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Your search keyword '"Letteboer, Tom GW"' showing total 2 results
Start Over Author "Letteboer, Tom GW" Topic genetic diseases, inborn
2 results on '"Letteboer, Tom GW"'

1. Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study.

Author

Postema FA, Hopman SM, de Borgie CA, Hammond P, Hennekam RC, Merks JH, Aalfs CM, Anninga JK, Berger LP, Bleeker FE, de Bont ES, de Borgie CA, Dommering CJ, van Eijkelenburg NK, Hammond P, Hennekam RC, van den Heuvel-Eibrink MM, Hopman SM, Jongmans MC, Kors WA, Letteboer TG, Loeffen JL, Merks JH, Olderode-Berends MJ, Postema FA, and Wagner A

Subjects
Adolescent, Checklist, Child, Child, Preschool, Female, Genetic Predisposition to Disease, Humans, Infant, Infant, Newborn, Male, Neoplasms etiology, Netherlands, Photography, Prospective Studies, Research Design, Syndrome, Genetic Diseases, Inborn diagnosis, Mass Screening methods, Neoplasms genetics
Abstract

Introduction: Recognising a tumour predisposition syndrome (TPS) in patients with childhood cancer is of significant clinical relevance, as it affects treatment, prognosis and facilitates genetic counselling. Previous studies revealed that only half of the known TPSs are recognised during standard paediatric cancer care. In current medical practice it is impossible to refer every patient with childhood cancer to a clinical geneticist, due to limited capacity for routine genetic consultation. Therefore, we have developed a screening instrument to identify patients with childhood cancer with a high probability of having a TPS. The aim of this study is to validate the clinical screening instrument for TPS in patients with childhood cancer., Methods and Analysis: This study is a prospective nationwide cohort study including all newly diagnosed patients with childhood cancer in the Netherlands. The screening instrument consists of a checklist, two- and three-dimensional photographic series of the patient. 2 independent clinical geneticists will assess the content of the screening instrument. If a TPS is suspected based on the instrument data and thus further evaluation is indicated, the patient will be invited for full genetic consultation. A negative control group consists of 20% of the patients in whom a TPS is not suspected based on the instrument; they will be randomly invited for full genetic consultation. Primary outcome measurement will be sensitivity of the instrument., Ethics and Dissemination: The Medical Ethical Committee of the Academic Medical Centre stated that the Medical Research Involving Human Subjects Act does not apply to this study and that official approval of this study by the Committee was not required. The results will be offered for publication in peer-reviewed journals and presented at International Conferences on Oncology and Clinical Genetics. The clinical data gathered in this study will be available for all participating centres., Trial Registration Number: NTR5605., Competing Interests: Conflicts of Interest: None declared., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.)

Published
2017
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2. Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS) : Protocol for a prospective, observational, multicentre study

Author

Postema, Floor A M, Hopman, Saskia M J, de Borgie, Corianne A J M, Hammond, Peter, Hennekam, Raoul C, Merks, Johannes H M, Aalfs, Cora M, Anninga, Jakob K, Berger, Lieke PV, Bleeker, Fonnet E, de Bont, Eveline SJM, de Borgie, Corianne AJM, Dommering, Charlotte J, van Eijkelenburg, Natasha KA, van den Heuvel-Eibrink, Marry M, Hopman, Saskia MJ, Jongmans, Marjolijn CJ, Kors, Wijnanda A, Letteboer, Tom GW, Loeffen, Jan LCM, Merks, Johannes HM, Olderode-Berends, Maran JW, Postema, Floor AM, Wagner, Anja, Human genetics, CCA - Cancer Treatment and quality of life, Amsterdam Reproduction & Development (AR&D), Pediatric surgery, CCA - Cancer Treatment and Quality of Life, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Other departments, Paediatric Oncology, APH - Methodology, APH - Quality of Care, Paediatric Genetics, and Human Genetics

Subjects
0301 basic medicine, Male, Pediatrics, Screening Instrument, Neoplasms, Protocol, Photography, Mass Screening, Prospective Studies, Child, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Netherlands, Medicine(all), General Medicine, Syndrome, Checklist, Research Design, Child, Preschool, Medical genetics, Female, Cohort study, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Morphology, medicine.medical_specialty, Adolescent, Genetic counseling, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], 3D photography, 03 medical and health sciences, medicine, Journal Article, Humans, Clinical significance, Genetic Predisposition to Disease, Instrument Data, business.industry, Genetic Diseases, Inborn, Infant, Newborn, Infant, Paediatrics, Geneticist, 030104 developmental biology, Family medicine, Observational study, business
Abstract

Introduction Recognising a tumour predisposition syndrome (TPS) in patients with childhood cancer is of significant clinical relevance, as it affects treatment, prognosis and facilitates genetic counselling. Previous studies revealed that only half of the known TPSs are recognised during standard paediatric cancer care. In current medical practice it is impossible to refer every patient with childhood cancer to a clinical geneticist, due to limited capacity for routine genetic consultation. Therefore, we have developed a screening instrument to identify patients with childhood cancer with a high probability of having a TPS. The aim of this study is to validate the clinical screening instrument for TPS in patients with childhood cancer. Methods and analysis This study is a prospective nationwide cohort study including all newly diagnosed patients with childhood cancer in the Netherlands. The screening instrument consists of a checklist, two- and three-dimensional photographic series of the patient. 2 independent clinical geneticists will assess the content of the screening instrument. If a TPS is suspected based on the instrument data and thus further evaluation is indicated, the patient will be invited for full genetic consultation. A negative control group consists of 20% of the patients in whom a TPS is not suspected based on the instrument; they will be randomly invited for full genetic consultation. Primary outcome measurement will be sensitivity of the instrument. Ethics and dissemination The Medical Ethical Committee of the Academic Medical Centre stated that the Medical Research Involving Human Subjects Act does not apply to this study and that official approval of this study by the Committee was not required. The results will be offered for publication in peer-reviewed journals and presented at International Conferences on Oncology and Clinical Genetics. The clinical data gathered in this study will be available for all participating centres. Trial registration number NTR5605.

Published
2017

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