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1. Other Supporting Colleagues from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

Author

Charis Eng, Carlos Suarez, Andrzej Januszewicz, Gerd J. Ridder, Giuseppe Opocher, Alberto Cascon, Klaus Zerres, Ulrich Finckh, Witold Szyfter, Matti Välimäki, Peter Schwerdtfeger, Sven Koscielny, Matthias Kühnemund, Alexander Glien, Christoph Brase, Jörg Schipper, Masoud Motasaddi Zarandy, Mahdi Malekpour, Harald Gorgulla, Christian Fottner, Timo Stöver, Holger Kaftan, Martin A. Walter, Dirk Eβer, Simon F. Preuss, Nicole Reisch, Christoph Matthias, Gerhard Dyckhoff, Michael Strohm, Stephan Knipping, Robert R. Lorenz, Mihaela Muresan, Wolfgang Draf, Svetlana Yaremchuk, Dmitry Zabolotny, Michael Croxson, Diana Learoyd, Robyn L. Ward, Pascal Pigny, Agata Kubaszek, Mariola Peczkowska, Marjan M. Weiss, Maria A. Sevilla, Maren Sullivan, Michael M. Hoffmann, Boris A. Stuck, Gerd Rasp, Stefanie Wiegand, Bruce G. Robinson, Diana E. Benn, Emily Edelman, Markus Fischer, Karen Lampe, Catherine Bauters, Pingling Kwok, Maurizio Falcioni, Francesca Schiavi, Mario Hermsen, Mercedes Robledo, Lisa A. Rybicki, Carsten C. Boedeker, Zoran Erlic, and Hartmut P.H. Neumann

Abstract

Other Supporting Colleagues from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

Published
2023
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2. Data from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

Author

Charis Eng, Carlos Suarez, Andrzej Januszewicz, Gerd J. Ridder, Giuseppe Opocher, Alberto Cascon, Klaus Zerres, Ulrich Finckh, Witold Szyfter, Matti Välimäki, Peter Schwerdtfeger, Sven Koscielny, Matthias Kühnemund, Alexander Glien, Christoph Brase, Jörg Schipper, Masoud Motasaddi Zarandy, Mahdi Malekpour, Harald Gorgulla, Christian Fottner, Timo Stöver, Holger Kaftan, Martin A. Walter, Dirk Eβer, Simon F. Preuss, Nicole Reisch, Christoph Matthias, Gerhard Dyckhoff, Michael Strohm, Stephan Knipping, Robert R. Lorenz, Mihaela Muresan, Wolfgang Draf, Svetlana Yaremchuk, Dmitry Zabolotny, Michael Croxson, Diana Learoyd, Robyn L. Ward, Pascal Pigny, Agata Kubaszek, Mariola Peczkowska, Marjan M. Weiss, Maria A. Sevilla, Maren Sullivan, Michael M. Hoffmann, Boris A. Stuck, Gerd Rasp, Stefanie Wiegand, Bruce G. Robinson, Diana E. Benn, Emily Edelman, Markus Fischer, Karen Lampe, Catherine Bauters, Pingling Kwok, Maurizio Falcioni, Francesca Schiavi, Mario Hermsen, Mercedes Robledo, Lisa A. Rybicki, Carsten C. Boedeker, Zoran Erlic, and Hartmut P.H. Neumann

Abstract

Multiple genes and their variants that lend susceptibility to many diseases will play a major role in clinical routine. Genetics-based cost reduction strategies in diagnostic processes are important in the setting of multiple susceptibility genes for a single disease. Head and neck paraganglioma (HNP) is caused by germline mutations of at least three succinate dehydrogenase subunit genes (SDHx). Mutation analysis for all 3 costs ∼US$2,700 per patient. Genetic classification is essential for downstream management of the patient and preemptive management of family members. Utilizing HNP as a model, we wanted to determine predictors to prioritize the most heritable clinical presentations and which gene to begin testing in HNP presentations, to reduce costs of genetic screening. Patients were tested for SDHB, SDHC, and SDHD intragenic mutations and large deletions. Clinical parameters were analyzed as potential predictors for finding germline mutations. Cost reduction was calculated between prioritized gene testing compared with that for all genes. Of 598 patients, 30.6% had SDHx germline mutations: 34.4% in SDHB, 14.2% SDHC, and 51.4% SDHD. Predictors for an SDHx mutation are family history [odds ratio (OR), 37.9], previous pheochromocytoma (OR, 10.9), multiple HNP (OR, 10.6), age ≤40 years (OR, 4.0), and male gender (OR, 3.5). By screening only preselected cases and a stepwise approach, 60% cost reduction can be achieved, with 91.8% sensitivity and 94.5% negative predictive value. Our data give evidence that clinical parameters can predict for mutation and help prioritize gene testing to reduce costs in HNP. Such strategy is cost-saving in the practice of genetics-based personalized health care. [Cancer Res 2009;69(8):3650–6]

Published
2023
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3. Supplementary Table 1 Legends and References from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

Author

Charis Eng, Carlos Suarez, Andrzej Januszewicz, Gerd J. Ridder, Giuseppe Opocher, Alberto Cascon, Klaus Zerres, Ulrich Finckh, Witold Szyfter, Matti Välimäki, Peter Schwerdtfeger, Sven Koscielny, Matthias Kühnemund, Alexander Glien, Christoph Brase, Jörg Schipper, Masoud Motasaddi Zarandy, Mahdi Malekpour, Harald Gorgulla, Christian Fottner, Timo Stöver, Holger Kaftan, Martin A. Walter, Dirk Eβer, Simon F. Preuss, Nicole Reisch, Christoph Matthias, Gerhard Dyckhoff, Michael Strohm, Stephan Knipping, Robert R. Lorenz, Mihaela Muresan, Wolfgang Draf, Svetlana Yaremchuk, Dmitry Zabolotny, Michael Croxson, Diana Learoyd, Robyn L. Ward, Pascal Pigny, Agata Kubaszek, Mariola Peczkowska, Marjan M. Weiss, Maria A. Sevilla, Maren Sullivan, Michael M. Hoffmann, Boris A. Stuck, Gerd Rasp, Stefanie Wiegand, Bruce G. Robinson, Diana E. Benn, Emily Edelman, Markus Fischer, Karen Lampe, Catherine Bauters, Pingling Kwok, Maurizio Falcioni, Francesca Schiavi, Mario Hermsen, Mercedes Robledo, Lisa A. Rybicki, Carsten C. Boedeker, Zoran Erlic, and Hartmut P.H. Neumann

Abstract

Supplementary Table 1 Legends and References from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

Published
2023
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4. Supplementary Table 1 from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

Author

Charis Eng, Carlos Suarez, Andrzej Januszewicz, Gerd J. Ridder, Giuseppe Opocher, Alberto Cascon, Klaus Zerres, Ulrich Finckh, Witold Szyfter, Matti Välimäki, Peter Schwerdtfeger, Sven Koscielny, Matthias Kühnemund, Alexander Glien, Christoph Brase, Jörg Schipper, Masoud Motasaddi Zarandy, Mahdi Malekpour, Harald Gorgulla, Christian Fottner, Timo Stöver, Holger Kaftan, Martin A. Walter, Dirk Eβer, Simon F. Preuss, Nicole Reisch, Christoph Matthias, Gerhard Dyckhoff, Michael Strohm, Stephan Knipping, Robert R. Lorenz, Mihaela Muresan, Wolfgang Draf, Svetlana Yaremchuk, Dmitry Zabolotny, Michael Croxson, Diana Learoyd, Robyn L. Ward, Pascal Pigny, Agata Kubaszek, Mariola Peczkowska, Marjan M. Weiss, Maria A. Sevilla, Maren Sullivan, Michael M. Hoffmann, Boris A. Stuck, Gerd Rasp, Stefanie Wiegand, Bruce G. Robinson, Diana E. Benn, Emily Edelman, Markus Fischer, Karen Lampe, Catherine Bauters, Pingling Kwok, Maurizio Falcioni, Francesca Schiavi, Mario Hermsen, Mercedes Robledo, Lisa A. Rybicki, Carsten C. Boedeker, Zoran Erlic, and Hartmut P.H. Neumann

Abstract

Supplementary Table 1 from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

Published
2023
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5. Supplementary Table 2 from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

Author

Charis Eng, Carlos Suarez, Andrzej Januszewicz, Gerd J. Ridder, Giuseppe Opocher, Alberto Cascon, Klaus Zerres, Ulrich Finckh, Witold Szyfter, Matti Välimäki, Peter Schwerdtfeger, Sven Koscielny, Matthias Kühnemund, Alexander Glien, Christoph Brase, Jörg Schipper, Masoud Motasaddi Zarandy, Mahdi Malekpour, Harald Gorgulla, Christian Fottner, Timo Stöver, Holger Kaftan, Martin A. Walter, Dirk Eβer, Simon F. Preuss, Nicole Reisch, Christoph Matthias, Gerhard Dyckhoff, Michael Strohm, Stephan Knipping, Robert R. Lorenz, Mihaela Muresan, Wolfgang Draf, Svetlana Yaremchuk, Dmitry Zabolotny, Michael Croxson, Diana Learoyd, Robyn L. Ward, Pascal Pigny, Agata Kubaszek, Mariola Peczkowska, Marjan M. Weiss, Maria A. Sevilla, Maren Sullivan, Michael M. Hoffmann, Boris A. Stuck, Gerd Rasp, Stefanie Wiegand, Bruce G. Robinson, Diana E. Benn, Emily Edelman, Markus Fischer, Karen Lampe, Catherine Bauters, Pingling Kwok, Maurizio Falcioni, Francesca Schiavi, Mario Hermsen, Mercedes Robledo, Lisa A. Rybicki, Carsten C. Boedeker, Zoran Erlic, and Hartmut P.H. Neumann

Abstract

Supplementary Table 2 from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

Published
2023
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6. Head and neck paragangliomas: clinical and molecular genetic classification

Author

Christian Offergeld, Christoph Brase, Svetlana Yaremchuk, Irina Mader, Hans Christian Rischke, Sven Gläsker, Kurt W Schmid, Thorsten Wiech, Simon F Preuss, Carlos Suárez, Tomasz Kopć, Attila Patocs, Nelson Wohllk, Mahdi Malekpour, Carsten C Boedeker, and Hartmut PH Neumann

Subjects
Paraganglioma, Susceptibility Genes, Shamblin Classification, Fisch Classification, Medicine (General), R5-920
Abstract

Head and neck paragangliomas are tumors arising from specialized neural crest cells. Prominent locations are the carotid body along with the vagal, jugular, and tympanic glomus. Head and neck paragangliomas are slowly growing tumors, with some carotid body tumors being reported to exist for many years as a painless lateral mass on the neck. Symptoms depend on the specific locations. In contrast to paraganglial tumors of the adrenals, abdomen and thorax, head and neck paragangliomas seldom release catecholamines and are hence rarely vasoactive. Petrous bone, jugular, and tympanic head and neck paragangliomas may cause hearing loss. The internationally accepted clinical classifications for carotid body tumors are based on the Shamblin Class I-III stages, which correspond to postoperative permanent side effects. For petrous-bone paragangliomas in the head and neck, the Fisch classification is used. Regarding the molecular genetics, head and neck paragangliomas have been associated with nine susceptibility genes: NF1, RET, VHL, SDHA, SDHB, SDHC, SDHD, SDHAF2 (SDH5), and TMEM127. Hereditary HNPs are mostly caused by mutations of the SDHD gene, but SDHB and SDHC mutations are not uncommon in such patients. Head and neck paragangliomas are rarely associated with mutations of VHL, RET, or NF1. The research on SDHA, SDHAF2 and TMEM127 is ongoing. Multiple head and neck paragangliomas are common in patients with SDHD mutations, while malignant head and neck paraganglioma is mostly seen in patients with SDHB mutations. The treatment of choice is surgical resection. Good postoperative results can be expected in carotid body tumors of Shamblin Class I and II, whereas operations on other carotid body tumors and other head and neck paragangliomas frequently result in deficits of the cranial nerves adjacent to the tumors. Slow growth and the tendency of hereditary head and neck paragangliomas to be multifocal may justify less aggressive treatment strategies.

Published
2012
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7. Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry

Author

Birke, Bausch, Ulrich, Wellner, Mathieu, Peyre, Carsten C, Boedeker, Frederik J, Hes, Mariagiulia, Anglani, Jose M, de Campos, Hiroshi, Kanno, Eamonn R, Maher, Tobias, Krauss, Gabriela, Sansó, Marta, Barontini, Claudio, Letizia, Claudia, Hader, Francesca, Schiavi, Elisabetta, Zanoletti, Carlos, Suárez, Christian, Offergeld, Angelica, Malinoc, Stefan, Zschiedrich, Sven, Glasker, Serge, Bobin, Olivier, Sterkers, Patrice Tran, Ba Huy, Sophie, Giraud, Thera, Links, Charis, Eng, Giuseppe, Opocher, Stephane, Richard, Hartmut P H, Neumann, Guided Treatment in Optimal Selected Cancer Patients (GUTS), and Damage and Repair in Cancer Development and Cancer Treatment (DARE)

Subjects
Adult, Male, von Hippel-Lindau Disease, Adolescent, endocrine system diseases, FEATURES, prevalence, endolymphatic sac tumor, urologic and male genital diseases, Young Adult, MANAGEMENT, Humans, Registries, Child, neoplasms, temporal bone MRI, Ear Neoplasms, Germ-Line Mutation, Aged, MUTATIONS, ORIGIN, MIDDLE-EAR, ADENOCARCINOMA, Middle Aged, female genital diseases and pregnancy complications, ADENOMA, Von Hippel-Lindau Tumor Suppressor Protein, MORBID HEARING-LOSS, Female, Endolymphatic Sac, von Hippel-Lindau, SUPPRESSOR GENE
Abstract

Background. Endolymphatic sac tumors (ELSTs) are, with a prevalence of up to 16%, a component of von Hippel-Lindau (VHL) disease. Data from international registries regarding heritable fraction and characteristics, germline VHL mutation frequency, and prevalence are lacking. Methods. Systematic registration of ELSTs from international centers of otorhinolaryngology and from multidisciplinary VHL centers' registries was performed. Molecular genetic analyses of the VHL gene were offered to all patients. Results. Our population-based registry comprised 93 patients with ELST and 1789 patients with VHL. The prevalence of VHL germline mutations in apparently sporadic ELSTs was 39%. The prevalence of ELSTs in patients with VHL was 3.6%. ELST was the initial manifestation in 32% of patients with VHL-ELST. Conclusion. Prevalence of ELST in VHL disease is much lower compared to the literature. VHL-associated ELSTs can be the first presentation of the syndrome and mimic sporadic tumors, thus emphasizing the need of molecular testing in all presentations of ELST. (C) 2015 Wiley Periodicals, Inc.

Published
2016

8. Genetics of hereditary head and neck paragangliomas

Author

Carsten C, Boedeker, Erik F, Hensen, Hartmut P H, Neumann, Wolfgang, Maier, Francien H, van Nederveen, Carlos, Suárez, Henricus P, Kunst, Juan P, Rodrigo, Robert P, Takes, Phillip K, Pellitteri, Alessandra, Rinaldo, and Alfio, Ferlito

Subjects
Heterozygote, Neurofibromatosis 1, von Hippel-Lindau Disease, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, Gastrointestinal Stromal Tumors, Membrane Proteins, Kidney Neoplasms, Diagnosis, Differential, Mitochondrial Proteins, Paraganglioma, Succinate Dehydrogenase, Head and Neck Neoplasms, Neoplastic Syndromes, Hereditary, Multiple Endocrine Neoplasia Type 1, Humans, Genetic Testing, Carcinoma, Renal Cell, Germ-Line Mutation
Abstract

The purpose of this study was to give an overview on hereditary syndromes associated with head and neck paragangliomas (HNPGs).Our methods were the review and discussion of the pertinent literature.About one third of all patients with HNPGs are carriers of germline mutations. Hereditary HNPGs have been described in association with mutations of 10 different genes. Mutations of the genes succinate dehydrogenase subunit D (SDHD), succinate dehydrogenase complex assembly factor 2 gene (SDHAF2), succinate dehydrogenase subunit C (SDHC), and succinate dehydrogenase subunit B (SDHB) are the cause of paraganglioma syndromes (PGLs) 1, 2, 3, and 4. Succinate dehydrogenase subunit A (SDHA), von Hippel-Lindau (VHL), and transmembrane protein 127 (TMEM127) gene mutations also harbor the risk for HNPG development. HNPGs in patients with rearranged during transfection (RET), neurofibromatosis type 1 (NF1), and MYC-associated factor X (MAX) gene mutations have been described very infrequently.All patients with HNPGs should be offered a molecular genetic screening. This screening may usually be restricted to mutations of the genes SDHD, SDHB, and SDHC. Certain clinical parameters can help to set up the order in which those genes should be tested.

Published
2013

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