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dc.contributor.authorChan, Sock Hoaien_US
dc.contributor.authorChew, Winstonen_US
dc.contributor.authorNur Diana Binte Ishaken_US
dc.contributor.authorLim, Weng Khongen_US
dc.contributor.authorLi, Shao-Tzuen_US
dc.contributor.authorTan, Sheng Huien_US
dc.contributor.authorTeo, Jing Xianen_US
dc.contributor.authorShaw, Tarrynen_US
dc.contributor.authorChang, Kennethen_US
dc.contributor.authorChen, Yongen_US
dc.contributor.authorIyer, Prasaden_US
dc.contributor.authorTan, Enrica Ee Karen_US
dc.contributor.authorSeng, Michaela Su-Fernen_US
dc.contributor.authorChan, Mei Yokeen_US
dc.contributor.authorTan, Ah Moyen_US
dc.contributor.authorLow, Sharon Yin Yeeen_US
dc.contributor.authorSoh, Shui Yenen_US
dc.contributor.authorLoh, Amos Hong Phengen_US
dc.contributor.authorNgeow, Joanneen_US
dc.identifier.citationChan, S. H., Chew, W., Nur Diana Binte Ishak, Lim, W. K., Li, S.-T., Tan, S. H., . . . Ngeow, J. (2018). Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours. NPJ Genomic Medicine, 3, 30-. doi:10.1038/s41525-018-0070-7en_US
dc.description.abstractAssessment 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 sequencing and multiplex ligation-dependent probe amplification on blood-derived genomic DNA. Pathogenic germline mutations were identified in ten (10%) patients across six known cancer predisposition genes: TP53, DICER1, NF1, FH, SDHD and VHL. Fifty-four (53%) patients screened positive on both checklists, including all ten pathogenic germline carriers. TP53 was most frequently mutated, affecting five children with adrenocortical carcinoma, sarcomas and diffuse astrocytoma. Disparity in prevalence of germline mutations across tumour types suggested variable genetic susceptibility and implied potential contribution of novel susceptibility genes. Only five (50%) children with pathogenic germline mutations had a family history of cancer. We conclude that CPS screening checklists are adequately sensitive to detect at-risk children and are relevant for clinical application. In addition, our study showed that 10% of Asian paediatric solid tumours have a heritable component, consistent with other populations.en_US
dc.description.sponsorshipNMRC (Natl Medical Research Council, S’pore)en_US
dc.relation.ispartofNPJ genomic medicineen_US
dc.rights© 2018 The Author(s). (published in partnership with the Center of Excellence in Genomic Medicine Research). This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit
dc.titleClinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumoursen_US
dc.typeJournal Articleen
dc.contributor.schoolLee Kong Chian School of Medicine (LKCMedicine)en_US
dc.description.versionPublished versionen_US
dc.subject.keywordsCancer Geneticsen_US
dc.subject.keywordsPaediatric Canceren_US
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