Please use this identifier to cite or link to this item: https://doi.org/10.1038/s41598-017-10333-x
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dc.titleGermline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas
dc.contributor.authorChan, S.H
dc.contributor.authorLim, W.K
dc.contributor.authorIshak, N.D.B
dc.contributor.authorLi, S.-T
dc.contributor.authorGoh, W.L
dc.contributor.authorTan, G.S
dc.contributor.authorLim, K.H
dc.contributor.authorTeo, M
dc.contributor.authorYoung, C.N.C
dc.contributor.authorMalik, S
dc.contributor.authorTan, M.H
dc.contributor.authorTeh, J.Y.H
dc.contributor.authorChin, F.K.C
dc.contributor.authorKesavan, S
dc.contributor.authorSelvarajan, S
dc.contributor.authorTan, P
dc.contributor.authorTeh, B.T
dc.contributor.authorSoo, K.C
dc.contributor.authorFarid, M
dc.contributor.authorQuek, R
dc.contributor.authorNgeow, J
dc.date.accessioned2020-09-09T04:51:46Z
dc.date.available2020-09-09T04:51:46Z
dc.date.issued2017
dc.identifier.citationChan, S.H, Lim, W.K, Ishak, N.D.B, Li, S.-T, Goh, W.L, Tan, G.S, Lim, K.H, Teo, M, Young, C.N.C, Malik, S, Tan, M.H, Teh, J.Y.H, Chin, F.K.C, Kesavan, S, Selvarajan, S, Tan, P, Teh, B.T, Soo, K.C, Farid, M, Quek, R, Ngeow, J (2017). Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas. Scientific Reports 7 (1) : 10660. ScholarBank@NUS Repository. https://doi.org/10.1038/s41598-017-10333-x
dc.identifier.issn20452322
dc.identifier.urihttps://scholarbank.nus.edu.sg/handle/10635/175173
dc.description.abstractAssociations of sarcoma with inherited cancer syndromes implicate genetic predisposition in sarcoma development. However, due to the apparently sporadic nature of sarcomas, little attention has been paid to the role genetic susceptibility in sporadic sarcoma. To address this, we performed targeted-genomic sequencing to investigate the prevalence of germline mutations in known cancer-associated genes within an Asian cohort of sporadic sarcoma patients younger than 50 years old. We observed 13.6% (n = 9) amongst 66 patients harbour at least one predicted pathogenic germline mutation in 10 cancer-associated genes including ATM, BRCA2, ERCC4, FANCC, FANCE, FANCI, MSH6, POLE, SDHA and TP53. The most frequently affected genes are involved in the DNA damage repair pathway, with a germline mutation prevalence of 10.6%. Our findings suggests that genetic predisposition plays a larger role than expected in our Asian cohort of sporadic sarcoma, therefore clinicians should be aware of the possibility that young sarcoma patients may be carriers of inherited mutations in cancer genes and should be considered for genetic testing, regardless of family history. The prevalence of germline mutations in DNA damage repair genes imply that therapeutic strategies exploiting the vulnerabilities resulting from impaired DNA repair may be promising areas for translational research. © 2017 The Author(s).
dc.sourceUnpaywall 20200831
dc.subjecttumor marker
dc.subjectadolescent
dc.subjectadult
dc.subjectbiology
dc.subjectDNA damage
dc.subjectDNA repair
dc.subjectDNA sequence
dc.subjectfemale
dc.subjectgenetic predisposition
dc.subjectgenetics
dc.subjectgermline mutation
dc.subjecthuman
dc.subjectmale
dc.subjectmiddle aged
dc.subjectoncogene
dc.subjectprocedures
dc.subjectsarcoma
dc.subjectyoung adult
dc.subjectAdolescent
dc.subjectAdult
dc.subjectBiomarkers, Tumor
dc.subjectComputational Biology
dc.subjectDNA Damage
dc.subjectDNA Repair
dc.subjectFemale
dc.subjectGenetic Predisposition to Disease
dc.subjectGerm-Line Mutation
dc.subjectHumans
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectOncogenes
dc.subjectSarcoma
dc.subjectSequence Analysis, DNA
dc.subjectYoung Adult
dc.typeArticle
dc.contributor.departmentDUKE-NUS MEDICAL SCHOOL
dc.contributor.departmentDEPT OF PHYSIOLOGY
dc.contributor.departmentDEPT OF SURGERY
dc.description.doi10.1038/s41598-017-10333-x
dc.description.sourcetitleScientific Reports
dc.description.volume7
dc.description.issue1
dc.description.page10660
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