Please use this identifier to cite or link to this item: https://doi.org/10.1038/s41598-017-10333-x
Title: Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas
Authors: Chan, 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 
Keywords: tumor marker
adolescent
adult
biology
DNA damage
DNA repair
DNA sequence
female
genetic predisposition
genetics
germline mutation
human
male
middle aged
oncogene
procedures
sarcoma
young adult
Adolescent
Adult
Biomarkers, Tumor
Computational Biology
DNA Damage
DNA Repair
Female
Genetic Predisposition to Disease
Germ-Line Mutation
Humans
Male
Middle Aged
Oncogenes
Sarcoma
Sequence Analysis, DNA
Young Adult
Issue Date: 2017
Citation: Chan, 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
Abstract: Associations 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).
Source Title: Scientific Reports
URI: https://scholarbank.nus.edu.sg/handle/10635/175173
ISSN: 20452322
DOI: 10.1038/s41598-017-10333-x
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