title: Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool.
abstract: Genetic predisposition for childhood cancer is under diagnosed. Identifying these patients may lead to therapy adjustments in case of syndrome-related increased toxicity or resistant disease and syndrome-specific screening programs may lead to early detection of a further independent malignancy. Cancer surveillance might also be warranted for affected relatives and detection of a genetic mutation can allow for reproductive counseling. Here we present an easy-to-use selection tool, based on a systematic review of pediatric cancer predisposing syndromes, to identify patients who may benefit from genetic counseling. The selection tool involves five questions concerning family history, the type of malignancy, multiple primary malignancies, specific features and excessive toxicity, which results in the selection of those patients that may benefit from referral to a clinical geneticist.
authors.affiliation: Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands. Electronic address: marjolijn.jongmans@radboudumc.nl.
authors.forename: Marjolijn C J
authors.initials: MC
authors.lastname: Jongmans
authors.affiliation: Department of Pediatric Oncology, Erasmus MC - Sophia Children's Hospital, Rotterdam, The Netherlands.
authors.forename: Jan L C M
authors.initials: JL
authors.lastname: Loeffen
authors.affiliation: Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
authors.forename: Esmé
authors.initials: E
authors.lastname: Waanders
authors.affiliation: Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
authors.forename: Peter M
authors.initials: PM
authors.lastname: Hoogerbrugge
authors.affiliation: Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
authors.forename: Marjolijn J L
authors.initials: MJ
authors.lastname: Ligtenberg
authors.affiliation: Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
authors.forename: Roland P
authors.initials: RP
authors.lastname: Kuiper
authors.affiliation: Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
authors.forename: Nicoline
authors.initials: N
authors.lastname: Hoogerbrugge
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D009369:Neoplasms / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D010641:Phenotype; D011159:Population Surveillance / Q000379:methods; D012306:Risk; D013577:Syndrome
keywords: Cancer susceptibility; Childhood cancer; Congenital anomalies; Dysmorphisms; Family history; Selection tool