Research Topics
Species | CHARIS E ENGSummaryAffiliation: The Ohio State University Country: USA Publications
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Publications
Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriersEitan Friedman
The Suzanne Levy Gertner Oncogenetics Unit, The Chaim Sheba Medical Center, Tel Hashomer, Israel, and the Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
Breast Cancer Res 8:R15. 2006....
Mutation of the RET proto-oncogene is correlated with RET immunostaining in subpopulations of cells in sporadic medullary thyroid carcinomaC Eng
Cancer Research Campaign Human Cancer Genetics Research Group, University of Cambridge, United Kingdom
J Clin Endocrinol Metab 83:4310-3. 1998..If these preliminary results prove true, then given our data, we can further explore the feasibility of RET immunocytochemistry as a rapid assessment for the presence of somatic codon 918 for molecular diagnostic and prognostic purposes...- Genetic testing for cancer predispositionC 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
Annu Rev Med 52:371-400. 2001..Thorough medical care requires the identification of families likely to have a hereditary cancer susceptibility syndrome for referral to cancer genetics professionals... 
Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1C 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, OH 43210, USA
J Med Genet 38:824-33. 2001..The findings of this comparison provide a basis for interpreting studies of mutations in susceptibility genes across many inherited cancer syndromes...- 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... - 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... - RET proto-oncogene in the development of human cancerC Eng
Department of Adult Oncology, Dana Farber Cancer Institute, Harvard Medical School, Boston, MA, USA
J Clin Oncol 17:380-93. 1999..Whether the presence of somatic RET mutation is associated with a poor prognosis is currently being investigated as another tool for molecular medicine... - 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... - Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung diseaseC Eng
Dana Farber Cancer Institute, Department of Medicine, Harvard Medical School, Boston, Massachusetts 02115 6084, USA
Hum Mutat 9:97-109. 1997..In contrast to MEN 2, approximately 25% of patients with Hirschsprung disease have germline mutations scattered throughout the length of RET... - The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysisC Eng
Division of Cancer Epidemiology and Control, Dana Farber Cancer Institute, Department of Medicine, Harvard Medical School, Boston, MA 02115 6084, USA
JAMA 276:1575-9. 1996..The purpose of this study was to establish the relationship between specific mutations and the presence of certain disease features in MEN 2 which could help in clinical decision making... - Over-representation of a germline variant in the gene encoding RET co-receptor GFRalpha-1 but not GFRalpha-2 or GFRalpha-3 in cases with sporadic medullary thyroid carcinomaO Gimm
Clinical Cancer Genetics and Human Cancer Genetics Programs, Comprehensive Cancer Centre, and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, Ohio, OH 43210, USA
Oncogene 20:2161-70. 2001.... - Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinomaO Gimm
Comprehensive Cancer Center, Ohio State University, Columbus 43210, USA
J Clin Endocrinol Metab 84:2784-7. 1999.... - PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndromeD J Marsh
Clinical Cancer Genetics and Human Cancer Genetics Programs, Ohio State University Comprehensive Cancer Center, 690C Medical Research Facility, 420 West 12th Avenue, Columbus, OH 43210, USA
Hum Mol Genet 8:1461-72. 1999..Thus, PTEN mutation-positive CS and BRR may be different presentations of a single syndrome and, hence, both should receive equal attention with respect to cancer surveillance... - Genomic structure and chromosomal localization of the human GDNFR-alpha geneC Eng
Dana Farber Cancer Institute, Richard and Sara Smith Laboratories, Boston, Massachusetts 02115, USA
Oncogene 16:597-601. 1998..The human GDNFR-alpha gene comprises 9 exons. GDNFR-alpha PAC clones were used for FISH analysis to map this gene to 10q26... - Demographic and phenotypic features of 70 families segregating Barrett's oesophagus and oesophageal adenocarcinomaC M Drovdlic
Clinical Cancer Genetics Program, The Ohio State University, Columbus, OH 43210, USA
J Med Genet 40:651-6. 2003..oesophagus (BO) and oesophageal adenocarcinoma (OAC) likely follows an autosomal dominant model of most inherited cancer syndromes... - Referral for cancer genetics consultation: a review and compilation of risk assessment criteriaH Hampel
Clinical Cancer Genetics Program, The Ohio State University, Columbus, Ohio 43221, USA
J Med Genet 41:81-91. 2004..To assist health care professionals in deciding when a cancer genetics consultation is appropriate, available reports were critically reviewed in order to develop a single set of risk assessment criteria... - Mutation analysis of NTRK2 and NTRK3, encoding 2 tyrosine kinase receptors, in sporadic human medullary thyroid carcinoma reveals novel sequence variantsO Gimm
Clinical Cancer Genetics Program, Division of Human Genetics, Department of Internal Medicine, Ohio State University, Columbus 43210, USA
Int J Cancer 92:70-4. 2001..17 and 1 vs. 0, p > 0.05). We conclude that sequence variants in NTRK2 and NTRK3 are not likely to be responsible for large differences in expression at the protein level, but we cannot exclude very low penetrance effects... - Mutation and deletion analysis of GFR alpha-1, encoding the co-receptor for the GDNF/RET complex, in human brain tumoursO Gimm
Department of Adult Oncology, Dana Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA
Br J Cancer 80:383-6. 1999..Our data suggest that intragenic point mutations of GDNF or GFRalpha-1 are not a common aetiologic event in brain tumours. However, either deletion of GFRalpha-1 and/or nearby genes may contribute to the pathogenesis of these tumours... - Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutationO Gimm
Translational Research Laboratory, Dana Farber Cancer Institute, Boston, Massachusetts, USA
J Clin Endocrinol Metab 82:3902-4. 1997..Our data demonstrate a novel etiologic event which may have roles in predisposition to MEN 2B when present in the germline and in the pathogenesis of sporadic MTC when somatic... - Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma casesW M Smith
Clinical Cancer Genetics Program, Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus OH 43210, USA
Hum Genet 109:146-51. 2001.... - Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromesX P Zhou
Clinical Cancer Genetics and Human Cancer Genetics Programs, Comprehensive Cancer Center, and the Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH 43210, USA
Am J Hum Genet 69:704-11. 2001..Thus, germline BMPR1A mutations cause a significant proportion of cases of JPS and might define a small subset of cases of CS/BRRS with specific colonic phenotype... - Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutationD J Marsh
Department of Adult Oncology and Charles A Dana Human Cancer Genetics Unit, Dana Farber Cancer Institute, Boston, MA 02115 6084, USA Molecular Oncology Laboratory, Institut Bergo
Hum Mol Genet 7:507-15. 1998..However, these observations would need to be confirmed by studying a larger number of CD families... - Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumorsP L Dahia
Department of Adult Oncology, Dana Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115 6084, USA
Cancer Res 57:4710-3. 1997..quot; Alternatively, other tumor suppressor genes mapping to chromosome 10q22-23 could be the actual targets for such deletions and thus represent the various hits in the pathway of multistep carcinogenesis... - Variability in organ-specific EGFR mutational spectra in tumour epithelium and stroma may be the biological basis for differential responses to tyrosine kinase inhibitorsF Weber
Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA
Br J Cancer 92:1922-6. 2005..Those organ-specific mutational spectra and potential targets in the cancer-associated stroma might influence the efficacy of TKI therapy... - Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndromeR Pilarski
Clinical Cancer Genetics Program, Comprehensive Cancer Center, Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH 43210, USA
J Med Genet 41:323-6. 2004 - Rapid design of denaturing gradient-based two-dimensional electrophoretic gene mutational scanning testsN J van Orsouw
Molecular Genetics Section, Gerontology Division, Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Harvard Institutes of Medicine, Suite 921, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
Nucleic Acids Res 26:2398-406. 1998..Designs were generated for the RB1 , TP53 , MLH1 and BRCA1 genes that can be readily implemented in research and clinical laboratories as low cost genetic screening tests... - Germline PTEN mutations in Cowden syndrome-like familiesD J Marsh
Department of Adult Oncology, Dana Farber Cancer Institute, Harvard Medical School, Boston, MA 02115 6084, USA
J Med Genet 35:881-5. 1998..In addition, our data would suggest that, for the most part, the strict International Cowden Consortium operational diagnostic criteria for CS are quite robust and should remain in place... - Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 geneN J van Orsouw
Department of Medicine, Beth Israel Hospital, Boston, MA 02215, USA
Hum Mol Genet 5:755-61. 1996..These results suggest that 2-D electrophoresis in this format provides a generally applicable, practical and fast way to diagnose with high accuracy large genes for a broad spectrum of possible disease-causing mutations... - Genetic model of multi-step breast carcinogenesis involving the epithelium and stroma: clues to tumour-microenvironment interactionsK Kurose
Clinical Cancer Genetics and Human Cancer Genetics Programs, Comprehensive Cancer Centre, and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH 43210, USA
Hum Mol Genet 10:1907-13. 2001.... - Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytomaO Gimm
Department of Internal Medicine, The Ohio State University, Columbus 43210, USA
Cancer Res 60:6822-5. 2000.... - Microsatellite instability and hMLH1/hMSH2 expression in Barrett esophagus-associated adenocarcinomaM H Kulke
Dana Farber Cancer Institute, Boston, Massachusetts 02115, USA
Cancer 91:1451-7. 2001..This study sought to determine the prevalence of MSI in 80 primary Barrett esophagus-associated adenocarcinomas (BEAd) and to examine the relation of MSI with the clinical and pathologic features of the tumors... - Altered PTEN expression as a diagnostic marker for the earliest endometrial precancersG L Mutter
Department of Pathology, Brigham and Women s Hospital, Boston, MA 02115, USA
J Natl Cancer Inst 92:924-30. 2000..Testing the hypothesis that altered PTEN function precedes the appearance of endometrial adenocarcinoma has been difficult, however, partly because of uncertainties in precancer diagnosis... - Frequent loss of PTEN expression is linked to elevated phosphorylated Akt levels, but not associated with p27 and cyclin D1 expression, in primary epithelial ovarian carcinomasK Kurose
Clinical Cancer Genetics and Human Cancer Genetics Programs, The Ohio State University, Columbus, Ohio 43210, USA
Am J Pathol 158:2097-106. 2001..Alternatively, these observations could also suggest that pathways involving other than Akt, p27 and cyclin D1 that lie downstream of PTEN play roles in ovarian carcinogenesis... - Allelic loss of 10q23, the PTEN tumour suppressor gene locus, in Barrett's oesophagus-associated adenocarcinomaM H Kulke
Department of Adult Oncology, Dana Farber Cancer Institute and Harvard Medical School, Boston, MA, USA
Br J Cancer 84:748-53. 2001..It is possible that PTEN is inactivated through other mechanisms in BOAd... - PTEN coordinates G(1) arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer modelL P Weng
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 10:599-604. 2001.... - Loss-of-function mutations in PPAR gamma associated with human colon cancerP Sarraf
Department of Cancer Biology, Dana Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115, USA
Mol Cell 3:799-804. 1999..These data indicate that colon cancer in humans is associated with loss-of-function mutations in PPAR gamma... - Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGES L Dabora
Division of Hematology, Brigham and Women s Hospital, Boston, MA 02115, USA
Ann Hum Genet 62:491-504. 1998..During this study, we identified 2 new mutations (exon 8 and exon 15), a new polymorphism (intron 4), and the first variant identified in a non-coding exon (exon 2)... - Somatic mutation and germline variants of MINPP1, a phosphatase gene located in proximity to PTEN on 10q23.3, in follicular thyroid carcinomasO Gimm
Clinical Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio 43210, USA
J Clin Endocrinol Metab 86:1801-5. 2001..These results suggest a role for MINPP1 in the pathogenesis of at least a subset of malignant follicular thyroid tumors, and MINPP1 might act as a low penetrance predisposition allele for FTC... - A highly conserved processed PTEN pseudogene is located on chromosome band 9p21P L Dahia
Department of Adult Oncology, Dana Farber Cancer Institute, Boston, Massachusetts 02115, USA
Oncogene 16:2403-6. 1998..The high sequence homology of psiPTEN with the PTEN transcript may potentially lead to misinterpretation when performing mutation analyses based on cDNA templates. Caution should be exerted when using such screening approaches... - Gene expression in papillary thyroid carcinoma reveals highly consistent profilesY Huang
Human Cancer Genetics Program, Comprehensive Cancer Center, Department of Pathology, Divisions of Sensory Biophysics and Endocrinology and Nuclear Medicine, Ohio State University, Columbus, OH 43210, USA
Proc Natl Acad Sci U S A 98:15044-9. 2001..We conclude that, despite its clinical heterogeneity, PTC is characterized by consistent and specific molecular changes. These findings reveal clues to the molecular pathways involved in PTC and may provide biomarkers for clinical use... - PTEN inhibits insulin-stimulated MEK/MAPK activation and cell growth by blocking IRS-1 phosphorylation and IRS-1/Grb-2/Sos complex formation in a breast cancer modelL P Weng
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 10:605-16. 2001.... - Excessive CpG island hypermethylation in cancer cell lines versus primary human malignanciesD J Smiraglia
Division of Human Cancer Genetics, Department of Molecular Virology, Immunology and Medical Genetics, The Ohio State University, 420 West 12th Avenue, Columbus, OH 43210, USA
Hum Mol Genet 10:1413-9. 2001..These data indicate that most CpG island hypermethylation observed in cancer cell lines is due to an intrinsic property of cell lines as opposed to the malignant tissue from which they originated...