Please use this identifier to cite or link to this item: https://doi.org/10.1038/ng.2806
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dc.titleExome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers
dc.contributor.authorChan-On, W.
dc.contributor.authorNairismägi, M.-L.
dc.contributor.authorOng, C.K.
dc.contributor.authorLim, W.K.
dc.contributor.authorDima, S.
dc.contributor.authorPairojkul, C.
dc.contributor.authorLim, K.H.
dc.contributor.authorMcPherson, J.R.
dc.contributor.authorCutcutache, I.
dc.contributor.authorHeng, H.L.
dc.contributor.authorOoi, L.
dc.contributor.authorChung, A.
dc.contributor.authorChow, P.
dc.contributor.authorCheow, P.C.
dc.contributor.authorLee, S.Y.
dc.contributor.authorChoo, S.P.
dc.contributor.authorTan, I.B.H.
dc.contributor.authorDuda, D.
dc.contributor.authorNastase, A.
dc.contributor.authorMyint, S.S.
dc.contributor.authorWong, B.H.
dc.contributor.authorGan, A.
dc.contributor.authorRajasegaran, V.
dc.contributor.authorNg, C.C.Y.
dc.contributor.authorNagarajan, S.
dc.contributor.authorJusakul, A.
dc.contributor.authorZhang, S.
dc.contributor.authorVohra, P.
dc.contributor.authorYu, W.
dc.contributor.authorHuang, D.
dc.contributor.authorSithithaworn, P.
dc.contributor.authorYongvanit, P.
dc.contributor.authorWongkham, S.
dc.contributor.authorKhuntikeo, N.
dc.contributor.authorBhudhisawasdi, V.
dc.contributor.authorPopescu, I.
dc.contributor.authorRozen, S.G.
dc.contributor.authorTan, P.
dc.contributor.authorTeh, B.T.
dc.date.accessioned2014-07-04T03:09:34Z
dc.date.available2014-07-04T03:09:34Z
dc.date.issued2013-12
dc.identifier.citationChan-On, W., Nairismägi, M.-L., Ong, C.K., Lim, W.K., Dima, S., Pairojkul, C., Lim, K.H., McPherson, J.R., Cutcutache, I., Heng, H.L., Ooi, L., Chung, A., Chow, P., Cheow, P.C., Lee, S.Y., Choo, S.P., Tan, I.B.H., Duda, D., Nastase, A., Myint, S.S., Wong, B.H., Gan, A., Rajasegaran, V., Ng, C.C.Y., Nagarajan, S., Jusakul, A., Zhang, S., Vohra, P., Yu, W., Huang, D., Sithithaworn, P., Yongvanit, P., Wongkham, S., Khuntikeo, N., Bhudhisawasdi, V., Popescu, I., Rozen, S.G., Tan, P., Teh, B.T. (2013-12). Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers. Nature Genetics 45 (12) : 1474-1478. ScholarBank@NUS Repository. https://doi.org/10.1038/ng.2806
dc.identifier.issn10614036
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/77854
dc.description.abstractThe impact of different carcinogenic exposures on the specific patterns of somatic mutation in human tumors remains unclear. To address this issue, we profiled 209 cholangiocarcinomas (CCAs) from Asia and Europe, including 108 cases caused by infection with the liver fluke Opisthorchis viverrini and 101 cases caused by non-O. viverrini-related etiologies. Whole-exome sequencing (n = 15) and prevalence screening (n = 194) identified recurrent somatic mutations in BAP1 and ARID1A, neither of which, to our knowledge, has previously been reported to be mutated in CCA. Comparisons between intrahepatic O. viverrini-related and non-O. viverrini-related CCAs demonstrated statistically significant differences in mutation patterns: BAP1, IDH1 and IDH2 were more frequently mutated in non-O. viverrini CCAs, whereas TP53 mutations showed the reciprocal pattern. Functional studies demonstrated tumor suppressive functions for BAP1 and ARID1A, establishing the role of chromatin modulators in CCA pathogenesis. These findings indicate that different causative etiologies may induce distinct somatic alterations, even within the same tumor type.
dc.description.urihttp://libproxy1.nus.edu.sg/login?url=http://dx.doi.org/10.1038/ng.2806
dc.sourceScopus
dc.typeArticle
dc.contributor.departmentCOMPUTER SCIENCE
dc.contributor.departmentDUKE-NUS GRADUATE MEDICAL SCHOOL S'PORE
dc.description.doi10.1038/ng.2806
dc.description.sourcetitleNature Genetics
dc.description.volume45
dc.description.issue12
dc.description.page1474-1478
dc.description.codenNGENE
dc.identifier.isiut000327715800014
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