biostudies-literatureChan SHMOH | National Medical Research CouncilTan Cheng Lim Research and Education FundVIVA Foundation for Children with Cancer30https://www.ebi.ac.uk/biostudies/studies/S-EPMC6237849biostudies-literatureUnknown3Assessment of cancer predisposition syndromes (CPS) in childhood tumours is challenging to paediatric oncologists due to inconsistent recognizable clinical phenotypes and family histories, especially in cohorts with unknown prevalence of germline mutations. Screening checklists were developed to facilitate CPS detection in paediatric patients; however, their clinical value have yet been validated. Our study aims to assess the utility of clinical screening checklists validated by genetic sequencing in an Asian cohort of childhood tumours. We evaluated 102 patients under age 18 years recruited over a period of 31 months. Patient records were reviewed against two published checklists and germline mutations in 100 cancer-associated genes were profiled through a combination of whole-exome sequeNPJ genomic medicineClinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours.PMC6237849NMRC/CSA-INV/0017/2017Chan SHLoh AHPChang KTan EEKIyer PSeng MSLow SYYTeo JXTan AMLim WKNgeow JChew WTan SHSoh SYShaw TIshak NDBChan MYChen YLi STfalseClinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours.Assessment of cancer predisposition syndromes (CPS) in childhood tumours is challenging to paediatric oncologists due to inconsistent recognizable clinical phenotypes and family histories, especially in cohorts with unknown prevalence of germline mutations. Screening checklists were developed to facilitate CPS detection in paediatric patients; however, their clinical value have yet been validated. Our study aims to assess the utility of clinical screening checklists validated by genetic sequencing in an Asian cohort of childhood tumours. We evaluated 102 patients under age 18 years recruited over a period of 31 months. Patient records were reviewed against two published checklists and germline mutations in 100 cancer-associated genes were profiled through a combination of whole-exome seque2018-01-01T00:00:00Z20182025-04-05T12:27:43.447Z2019-03-27T00:08:31ZS-EPMC62378493045598210.1038/s41525-018-0070-7