title: Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
  
  
  
  NTR5605.
authors.affiliation: Department of Paediatric Oncology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: Floor A M
authors.initials: FA
authors.lastname: Postema
authors.affiliation: Department of Paediatric Oncology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.|Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
authors.forename: Saskia M J
authors.initials: SM
authors.lastname: Hopman
authors.affiliation: Clinical Research Unit, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: Corianne A J M
authors.initials: CA
authors.lastname: de Borgie
authors.affiliation: Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, UK.
authors.forename: Peter
authors.initials: P
authors.lastname: Hammond
authors.affiliation: Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: Raoul C
authors.initials: RC
authors.lastname: Hennekam
authors.affiliation: Department of Paediatric Oncology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: Johannes H M
authors.initials: JH
authors.lastname: Merks
authors.forename: Cora M
authors.initials: CM
authors.lastname: Aalfs
authors.forename: Jakob K
authors.initials: JK
authors.lastname: Anninga
authors.forename: Lieke Pv
authors.initials: LP
authors.lastname: Berger
authors.forename: Fonnet E
authors.initials: FE
authors.lastname: Bleeker
authors.forename: Eveline Sjm
authors.initials: ES
authors.lastname: de Bont
authors.forename: Corianne Ajm
authors.initials: CA
authors.lastname: de Borgie
authors.forename: Charlotte J
authors.initials: CJ
authors.lastname: Dommering
authors.forename: Natasha Ka
authors.initials: NK
authors.lastname: van Eijkelenburg
authors.forename: Peter
authors.initials: P
authors.lastname: Hammond
authors.forename: Raoul C
authors.initials: RC
authors.lastname: Hennekam
authors.forename: Marry M
authors.initials: MM
authors.lastname: van den Heuvel-Eibrink
authors.forename: Saskia Mj
authors.initials: SM
authors.lastname: Hopman
authors.forename: Marjolijn Cj
authors.initials: MC
authors.lastname: Jongmans
authors.forename: Wijnanda A
authors.initials: WA
authors.lastname: Kors
authors.forename: Tom Gw
authors.initials: TG
authors.lastname: Letteboer
authors.forename: Jan Lcm
authors.initials: JL
authors.lastname: Loeffen
authors.forename: Johannes Hm
authors.initials: JH
authors.lastname: Merks
authors.forename: Maran Jw
authors.initials: MJ
authors.lastname: Olderode-Berends
authors.forename: Floor Am
authors.initials: FA
authors.lastname: Postema
authors.forename: Anja
authors.initials: A
authors.lastname: Wagner
mesh_terms: D000293:Adolescent; D057189:Checklist; D002648:Child; D002675:Child, Preschool; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening / Q000379:methods*; D009369:Neoplasms / Q000209:etiology / Q000235:genetics*; D009426:Netherlands; D010781:Photography; D011446:Prospective Studies; D012107:Research Design; D013577:Syndrome
keywords: 3D photography; Morphology; Screening Instrument