Please use this identifier to cite or link to this item: https://doi.org/10.1172/jci.insight.92061
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dc.titleGenomic profiling reveals mutational landscape in parathyroid carcinomas
dc.contributor.authorWang, C
dc.contributor.authorSun, J
dc.contributor.authorGuillaume, B
dc.contributor.authorGe, T
dc.contributor.authorHibar, D.P
dc.contributor.authorGreenwood, C.M.T
dc.contributor.authorQiu, A
dc.contributor.authorThe Alzheimer's Disease Neuroimaging Initiative
dc.contributor.authorPandya, C
dc.contributor.authorUzilov, A.V
dc.contributor.authorBellizzi, J
dc.contributor.authorLau, C.Y
dc.contributor.authorMoe, A.S
dc.contributor.authorStrahl, M
dc.contributor.authorHamou, W
dc.contributor.authorNewman, L.C
dc.contributor.authorFink, M.Y
dc.contributor.authorAntipin, Y
dc.contributor.authorYu, W
dc.contributor.authorStevenson, M
dc.contributor.authorCavaco, B.M
dc.contributor.authorTeh, B.T
dc.contributor.authorThakker, R.V
dc.contributor.authorMorreau, H
dc.contributor.authorSchadt, E.E
dc.contributor.authorSebra, R
dc.contributor.authorLi, S.D
dc.contributor.authorArnold, A
dc.contributor.authorChen, R
dc.date.accessioned2020-09-14T08:06:10Z
dc.date.available2020-09-14T08:06:10Z
dc.date.issued2017
dc.identifier.citationWang, C, Sun, J, Guillaume, B, Ge, T, Hibar, D.P, Greenwood, C.M.T, Qiu, A, The Alzheimer's Disease Neuroimaging Initiative, Pandya, C, Uzilov, A.V, Bellizzi, J, Lau, C.Y, Moe, A.S, Strahl, M, Hamou, W, Newman, L.C, Fink, M.Y, Antipin, Y, Yu, W, Stevenson, M, Cavaco, B.M, Teh, B.T, Thakker, R.V, Morreau, H, Schadt, E.E, Sebra, R, Li, S.D, Arnold, A, Chen, R (2017). Genomic profiling reveals mutational landscape in parathyroid carcinomas. JCI insight 2 (6) : e92061. ScholarBank@NUS Repository. https://doi.org/10.1172/jci.insight.92061
dc.identifier.issn2379-3708
dc.identifier.urihttps://scholarbank.nus.edu.sg/handle/10635/176097
dc.description.abstractParathyroid carcinoma (PC) is an extremely rare malignancy lacking effective therapeutic intervention. We generated and analyzed whole-exome sequencing data from 17 patients to identify somatic and germline genetic alterations. A panel of selected genes was sequenced in a 7-tumor expansion cohort. We show that 47% (8 of 17) of the tumors harbor somatic mutations in the CDC73 tumor suppressor, with germline inactivating variants in 4 of the 8 patients. The PI3K/AKT/mTOR pathway was altered in 21% of the 24 cases, revealing a major oncogenic pathway in PC. We observed CCND1 amplification in 29% of the 17 patients, and a previously unreported recurrent mutation in putative kinase ADCK1. We identified the first sporadic PCs with somatic mutations in the Wnt canonical pathway, complementing previously described epigenetic mechanisms mediating Wnt activation. This is the largest genomic sequencing study of PC, and represents major progress toward a full molecular characterization of this rare malignancy to inform improved and individualized treatments.
dc.sourceUnpaywall 20200831
dc.typeArticle
dc.contributor.departmentDUKE-NUS MEDICAL SCHOOL
dc.description.doi10.1172/jci.insight.92061
dc.description.sourcetitleJCI insight
dc.description.volume2
dc.description.issue6
dc.description.pagee92061
dc.published.statePublished
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