Research Topics
Genomes and Genes
| Charis EngSummaryAffiliation: The Ohio State University Country: USA Publications
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Detail Information
Publications
A limited set of human MicroRNA is deregulated in follicular thyroid carcinomaFrank 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..Both miRNAs and their target genes might potentially provide for novel molecular markers and act as novel targets for treatment by interference, which could potentially normalize the deregulated profile of many downstream target genes...
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypesMarcus G Pezzolesi
Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH, 44195, USA
Am J Hum Genet 79:923-34. 2006....- Genetic and clinical investigation of pheochromocytoma: a 22-year experience, from Freiburg, Germany to international effortBirke 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... - Role of PTEN, a lipid phosphatase upstream effector of protein kinase B, in epithelial thyroid carcinogenesisCharis 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... - 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 pathwayXiao 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... - Activator protein 2 alpha (AP2alpha) suppresses 42 kDa C/CAAT enhancer binding protein alpha (p42(C/EBPalpha)) in head and neck squamous cell carcinomaKristi 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... - Tumor suppressor activity of CCAAT/enhancer binding protein alpha is epigenetically down-regulated in head and neck squamous cell carcinomaKristi 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... - Nuclear-cytoplasmic partitioning of phosphatase and tensin homologue deleted on chromosome 10 (PTEN) differentially regulates the cell cycle and apoptosisJi-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... - Silencing of the maternally imprinted tumor suppressor ARHI contributes to follicular thyroid carcinogenesisFrank Weber
Human Cancer Genetics Program, The Ohio State University, Columbus, Ohio 43210, USA
J Clin Endocrinol Metab 90:1149-55. 2005.... - The ERK1/2 pathway modulates nuclear PTEN-mediated cell cycle arrest by cyclin D1 transcriptional regulationJi 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... - Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposisKevin Sweet
Clinical Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, USA
JAMA 294:2465-73. 2005..Rereview of histology results by a dedicated gastrointestinal pathologist should be considered routinely, as organ-specific surveillance rests on defining syndromic diagnosis... - Caveolin-1 and caveolin-2,together with three bone morphogenetic protein-related genes, may encode novel tumor suppressors down-regulated in sporadic follicular thyroid carcinogenesisMicheala 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... - Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adultsXiao 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... - Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) has nuclear localization signal-like sequences for nuclear import mediated by major vault proteinJi-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... - Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTENShipra 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.... - Genetic classification of benign and malignant thyroid follicular neoplasia based on a three-gene combinationFrank 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... - A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testingXiao 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... - Mapping geographic zones of cancer risk with epigenetic biomarkers in normal breast tissuePearlly 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..These frequent alterations may explain why normal tissues are at risk for local recurrence and are useful in disease prognostication... - Papillary and follicular thyroid carcinomas show distinctly different microarray expression profiles and can be distinguished by a minimum of five genesMicheala A Aldred
Human Cancer Genetics Program, The Ohio State University, Columbus, OH 43210, USA
J Clin Oncol 22:3531-9. 2004..Furthermore, if verified in a larger series of tumors, these genes could, in combination with known tumor-specific chromosome translocations, form the basis of a valuable diagnostic tool... - High frequency of submicroscopic hemizygous deletion is a major mechanism of loss of expression of PTEN in uveal melanomaMohamed H Abdel-Rahman
Department of Ophthalmology, The Ohio State University, Columbus, USA
J Clin Oncol 24:288-95. 2006..Our data also suggest that submicroscopic deletion, but not large deletions, is the major mechanism of loss of PTEN expression in uveal melanomas... - Frequent somatic mutations in PTEN and TP53 are mutually exclusive in the stroma of breast carcinomasKeisuke 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... - BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levelsKristin 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... - PTEN: one gene, many syndromesCharis 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... - Combined total genome loss of heterozygosity scan of breast cancer stroma and epithelium reveals multiplicity of stromal targetsKoichi 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... - Allele-specific tumor spectrum in pten knockin miceHui 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... - Frequency of germline PTEN mutations in differentiated thyroid cancerRebecca 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... 
Heritable clustering and pathway discovery in breast cancer integrating epigenetic and phenotypic dataZailong 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...- Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paragangliomaSarah 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... - Phytoestrogen exposure elevates PTEN levelsKristin 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... - PTEN mutational spectra, expression levels, and subcellular localization in microsatellite stable and unstable colorectal cancersXiao-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... 
Direct evidence for epithelial-mesenchymal transitions in breast cancerANTHONY 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...- Variable expression of coxsackie-adenovirus receptor in thyroid tumors: implications for adenoviral gene therapyDerek 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... - Highly penetrant hereditary cancer syndromesRebecca 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... - Head circumference in the clinical detection of PTEN hamartoma tumor syndrome in a clinic population at high-risk of breast cancerStacey 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... - Medullary thyroid cancer: management guidelines of the American Thyroid AssociationRichard 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.... - Increased nuclear phosphatase and tensin homologue deleted on chromosome 10 is associated with G0-G1 in MCF-7 cellsMargaret 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... - Gene expression profiling identifies MMP-12 and ADAMDEC1 as potential pathogenic mediators of pulmonary sarcoidosisElliott 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... - 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... - A novel PTEN mutation in Cowden syndrome is associated with a mixed degenerative-erosive arthritic process: potential molecular pathogenic mechanismsJoseph 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 - From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta familyKristin 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... - PTEN regulates phospholipase D and phospholipase CChristopher 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... - Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onsetSarah 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... - PTEN blocks insulin-mediated ETS-2 phosphorylation through MAP kinase, independently of the phosphoinositide 3-kinase pathwayLiang 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.... - Constipation, polyps, or cancer? Let PTEN predict your futureCharis 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... - Peroxisome proliferator-activated receptor gamma is frequently downregulated in a diversity of sporadic nonmedullary thyroid carcinomasMicheala A Aldred
Human Cancer Genetics Program, The Ohio State University, Columbus, OH, USA
Oncogene 22:3412-6. 2003.... - Molecular classification of parathyroid neoplasia by gene expression profilingCarl 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.... - Protean PTEN: form and functionKristin 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.... - A multi-institutional phase II study of the efficacy and tolerability of lapatinib in patients with advanced hepatocellular carcinomasTanios 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... - Expression of vascular endothelial growth factor in uveal melanoma is independent of 6p21-region copy numberMohamed 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... - 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, 20Magali 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.... - A novel mutation in the tyrosine kinase domain of ERBB2 in hepatocellular carcinomaTanios 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... - Pilot study of rosiglitazone therapy in women with breast cancer: effects of short-term therapy on tumor tissue and serum markersLisa 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... - Distinct PTEN mutational spectra in hereditary non-polyposis colon cancer syndrome-related endometrial carcinomas compared to sporadic microsatellite unstable tumorsXiao 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... - A role for mitochondrial enzymes in inherited neoplasia and beyondCharis 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... - Cowden syndromeShanna Gustafson
Center for Personalized Genetic Healthcare, Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
Semin Oncol 34:428-34. 2007.... - Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paragangliomaKevin 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... - Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translationRosemary E Teresi
Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH, 44195, USA
Am J Hum Genet 81:756-67. 2007.... - Evidence of MEN-2 in the original description of classic pheochromocytomaHartmut 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... - The pressure rises: update on the genetics of phaeochromocytomaEamonn 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... - SNP arrays in heterogeneous tissue: highly accurate collection of both germline and somatic genetic information from unpaired single tumor samplesGuillaume 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... - Germ-line mutations in nonsyndromic pheochromocytomaHartmut P H Neumann
Department of Nephrology and Hypertension, Albert Ludwigs University, Freiburg, Germany
N Engl J Med 346:1459-66. 2002.... - Silencing of the PTEN tumor-suppressor gene in anaplastic thyroid cancerTony 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... - SDHB--a gene for all tumors?Charis Eng
J Natl Cancer Inst 100:1193-5. 2008 - Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromesYing 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... - First report of ovarian dysgerminoma in Cowden syndrome with germline PTEN mutation and PTEN-related 10q loss of tumor heterozygosityMee 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... - ATP modulates PTEN subcellular localization in multiple cancer cell linesGlenn 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... - Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancerTaru 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... - Differential expression of PTEN-targeting microRNAs miR-19a and miR-21 in Cowden syndromeMarcus G Pezzolesi
Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
Am J Hum Genet 82:1141-9. 2008.... - Frequency of germline genomic homozygosity associated with cancer casesGuillaume Assie
Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
JAMA 299:1437-45. 2008.... - 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 SDHDBarbara 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... - Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumorsLudmila 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.... - Differential expression of novel naturally occurring splice variants of PTEN and their functional consequences in Cowden syndrome and sporadic breast cancerShipra 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.... - Increased PTEN expression due to transcriptional activation of PPARgamma by Lovastatin and RosiglitazoneRosemary E Teresi
Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
Int J Cancer 118:2390-8. 2006.... - PTEN autoregulates its expression by stabilization of p53 in a phosphatase-independent mannerYufang 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... - PTEN mutations are common in sporadic microsatellite stable colorectal cancerNajah 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... - Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibilityDewi 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..CONCLUSION: The significantly lower frequency (P = 0.028) of germline SDH subunit mutations in familial PC only cases compared to those with familial PC and HNPGL suggests that further PC susceptibility gene(s) remain to be identified... - Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC geneFrancesca Schiavi
Department of Endocrinology, University of Padova, Padova, Italy
JAMA 294:2057-63. 2005..Head and neck paragangliomas associated with SDHC mutations are virtually exclusively benign and seldom multifocal. Analysis for germline mutations of SDHC is recommended in apparently sporadic HNP to identify risk of inheritance... - High frequency of loss of heterozygosity in imprinted, compared with nonimprinted, genomic regions in follicular thyroid carcinomas and atypical adenomasMarta S Sarquis
Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, Ohio 44195, USA
J Clin Endocrinol Metab 91:262-9. 2006.... - Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutationsHartmut 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... - Genetic/familial high-risk assessment: breast and ovarianMary B Daly
Fox Chase Cancer Center, Philadelphia, PA, USA
J Natl Compr Canc Netw 4:156-76. 2006 - Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paragangliomaSakari 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... - GI polyposis and glycogenic acanthosis of the esophagus associated with PTEN mutation positive Cowden syndrome in the absence of cutaneous manifestationsThomas 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... - Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1Birke 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... - Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriersJoanne 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... - Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndromeMarta S Sarquis
Genomic Medicine Institute, Cleveland, OH 44195, USA
Am J Hum Genet 79:23-30. 2006.... - EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposisAntti 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... - Coffee consumption and breast cancer risk among BRCA1 and BRCA2 mutation carriersAndre 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...