3K/AKT pathway...
  53. pmc Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers
    Brandie Heald
    Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
    Gastroenterology 139:1927-33. 2010
    ..The association of benign and malignant GI neoplasias with CS remains debatable. Our goal is to describe the GI phenotype in a prospective series of PTEN mutation carriers...
  54. ncbi request reprint Gastroesophageal reflux symptoms in patients with adenocarcinoma of the esophagus or cardia
    Amitabh Chak
    Division of Gastroenterology, University Hospitals of Cleveland and Ireland Cancer Center, Cleveland, Ohio 44106, USA
    Cancer 107:2160-6. 2006
    ....
  55. pmc Linkage disequilibrium between two high-frequency deletion polymorphisms: implications for association studies involving the glutathione-S transferase (GST) genes
    Yongzhong Zhao
    Department of Molecular Genetics, Cleveland Clinic, Cleveland, OH, USA
    PLoS Genet 5:e1000472. 2009
    ..These results show a complex genomic organization and unexpected biological functions of CNVs within segmental duplications and emphasize the importance of detailed structural characterization for disease association studies...
  56. pmc Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer
    Ying Ni
    Genomic Medicine InstituteLerner Research InstituteTaussig Cancer InstituteStanley Shalom Zielony Nursing InstituteCleveland Clinic, 9500 Euclid Avenue, NE 50, Cleveland, Ohio 44195, USADivision of Medical OncologyNational Cancer Center, Singapore 169610, SingaporeDivisions of Human GeneticsEndocrinology and MetabolismDepartment of MedicineComprehensive Cancer CenterArthur G James Cancer Hospital and Richard G Solove Research Institute, The Ohio State University, Columbus, Ohio 43210, USADepartments of Genetics and Genome SciencesEpidemiology and BiostatisticsCASE Comprehensive Cancer CenterCase Western Reserve University, Cleveland, Ohio 44116, USA Genomic Medicine InstituteLerner Research InstituteTaussig Cancer InstituteStanley Shalom Zielony Nursing InstituteCleveland Clinic, 9500 Euclid Avenue, NE 50, Cleveland, Ohio 44195, USADivision of Medical OncologyNational Cancer Center, Singapore 169610, SingaporeDivisions of Human GeneticsEndocrinology and MetabolismDepartment of MedicineComprehensive Cancer CenterArthur G James Cancer Hospital and Richard G Solove Research Institute, The Ohio State University, Columbus, Ohio 43210, USADepartments of Genetics and Genome SciencesEpidemiology and BiostatisticsCASE Comprehensive Cancer CenterCase Western Reserve University, Cleveland, Ohio 44116, USA Genomic Medicine InstituteLerner Research InstituteTaussig Cancer InstituteStanley Shalom Zielony Nursing InstituteCleveland Clinic, 9500 Euclid Avenue, NE 50, Cleveland, Ohio 44195, USADivision of Medical OncologyNational Cancer Center, Singapore 169610, SingaporeDivisions of Human GeneticsEndocrinology and MetabolismDepartment of MedicineComprehensive Cancer CenterArthur G James Cancer Hospital and Richard G Solove Research Institute, The Ohio State University, Columbus, Ohio 43210, USADepartments of Genetics and Genome SciencesEpidemiology and BiostatisticsCASE Comprehensive Cancer CenterCase Western Reserve University, Cleveland, Ohio 44116, USA
    Endocr Relat Cancer 22:121-30. 2015
    ..Therefore, we conclude that both germline and somatic SDHx mutations/variants occur in sporadic DTC but are very rare in sporadic breast cancer, and overall loss of SDHx gene expression is a signature of DTC. ..
  57. ncbi request reprint Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome
    Marcus G Pezzolesi
    Genomic Medicine Institute, Cleveland Clinic Foundation, 9500 Euclid Avenue, NE 50, Cleveland, OH 44195, USA
    Hum Mol Genet 16:1058-71. 2007
    ....
  58. ncbi request reprint Nuclear localization of PTEN is regulated by Ca(2+) through a tyrosil phosphorylation-independent conformational modification in major vault protein
    Takeo Minaguchi
    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic Foundation, Case Western Reserve University School of Medicine, Cleveland, Ohio 44195, USA
    Cancer Res 66:11677-82. 2006
    ..Collectively, our data present evidence of a novel crosstalk between the Ca(2+) signaling-mediated regulation of the cell cycle and MVP-mediated nuclear PTEN localization and function...
  59. ncbi request reprint Differential expression of novel naturally occurring splice variants of PTEN and their functional consequences in Cowden syndrome and sporadic breast cancer
    Shipra Agrawal
    Genomic Medicine Institute, Cleveland Clinic Lerner College of Medicine, 9500 Euclid Avenue, Mailcode NE 50, Cleveland, OH 44195, USA
    Hum Mol Genet 15:777-87. 2006
    ....
  60. pmc Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity
    Xin He
    Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Cancer Res 73:3029-40. 2013
    ..These results provide novel insights into the cellular functions of PTEN and reveal molecular mechanisms whereby PTEN mutations increase proteasome activity and lead to neurologic phenotypes...
  61. doi request reprint Implementation of tumor testing for lynch syndrome in endometrial cancers at a large academic medical center
    Jessica Moline
    Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Gynecol Oncol 130:121-6. 2013
    ..Here we describe our experience implementing a screening program for endometrial cancers...
  62. pmc cgaTOH: extended approach for identifying tracts of homozygosity
    Li Zhang
    Department of Quantitative Health Sciences, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America
    PLoS ONE 8:e57772. 2013
    ..This method identifies various patterned clusters of SNPs demonstrating extended homozygosity, thus one can observe different aspects of the multi-faceted characteristics of TOHs...
  63. pmc Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes
    Mohammed S Orloff
    Genomic Medicine Institute and Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Am J Hum Genet 92:76-80. 2013
    ..2%) AKT1 mutations. These mutations result in significantly increased P-Thr308-AKT and increased cellular PIP3. Our observations suggest that PIK3CA and AKT1 are CS susceptibility genes...
  64. pmc Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome
    Marta S Sarquis
    Genomic Medicine Institute, Cleveland, OH 44195, USA
    Am J Hum Genet 79:23-30. 2006
    ....
  65. pmc Differential expression of PTEN-targeting microRNAs miR-19a and miR-21 in Cowden syndrome
    Marcus G Pezzolesi
    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    Am J Hum Genet 82:1141-9. 2008
    ....
  66. pmc Demographic and clinical correlates of autism symptom domains and autism spectrum diagnosis
    Thomas W Frazier
    Cleveland Clinic, USA
    Autism 18:571-82. 2014
    ..Social communication and interaction and restricted/repetitive behavior symptoms may provide incremental validity in the diagnosis of autism spectrum disorder...
  67. ncbi request reprint Microenvironmental genomic alterations and clinicopathological behavior in head and neck squamous cell carcinoma
    Frank Weber
    Genomic Medicine Institute and Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA
    JAMA 297:187-95. 2007
    ..Therefore, the apparently nonmalignant stroma surrounding the tumor epithelium can acquire genomic alterations and contribute to cancer initiation and progression...
  68. ncbi request reprint A time study of cancer genetic counselors using a genetic counselor-only patient care model versus a traditional combined genetic counselor plus medical geneticist care model
    Brandie Heald
    From the aGenomic Medicine Institute bTaussig Cancer Institute and cSanford R Weiss M D Center for Hereditary Colorectal Cancer, Digestive Diseases Institute, Cleveland Clinic, Cleveland, Ohio dDepartments of Internal Medicine and Human Genetics and eCardiovascular Center, University of Michigan Health System, Ann Arbor, Michigan fGeneDx, Gaithersburg, Maryland gStanley Shalom Zielony Institute of Nursing Excellence, Cleveland Clinic, Cleveland, Ohio and hDepartment of Genetics and Genome Sciences, Case Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio
    J Natl Compr Canc Netw 11:1076-81. 2013
    ..These data suggest that GCO visits result in better use of GCs' time, without a trade-off in number of patient-related activities. ..
  69. doi request reprint Defining phenotypes and cancer risk in hyperplastic polyposis syndrome
    Matthew F Kalady
    Department of Colorectal Surgery, Digestive Disease Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
    Dis Colon Rectum 54:164-70. 2011
    ..We performed this review of a large series of patients who presented with multiple serrated polyps to look for clinical patterns that may confirm our hypothesis...
  70. pmc Chromosome 3 status in uveal melanoma: a comparison of fluorescence in situ hybridization and single-nucleotide polymorphism array
    Arun D Singh
    Department of Ophthalmic Oncology, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
    Invest Ophthalmol Vis Sci 53:3331-9. 2012
    ..To compare fluorescence in situ hybridization (FISH) using a centromeric probe for chromosome 3 (CEP3) and 3p26 locus-specific probe with single-nucleotide polymorphism array (SNP-A) analysis in the detection of high-risk uveal melanoma...
  71. pmc Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals
    Judith A Hobert
    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA
    Genet Med 14:616-9. 2012
    ..We hypothesized that succinate accumulation may be common among individuals with SDH variants/mutations and those with PTEN mutations...
  72. pmc Prospective comparison of family medical history with personal genome screening for risk assessment of common cancers
    Brandie Heald
    Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Eur J Hum Genet 20:547-51. 2012
    ..0001). FHRA and PGS may be complementary tools for cancer risk assessment. However, evaluation of family history remains the standard to evaluate an individual's cancer risk until further research...
  73. ncbi request reprint Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma
    Kevin M Zbuk
    Genomic Medicine Institute at the Cleveland Clinic, Cleveland, OH, USA
    Nat Clin Pract Oncol 4:608-12. 2007
    ..There was no family history of malignancy. Past medical history includes uterine leiomyoma and fibrocystic breast disease. Physical examination revealed macrocephaly and papillomatous papules...
  74. doi request reprint The nuclear affairs of PTEN
    Sarah M Planchon
    Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    J Cell Sci 121:249-53. 2008
    ..Nuclear PTEN plays a role in chromosome stability, DNA repair, cell cycle arrest and cellular stability. The balance between these functions is an important factor in determining whether a cell remains benign or becomes neoplastic...
  75. pmc SNP arrays in heterogeneous tissue: highly accurate collection of both germline and somatic genetic information from unpaired single tumor samples
    Guillaume Assie
    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
    Am J Hum Genet 82:903-15. 2008
    ..SOMATICs is a ready-to-use open-source program that integrates all of these features into a simple format, comprehensively describing each chromosomal event...
  76. ncbi request reprint High frequency of loss of heterozygosity in imprinted, compared with nonimprinted, genomic regions in follicular thyroid carcinomas and atypical adenomas
    Marta S Sarquis
    Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, Ohio 44195, USA
    J Clin Endocrinol Metab 91:262-9. 2006
    ....
  77. ncbi request reprint Pilot study of rosiglitazone therapy in women with breast cancer: effects of short-term therapy on tumor tissue and serum markers
    Lisa D Yee
    Division of Surgical Oncology, Department of Surgery, The Ohio State University, Columbus, Ohio, USA
    Clin Cancer Res 13:246-52. 2007
    ..The purpose of this study was to test the hypothesis that PPARgamma ligand therapy might inhibit tumor growth and progression in human breast cancer...
  78. doi request reprint Multiple endocrine neoplasia type 2: an overview
    Jessica Moline
    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA
    Genet Med 13:755-64. 2011
    ..This overview summarizes the clinical description of multiple endocrine neoplasia type 2, diagnosis and testing strategies, management and surveillance, and differential diagnosis for other related syndromes...
  79. pmc Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model
    Jessica L Mester
    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Eur J Hum Genet 19:763-8. 2011
    ..Clinicians should consider germline PTEN testing at an early point in the diagnostic work-up for patients with extreme macrocephaly...
  80. doi request reprint BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia
    Christina M Rigelsky
    Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
    Am J Med Genet A 146:2551-6. 2008
    ..It adds further weight to a common molecular pathogenesis in PAH and HHT, and highlights that BMPR2 gene analysis is indicated in patients affected with both HHT and PAH...
  81. pmc Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome
    Jessica L Mester
    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
    Urology 79:1187.e1-7. 2012
    ..To formally study the prevalence and histologic classification of renal cell carcinoma (RCC) in a series of patients with PTEN hamartoma tumor syndrome (PHTS)...
  82. pmc Germline and somatic DNA methylation and epigenetic regulation of KILLIN in renal cell carcinoma
    Kristi L Bennett
    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
    Genes Chromosomes Cancer 50:654-61. 2011
    ....
  83. ncbi request reprint Cowden syndrome
    Shanna Gustafson
    Center for Personalized Genetic Healthcare, Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    Semin Oncol 34:428-34. 2007
    ....
  84. ncbi request reprint Cancer phenomics: RET and PTEN as illustrative models
    Kevin M Zbuk
    Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA
    Nat Rev Cancer 7:35-45. 2007
    ....
  85. doi request reprint Update on the molecular diagnosis of endocrine tumors: toward -omics-based personalized healthcare?
    Frank Weber
    Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, NE 50, Cleveland, Ohio 44195, USA
    J Clin Endocrinol Metab 93:1097-104. 2008
    ..This update focuses on two examples of endocrine neoplasias, those of the thyroid and of the adrenal, and discusses recent advances in germline and somatic genetics and genomics, as they relate to clinical application...
  86. doi request reprint Circulating tumor cells in uveal melanoma
    Virginia Torres
    Taussig Cancer Institute, Cleveland Clinic Foundation, Ohio, USA
    Future Oncol 7:101-9. 2011
    ..However, more research on the biology of uveal melanoma as well as improvements upon the current technologies are needed...
  87. ncbi request reprint Long-term outcome in a patient with pulmonary hypertension and hereditary hemorrhagic telangiectasia
    Omar A Minai
    Department of Pulmonary, Allergy, and Critical Care Medicine, A90, Cleveland Clinic, 9500 Euclid Ave, Cleveland, OH 44195, USA
    Chest 131:984-7. 2007
    ..To our knowledge, this case represents only the second with a 10-year follow-up reported and demonstrates that aggressive therapy can lead to long-term improvement in clinical parameters and survival...
  88. doi request reprint Autism spectrum disorders as a qualitatively distinct category from typical behavior in a large, clinically ascertained sample
    Thomas W Frazier
    The Cleveland Clinic, OH 44195, USA
    Assessment 17:308-20. 2010
    ..The identified category was associated with external indicators of disability, supporting its validity. Results indicated that ASD is best characterized as a category, distinct from typical behavior within ASD-affected families...
  89. ncbi request reprint Increased PTEN expression due to transcriptional activation of PPARgamma by Lovastatin and Rosiglitazone
    Rosemary E Teresi
    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    Int J Cancer 118:2390-8. 2006
    ....
  90. ncbi request reprint Hamartomatous polyposis syndromes
    Kevin M Zbuk
    Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Nat Clin Pract Gastroenterol Hepatol 4:492-502. 2007
    ....
  91. ncbi request reprint Variable expression of coxsackie-adenovirus receptor in thyroid tumors: implications for adenoviral gene therapy
    Derek K Marsee
    Medical Scientist Program, The Ohio State University, Columbus, Ohio, USA
    Thyroid 15:977-87. 2005
    ..Our study warrants a functional method to evaluate adenoviral infectivity should be developed and instituted prior to clinical trials of adenoviral gene therapy in patients with advanced thyroid cancer...
  92. ncbi request reprint Predicting response to EGFR-tyrosine kinase inhibitors among diverse ancestries: just way too polymorphic
    Kevin M Zbuk
    Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA
    Cancer Biol Ther 6:112-5. 2007
  93. ncbi request reprint Combined total genome loss of heterozygosity scan of breast cancer stroma and epithelium reveals multiplicity of stromal targets
    Koichi Fukino
    Clinical Cancer Genetics Program, Division of Human Cancer Genetics, Department of Molecular Virology, Immunology, and Medical Genetics, School of Public Health, The Ohio State University, Columbus, Ohio, USA
    Cancer Res 64:7231-6. 2004
    ..Genetic alterations in stroma did not mimic those in epithelium, but they could play a different and parallel role in carcinogenesis and tumor progression, probably by modifying some features specific to breast cancer...
  94. pmc Mammalian target of rapamycin (mTOR) regulates cellular proliferation and tumor growth in urothelial carcinoma
    Donna E Hansel
    Department of Anatomic Pathology, Cleveland Clinic, Cleveland, Ohio, USA
    Am J Pathol 176:3062-72. 2010
    ..01) compared with vehicle-injected mice. These findings indicate that mTOR pathway activation frequently occurs in UCC and that mTOR inhibition may be a potential means to reduce UCC growth...
  95. pmc A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands
    Min Han Tan
    Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Am J Hum Genet 88:42-56. 2011
    ..We present the first evidence-based clinical practice model to select patients for genetics referral and PTEN mutation testing, further supported biologically by protein correlation...
  96. doi request reprint PTEN hamartoma tumor syndrome: an overview
    Judith A Hobert
    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
    Genet Med 11:687-94. 2009
    ....
  97. ncbi request reprint p53 down-regulates phosphatase and tensin homologue deleted on chromosome 10 protein stability partially through caspase-mediated degradation in cells with proteasome dysfunction
    Yufang Tang
    Genomic Medicine Institute, Cleveland Clinic Foundation, OH 44195, USA
    Cancer Res 66:6139-48. 2006
    ..Our study sheds some light on the mechanisms that regulate PTEN protein stability, which is important to fully elucidate to comprehend the broad neoplastic manifestations of Cowden syndrome/Bannayan-Riley-Ruvalcaba and sporadic cancers...
  98. ncbi request reprint SNP'ing at nasopharyngeal cancer susceptibility: for whom the bell TOLLs
    Micheala A Aldred
    Genomic Medicine Institute, Lerner Research Institute and Taussig Cancer Center, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
    Cancer Biol Ther 5:1292-3. 2006
  99. ncbi request reprint Expression of vascular endothelial growth factor in uveal melanoma is independent of 6p21-region copy number
    Mohamed H Abdel-Rahman
    Department of Ophthalmology, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA
    Clin Cancer Res 11:73-8. 2005
    ..The aim of the current study is to identify the frequency of copy number alteration in the 6p21 region and its correlation with the expression of VEGF in uveal melanoma...
  100. doi request reprint Testicular microlithiasis: recent advances in understanding and management
    Min Han Tan
    Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Nat Rev Urol 8:153-63. 2011
    ..The role of testicular microlithiasis in the clinical consideration of testicular biopsy is discussed in the context of the apparently healthy individual, the individual with TGCT and the individual with TDS...
  101. ncbi request reprint Loss of expression of protein kinase a regulatory subunit 1alpha in pigmented epithelioid melanocytoma but not in melanoma or other melanocytic lesions
    Artur Zembowicz
    Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA
    Am J Surg Pathol 31:1764-75. 2007
    ..Loss of expression of R1alpha offers a useful diagnostic test that helps to distinguish PEM from lesions that mimic it histologically...

Research Grants2

  1. Genetic Etiologies of Esophageal Barrett's and Cancer
    Charis Eng; Fiscal Year: 2003
    ..This might facilitate molecular diagnostics and early prediction as well as targeted surveillance and prophylaxis. ..
  2. RET RECEPTOR POLYMORPHISMS & HIRSCHSPRUNG DISEASE
    Charis Eng; Fiscal Year: 2004
    ..Finally variants found to be associated with disease status will be tested functionally at the transcript, protein and cell biological level. ..