Charis Eng

Summary

Affiliation: The Ohio State University
Country: USA

Publications

  1. ncbi 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
  2. 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
  3. ncbi Genetic and clinical investigation of pheochromocytoma: a 22-year experience, from Freiburg, Germany to international effort
    Birke Bausch
    Department of Nephrology, Albert Ludwigs University, Freiburg, Germany
    Ann N Y Acad Sci 1073:122-37. 2006
  4. ncbi Role of PTEN, a lipid phosphatase upstream effector of protein kinase B, in epithelial thyroid carcinogenesis
    Charis Eng
    Clinical Cancer Genetics and Human Cancer Genetics Programs, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, Ohio 43210, USA
    Ann N Y Acad Sci 968:213-21. 2002
  5. pmc Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway
    Xiao Ping Zhou
    Clinical Cancer Genetics Program, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH 43210, USA
    Am J Hum Genet 73:404-11. 2003
  6. pmc Activator protein 2 alpha (AP2alpha) suppresses 42 kDa C/CAAT enhancer binding protein alpha (p42(C/EBPalpha)) in head and neck squamous cell carcinoma
    Kristi L Bennett
    Department of Molecular Genetics, Division of Human Cancer Genetics, The Ohio State University, Columbus, OH, USA
    Int J Cancer 124:1285-92. 2009
  7. ncbi 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
  8. ncbi Nuclear-cytoplasmic partitioning of phosphatase and tensin homologue deleted on chromosome 10 (PTEN) differentially regulates the cell cycle and apoptosis
    Ji Hyun Chung
    Clinical Cancer Genetics Program, Comprehensive Cancer Center, Ohio State University, Columbus, USA
    Cancer Res 65:8096-100. 2005
  9. ncbi Silencing of the maternally imprinted tumor suppressor ARHI contributes to follicular thyroid carcinogenesis
    Frank Weber
    Human Cancer Genetics Program, The Ohio State University, Columbus, Ohio 43210, USA
    J Clin Endocrinol Metab 90:1149-55. 2005
  10. ncbi The ERK1/2 pathway modulates nuclear PTEN-mediated cell cycle arrest by cyclin D1 transcriptional regulation
    Ji Hyun Chung
    Human Cancer Genetics Program, Comprehensive Cancer Center, Department of Molecular and Cellular Biochemistry, Division of Human Genetics, The Ohio State University, Columbus, USA
    Hum Mol Genet 15:2553-9. 2006

Collaborators

Detail Information

Publications87

  1. ncbi 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...
  2. 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
    ....
  3. ncbi Genetic and clinical investigation of pheochromocytoma: a 22-year experience, from Freiburg, Germany to international effort
    Birke Bausch
    Department of Nephrology, Albert Ludwigs University, Freiburg, Germany
    Ann N Y Acad Sci 1073:122-37. 2006
    ..We differentiated distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. Finally, we identified predictors and prevalence of paraganglioma syndromes associated with mutations of the SDHC gene...
  4. ncbi Role of PTEN, a lipid phosphatase upstream effector of protein kinase B, in epithelial thyroid carcinogenesis
    Charis Eng
    Clinical Cancer Genetics and Human Cancer Genetics Programs, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, Ohio 43210, USA
    Ann N Y Acad Sci 968:213-21. 2002
    ..Ectopic expression studies in vitro have borne out the importance of PTEN in the pathogenesis of epithelial thyroid neoplasias...
  5. pmc Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway
    Xiao Ping Zhou
    Clinical Cancer Genetics Program, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH 43210, USA
    Am J Hum Genet 73:404-11. 2003
    ..These data suggest that patients with BRRS and CS without PCR-detected intragenic PTEN mutations be offered clinical deletion analysis and promoter-mutation analysis, respectively...
  6. pmc Activator protein 2 alpha (AP2alpha) suppresses 42 kDa C/CAAT enhancer binding protein alpha (p42(C/EBPalpha)) in head and neck squamous cell carcinoma
    Kristi L Bennett
    Department of Molecular Genetics, Division of Human Cancer Genetics, The Ohio State University, Columbus, OH, USA
    Int J Cancer 124:1285-92. 2009
    ..Interestingly, silencing AP2alpha by shRNA increases the antiproliferative isoform of C/EBPalpha (p42(C/EBPalpha)). Furthermore, growth analysis revealed that these 2 isoforms yield very different proliferative properties in HNSCC...
  7. ncbi 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...
  8. ncbi Nuclear-cytoplasmic partitioning of phosphatase and tensin homologue deleted on chromosome 10 (PTEN) differentially regulates the cell cycle and apoptosis
    Ji Hyun Chung
    Clinical Cancer Genetics Program, Comprehensive Cancer Center, Ohio State University, Columbus, USA
    Cancer Res 65:8096-100. 2005
    ..Our observations show that nuclear-cytoplasmic partitioning differentially regulates the cell cycle and apoptosis and, in this manner, provide further evidence that nuclear import of PTEN should play a role in carcinogenesis...
  9. ncbi Silencing of the maternally imprinted tumor suppressor ARHI contributes to follicular thyroid carcinogenesis
    Frank Weber
    Human Cancer Genetics Program, The Ohio State University, Columbus, Ohio 43210, USA
    J Clin Endocrinol Metab 90:1149-55. 2005
    ....
  10. ncbi The ERK1/2 pathway modulates nuclear PTEN-mediated cell cycle arrest by cyclin D1 transcriptional regulation
    Ji Hyun Chung
    Human Cancer Genetics Program, Comprehensive Cancer Center, Department of Molecular and Cellular Biochemistry, Division of Human Genetics, The Ohio State University, Columbus, USA
    Hum Mol Genet 15:2553-9. 2006
    ..These results provide further evidence that nuclear PTEN plays a role through cell cycle suppression functions in regulating carcinogenesis...
  11. ncbi Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis
    Kevin Sweet
    Clinical Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, USA
    JAMA 294:2465-73. 2005
    ..Assigning a syndromic diagnosis is important because it guides management, especially surveillance and prophylactic surgery...
  12. ncbi Caveolin-1 and caveolin-2,together with three bone morphogenetic protein-related genes, may encode novel tumor suppressors down-regulated in sporadic follicular thyroid carcinogenesis
    Micheala A Aldred
    Department of Molecular Virology, Immunology, and Medical Genetics, The Ohio State University, Columbus, Ohio 43210, USA
    Cancer Res 63:2864-71. 2003
    ..PTC and anaplastic thyroid carcinomas did not show significant down-regulation, and thus, caveolin-1 may become a useful molecular marker to differentiate the various histologies of thyroid malignancies...
  13. pmc Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults
    Xiao Ping Zhou
    Clinical Cancer Genetics and Human Cancer Genetics Programs, Comprehensive Cancer Center, and the Division of Human Genetics, Department of Internal Medicine, Columbus, OH 43210, USA
    Am J Hum Genet 73:1191-8. 2003
    ..Individuals with LDD, even without apparent CS features, should be counseled as in CS...
  14. ncbi Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) has nuclear localization signal-like sequences for nuclear import mediated by major vault protein
    Ji Hyun Chung
    Clinical Cancer Genetics Program, Human Cancer Genetics Program, Comprehensive Cancer Center, Columbus, Ohio 43210, USA
    Cancer Res 65:4108-16. 2005
    ..Further, we show that this MVP-mediated nuclear import is independent of PTEN phosphorylation and of the lipid and protein phosphatase activities of PTEN...
  15. ncbi Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN
    Shipra Agrawal
    Clinical Cancer Genetics Program, Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA
    Hum Mol Genet 14:2459-68. 2005
    ....
  16. ncbi Genetic classification of benign and malignant thyroid follicular neoplasia based on a three-gene combination
    Frank Weber
    Clinical Cancer Genetics Program, Department of Internal Medicine, The Ohio State University, Columbus, Ohio 43210, USA
    J Clin Endocrinol Metab 90:2512-21. 2005
    ..Three-gene profiling of thyroid nodules can accurately predict the diagnosis of FTC and FA with high sensitivity and specificity, thus identifying promising targets for further investigation to ultimately improve preoperative diagnosis...
  17. pmc A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing
    Xiao Ping Zhou
    Clinical Cancer Genetics and Human Cancer Genetics Programs, The Ohio State University, 420 W 12th Avenue, Columbus, OH 43210, USA
    J Mol Diagn 4:114-7. 2002
    ..Due to its location immediately upstream of the splicing site of exon 8, this polymorphism could be mistaken for a deleterious mutation in the PTEN...
  18. ncbi Mapping geographic zones of cancer risk with epigenetic biomarkers in normal breast tissue
    Pearlly S Yan
    Department of Hematology and Oncology, Comprehensive Cancer Center, College of Medicine and Public Health, The Ohio State University, Columbus, Ohio 43210, USA, and Department of Pathology, Addenbrooks Hospital, Cambridge, UK
    Clin Cancer Res 12:6626-36. 2006
    ..The aim of this study was to determine DNA methylation in histologically normal tissues from multiple geographic zones adjacent to primary breast tumors...
  19. ncbi Papillary and follicular thyroid carcinomas show distinctly different microarray expression profiles and can be distinguished by a minimum of five genes
    Micheala A Aldred
    Human Cancer Genetics Program, The Ohio State University, Columbus, OH 43210, USA
    J Clin Oncol 22:3531-9. 2004
    ..In this study, we sought to combine our data sets to shed light on the similarities and differences between these tumor types...
  20. ncbi High frequency of submicroscopic hemizygous deletion is a major mechanism of loss of expression of PTEN in uveal melanoma
    Mohamed H Abdel-Rahman
    Department of Ophthalmology, The Ohio State University, Columbus, USA
    J Clin Oncol 24:288-95. 2006
    ..Our aim was to determine the frequency and clinical significance of PTEN alterations in uveal melanomas...
  21. ncbi Frequent somatic mutations in PTEN and TP53 are mutually exclusive in the stroma of breast carcinomas
    Keisuke Kurose
    Comprehensive Cancer Center, and the Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, Ohio 43210, USA
    Nat Genet 32:355-7. 2002
    ..Mutations in TP53 and PTEN are mutually exclusive in either compartment. In contrast, mutations in WFDC1 (16q24, encoding WAP four-disulfide core domain 1) occur with low frequency in the stroma...
  22. ncbi BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levels
    Kristin A Waite
    Clinical Cancer Genetics Program, Comprehensive Cancer Center, Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH, 43210, USA
    Hum Mol Genet 12:679-84. 2003
    ..This opens up a new mode of regulating PTEN activity to be investigated further and may explain why BMPR1A can act as a minor susceptibility gene for PTEN mutation negative Cowden syndrome...
  23. ncbi PTEN: one gene, many syndromes
    Charis Eng
    Clinical Cancer Genetics Program and Human Cancer Genetics Program, Comprehensive Cancer Center, Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, Ohio 43210, USA
    Hum Mutat 22:183-98. 2003
    ..Further functional work could reveal more effective means of molecular-directed therapy and prevention...
  24. ncbi 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...
  25. pmc Allele-specific tumor spectrum in pten knockin mice
    Hui Wang
    Department of Molecular Genetics, College of Biological Sciences, Comprehensive Cancer Center, Ohio State University, Columbus, OH 43210, USA
    Proc Natl Acad Sci U S A 107:5142-7. 2010
    ..These data demonstrate that the variable tumor phenotypes observed in patients with Cowden and BRR syndromes can be attributed to specific mutations in PTEN that alter protein function through distinct mechanisms...
  26. pmc Frequency of germline PTEN mutations in differentiated thyroid cancer
    Rebecca Nagy
    Division of Human Genetics, The Ohio State University Medical Center and Comprehensive Cancer Center, Columbus, Ohio 43240, USA
    Thyroid 21:505-10. 2011
    ..These results suggest that by adding head circumference to the clinical assessment, thyroid cancer specialists can more effectively identify patients needing referral for cancer genetic services...
  27. 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...
  28. ncbi Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma
    Sarah R McWhinney
    Clinical Cancer Genetics Program, Comprehensive Cancer Center, Department of Molecular Genetics, The Ohio State University 420 West 12th Avenue, Suite 690 TMRF, Columbus, Ohio 43210, USA
    J Clin Endocrinol Metab 89:5694-9. 2004
    ..Thus, including SDHB and SDHD deletion analysis could increase gene-testing sensitivity for PGL patients, which would aid in genetic counseling and management of patients and families...
  29. ncbi Phytoestrogen exposure elevates PTEN levels
    Kristin A Waite
    Clinical Cancer Genetics Program, Comprehensive Cancer Center, Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH 43210, USA
    Hum Mol Genet 14:1457-63. 2005
    ..More importantly, it provides a novel target for the regulation of PTEN expression and suggests that dietary changes may be adjunctive to traditional preventive and therapeutic strategies against breast cancer...
  30. pmc PTEN mutational spectra, expression levels, and subcellular localization in microsatellite stable and unstable colorectal cancers
    Xiao Ping Zhou
    Clinical Cancer Genetics Program, Comprehensive Cancer Center and the Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, Ohio 43210, USA
    Am J Pathol 161:439-47. 2002
    ..Finally, our data also suggest that epigenetic inactivation of PTEN, including differential subcellular compartmentalization, occurs in CRCs...
  31. doi Direct evidence for epithelial-mesenchymal transitions in breast cancer
    ANTHONY J TRIMBOLI
    Department of Molecular Genetics, College of Medicine, The Ohio State University, Columbus, OH 43210, USA
    Cancer Res 68:937-45. 2008
    ..These data provide the first direct evidence for EMT in breast cancer and suggest that its development is favored by myc-initiated events...
  32. ncbi 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...
  33. ncbi Highly penetrant hereditary cancer syndromes
    Rebecca Nagy
    Clinical Cancer Genetics Program, Comprehensive Cancer Center, Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus 43221, USA
    Oncogene 23:6445-70. 2004
    ..We discuss the prevalence, penetrance, and tumour spectrum associated with these syndromes, as well as their underlying genetic defects...
  34. doi Head circumference in the clinical detection of PTEN hamartoma tumor syndrome in a clinic population at high-risk of breast cancer
    Stacey Shiovitz
    Division of Molecular Medicine and Genetics, Department of Internal Medicine, University of Michigan, 1524 BSRB, Ann Arbor, MI 48109, USA
    Breast Cancer Res Treat 124:459-65. 2010
    ..Even in a high risk population, the PPV of this test is low. Diagnosis of this important genetic syndrome still relies heavily on detailed history and full physical exam...
  35. doi Medullary thyroid cancer: management guidelines of the American Thyroid Association
    Richard T Kloos
    Department of Internal Medicine, Division of Endocrinology, Diabetes and Metabolism, The Ohio State University, The Arthur G James Cancer Hospital, Columbus, Ohio 43210, USA
    Thyroid 19:565-612. 2009
    ....
  36. ncbi Increased nuclear phosphatase and tensin homologue deleted on chromosome 10 is associated with G0-G1 in MCF-7 cells
    Margaret E Ginn-Pease
    Clinical Cancer Genetics Program, Comprehensive Cancer Center, Columbus, Ohio 43210, USA
    Cancer Res 63:282-6. 2003
    ..Higher nuclear PTEN levels were associated with G0-G1 phase, and lower nuclear PTEN levels were associated with S phase. We postulate that nuclear PTEN activity might directly regulate the cell cycle...
  37. pmc Gene expression profiling identifies MMP-12 and ADAMDEC1 as potential pathogenic mediators of pulmonary sarcoidosis
    Elliott D Crouser
    Division of Pulmonary, Allergy, Critical Care, and Sleep Medicine, The Dorothy M Davis Heart and Lung Research Institute, Columbus, Ohio 43210 1252, USA
    Am J Respir Crit Care Med 179:929-38. 2009
    ..Little is known about the genetic regulation of granulomatous inflammation in sarcoidosis...
  38. ncbi Gene-expression profiling in differentiated thyroid cancer--a viable strategy for the practice of genomic medicine?
    Frank Weber
    The Ohio State University, Human Cancer Genetics Program, 420 West 12th Avenue, Ste 690 TMRF, Columbus, OH 43210, USA
    Future Oncol 1:497-510. 2005
    ..However, it is already clear that genomic technology alone is insufficient to fully achieve this vision...
  39. ncbi A novel PTEN mutation in Cowden syndrome is associated with a mixed degenerative-erosive arthritic process: potential molecular pathogenic mechanisms
    Joseph J Pinzone
    Department of Internal Medicine, The Ohio State University Medical Center, 1581 Dodd Drive, Columbus, OH 43210, USA
    Am J Med Genet A 143:1522-7. 2007
  40. ncbi From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family
    Kristin A Waite
    Human Cancer Genetics and Clinical Cancer Genetics Programs, Comprehensive Cancer Center, Division of Human Cancer Genetics, Department of Molecular Virology, Immunology and Medical Genetics, The Ohio State University, Columbus, Ohio 43210, USA
    Nat Rev Genet 4:763-73. 2003
    ..Molecular studies of TGF-beta signalling are now showing why mutations in genes that encode components of this pathway result in inherited cancer and developmental diseases...
  41. ncbi PTEN regulates phospholipase D and phospholipase C
    Christopher A Alvarez-Breckenridge
    Department of Evolution, Ecology and Organismal Biology, The Ohio State University, Columbus, OH 43210, USA
    Hum Mol Genet 16:1157-63. 2007
    ..This provides alternative routes for PTEN's tumor suppressor action that may be beneficial in the creation of novel targets for cancer therapy and prevention...
  42. ncbi Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset
    Sarah R McWhinney
    Department of Molecular Genetics, The Ohio State University, Columbus, Ohio 43210, USA
    J Clin Endocrinol Metab 88:4911-6. 2003
    ..016), our observations suggest the presence of a low-penetrance pheochromocytoma susceptibility locus in a region upstream of the putative loci for HSCR and apparently sporadic MTC...
  43. ncbi PTEN blocks insulin-mediated ETS-2 phosphorylation through MAP kinase, independently of the phosphoinositide 3-kinase pathway
    Liang Ping Weng
    Clinical Cancer Genetics Program and Human Cancer Genetics Program, Division of Human Cancer Genetics, Department of Molecular Virology, Immunology and Medical Genetics, and Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA
    Hum Mol Genet 11:1687-96. 2002
    ....
  44. ncbi Constipation, polyps, or cancer? Let PTEN predict your future
    Charis Eng
    Clinical Cancer Genetics Program and Human Cancer Genetics Program, Comprehensive Cancer Center, Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, Ohio 43210, USA
    Am J Med Genet A 122:315-22. 2003
    ..In contrast, JPS and PJS have increased risk of gastrointestinal cancers in particular. Thus, molecular-based diagnoses to differentiate each of these syndromes are important for medical management...
  45. ncbi Peroxisome proliferator-activated receptor gamma is frequently downregulated in a diversity of sporadic nonmedullary thyroid carcinomas
    Micheala A Aldred
    Human Cancer Genetics Program, The Ohio State University, Columbus, OH, USA
    Oncogene 22:3412-6. 2003
    ....
  46. pmc Molecular classification of parathyroid neoplasia by gene expression profiling
    Carl Morrison
    Department of Anatomic Pathology, The Ohio State University, 310 West 10th Ave, M 417 Starling Loving Hall, Columbus, OH 43210, USA
    Am J Pathol 165:565-76. 2004
    ....
  47. pmc Protean PTEN: form and function
    Kristin A Waite
    Human Cancer Genetics, Department of Molecular Virology, Immunology and Medical Genetics, The Ohio State University, 420 West 12th Avenue, Columbus, OH 43210, USA
    Am J Hum Genet 70:829-44. 2002
    ....
  48. pmc A multi-institutional phase II study of the efficacy and tolerability of lapatinib in patients with advanced hepatocellular carcinomas
    Tanios Bekaii-Saab
    The Ohio State University Comprehensive Cancer Center, Columbus, Ohio 43210, USA
    Clin Cancer Res 15:5895-901. 2009
    ..HCC responds poorly to chemotherapy. Lapatinib is an inhibitor of epidermal growth factor receptor and HER2/NEU both implicated in hepatocarcinogenesis. This trial was designed to determine the safety and efficacy of lapatinib in HCC...
  49. ncbi 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...
  50. ncbi The expanding role of PTEN in neoplasia: a molecule for all seasons? Commentary re: M. A. Davies, et al., Adenoviral-mediated expression of MMAC/PTEN inhibits proliferation and metastasis of human prostate cancer cells. Clin. Cancer Res., 8: 1904-1914, 20
    Magali Fernandez
    Clinical Cancer Genetics and Human Cancer Genetics Programs, Comprehensive Cancer Center, Department of Internal Medicine, The Ohio State University, 420 West 12th Avenue, Columbus, OH 43210, USA
    Clin Cancer Res 8:1695-8. 2002
    ....
  51. 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...
  52. ncbi 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...
  53. ncbi Distinct PTEN mutational spectra in hereditary non-polyposis colon cancer syndrome-related endometrial carcinomas compared to sporadic microsatellite unstable tumors
    Xiao Ping Zhou
    Clinical Cancer Genetics Program and Human Cancer Genetics Program, Comprehensive Cancer Center and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH 43210, USA
    Hum Mol Genet 11:445-50. 2002
    ..01), suggesting that PTEN mutations may precede MMR deficiency...
  54. ncbi A role for mitochondrial enzymes in inherited neoplasia and beyond
    Charis Eng
    Clinical Cancer Genetics Program, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, 420 W 12th Avenue, Ste 690 TMRF, Columbus, Ohio 43210, USA
    Nat Rev Cancer 3:193-202. 2003
    ..Understanding this link between inherited cancer syndromes and neurological disease could provide further insights into the mechanisms by which mitochondrial deficiencies lead to tumour development...
  55. ncbi 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
    ....
  56. ncbi 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...
  57. 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
    ....
  58. ncbi Evidence of MEN-2 in the original description of classic pheochromocytoma
    Hartmut P H Neumann
    Department of Nephrology, University of Freiburg Medical Center, Freiburg im Breisgau, Germany
    N Engl J Med 357:1311-5. 2007
    ..The presence of germ-line RET mutations in four living relatives demonstrates that the original patient and her family had multiple endocrine neoplasia type 2 and provides molecular evidence that she had pheochromocytoma...
  59. ncbi The pressure rises: update on the genetics of phaeochromocytoma
    Eamonn R Maher
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, School of Medicine, University of Birmingham and West Midlands Genetics Service, Birmingham, UK
    Hum Mol Genet 11:2347-54. 2002
    ..The mechanism by which SDH subunit mutations predispose to phaeochromocytomas has not been defined in detail, but dysregulation of hypoxia-responsive genes and impairment of mitochondria-mediated apoptosis have both been suggested...
  60. 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...
  61. ncbi Germ-line mutations in nonsyndromic pheochromocytoma
    Hartmut P H Neumann
    Department of Nephrology and Hypertension, Albert Ludwigs University, Freiburg, Germany
    N Engl J Med 346:1459-66. 2002
    ....
  62. ncbi Silencing of the PTEN tumor-suppressor gene in anaplastic thyroid cancer
    Tony Frisk
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    Genes Chromosomes Cancer 35:74-80. 2002
    ..Furthermore, the high rate of alterations in the 10q23 region might indicate the presence of an as-yet unknown tumor-suppressor gene with an important role in the development of thyroid tumors...
  63. ncbi SDHB--a gene for all tumors?
    Charis Eng
    J Natl Cancer Inst 100:1193-5. 2008
  64. 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...
  65. doi First report of ovarian dysgerminoma in Cowden syndrome with germline PTEN mutation and PTEN-related 10q loss of tumor heterozygosity
    Mee Yon Cho
    Department of Pathology, Wonju College of Medicine, Yonsei University, Wonju, Korea
    Am J Surg Pathol 32:1258-64. 2008
    ..This is the first report of Cowden syndrome presenting with ovarian dysgerminoma, which implicates PTEN in the molecular pathogenesis of dysgerminoma and adds it to the phenotypic manifestations of Cowden syndrome...
  66. 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...
  67. doi Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer
    Taru Ahvenainen
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, PO Box 63, FI 00014 Helsinki, Finland
    Cancer Genet Cytogenet 183:83-8. 2008
    ..Our finding, together with the two patients with whole FH gene deletion who had been detected previously, suggests that exonic or whole-gene FH deletions are not a frequent cause of HLRCC syndrome...
  68. 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
    ....
  69. doi 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
    ....
  70. ncbi Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD
    Barbara Pasini
    Department of Genetics, Biology and Biochemistry, University of Torino, Turin, Italy
    Eur J Hum Genet 16:79-88. 2008
    ..We conclude that succinate dehydrogenase deficiency may be the cause of a subgroup of GISTs and this offers a therapeutic target for GISTs that may not respond to STI571 and its analogs...
  71. ncbi Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors
    Ludmila Matyakhina
    Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 92:2938-43. 2007
    ....
  72. ncbi 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
    ....
  73. ncbi 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
    ....
  74. ncbi PTEN autoregulates its expression by stabilization of p53 in a phosphatase-independent manner
    Yufang Tang
    Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, 9500 Euclid Avenue, Cleveland, OH 44195, USA
    Cancer Res 66:736-42. 2006
    ..The importance of our observations is underlined by the broad spectrum of neoplasias that harbor somatic PTEN or p53 alterations, or both...
  75. ncbi PTEN mutations are common in sporadic microsatellite stable colorectal cancer
    Najah T Nassif
    Cancer Research Laboratories, South West Sydney Clinical School, University of New South Wales, Liverpool Hospital, Liverpool, NSW 2170, Australia
    Oncogene 23:617-28. 2004
    ..This work therefore establishes the importance of PTEN in primary sporadic colorectal cancer...
  76. ncbi Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility
    Dewi Astuti
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Edgbaston, Birmingham, UK
    Clin Endocrinol (Oxf) 59:728-33. 2003
    ..Germline mutations in three subunits of mitochondrial complex II (SDHB, SDHC and SDHD) may be associated with susceptibility to phaeochromocytoma (PC) and/or head and neck paraganglioma (HNPGL)...
  77. ncbi Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene
    Francesca Schiavi
    Department of Endocrinology, University of Padova, Padova, Italy
    JAMA 294:2057-63. 2005
    ..In contrast with those with germline mutations of the SDHB and SDHD genes, clinical and genetic data on patients with mutations of SDHC are scarce...
  78. ncbi 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
    ....
  79. ncbi Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
    Hartmut P H Neumann
    Department of Nephrology and Hypertension, Albert Ludwigs University, Freiburg, Germany
    JAMA 292:943-51. 2004
    ..In both syndromes, pheochromocytomas as well as head and neck paragangliomas occur; however, details for individual risks and other clinical characteristics are unknown...
  80. ncbi Genetic/familial high-risk assessment: breast and ovarian
    Mary B Daly
    Fox Chase Cancer Center, Philadelphia, PA, USA
    J Natl Compr Canc Netw 4:156-76. 2006
  81. pmc Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma
    Sakari Vanharanta
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Finland
    Am J Hum Genet 74:153-9. 2004
    ..All RCCs showed loss of the remaining wild-type allele. Our observations suggest that germline SDHB mutations can predispose to early-onset kidney cancers in addition to paragangliomas and carry implications for medical surveillance...
  82. ncbi GI polyposis and glycogenic acanthosis of the esophagus associated with PTEN mutation positive Cowden syndrome in the absence of cutaneous manifestations
    Thomas J McGarrity
    Department of Medicine, Penn State Cancer Institute, The Milton S Hershey Medical Center, Pennsylvania State University, Hershey, Pennsylvania, USA
    Am J Gastroenterol 98:1429-34. 2003
    ..Together with genetic counseling, molecular diagnostic testing will allow more accurate risk assessment and surveillance for cancer for both the patient and family members...
  83. ncbi Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1
    Birke Bausch
    Department of Neurology, University Medical Center Freiburg, Germany
    J Clin Endocrinol Metab 92:2784-92. 2007
    ..Because of the low prevalence of pheochromocytoma in NF1, we ascertained subjects by pheochromocytoma that also had NF1 in the hope of describing the germline NF1 mutational spectra of NF1-related pheochromocytoma...
  84. ncbi Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
    Joanne Kotsopoulos
    Centre for Research in Women s Health, Women s College Hospital, University of Toronto, Room 750, 790 Bay Street, 7th Floor, Toronto, ON M5G 1N8, Canada
    Breast Cancer Res Treat 105:221-8. 2007
    ..Nonetheless, BRCA mutation carriers opting for a prophylactic oophorectomy as a breast and/or ovarian cancer risk-reducing strategy should complete childbearing prior to age 40 when this prevention modality is most effective...
  85. 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
    ....
  86. 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...
  87. ncbi Coffee consumption and breast cancer risk among BRCA1 and BRCA2 mutation carriers
    Andre Nkondjock
    Epidemiology Research Unit, Research Centre, Centre Hospitalier de Universitaire de Montréal, CHUM Hotel Dieu, Montreal, Canada
    Int J Cancer 118:103-7. 2006
    ..These results suggest that among women with BRCA gene mutation, coffee consumption is unlikely to be harmful and that high levels of consumption may in fact be related to reduced breast cancer risk...