Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma. Robertson, A. G., Shih, J., Yau, C., Gibb, E. A., Oba, J., Mungall, K. L., Hess, J. M., Uzunangelov, V., Walter, V., Danilova, L., Lichtenberg, T. M., Kucherlapati, M., Kimes, P. K., Tang, M., Penson, A., Babur, O., Akbani, R., Bristow, C. A., Hoadley, K. A., Iype, L., Chang, M. T., Cherniack, A. D., Benz, C., Mills, G. B., Verhaak, R. G. W., Griewank, K. G., Felau, I., Zenklusen, J. C., Gershenwald, J. E., Schoenfield, L., Lazar, A. J., Abdel-Rahman, M. H., Roman-Roman, S., Stern, M. H., Cebulla, C. M., Williams, M. D., Jager, M. J., Coupland, S. E., Esmaeli, B., Kandoth, C., & Woodman, S. E. Cancer Cell, 32(2):204-220.e15, 2017. 1878-3686 Robertson, A Gordon Shih, Juliann Yau, Christina Gibb, Ewan A Oba, Junna Mungall, Karen L Hess, Julian M Uzunangelov, Vladislav Walter, Vonn Danilova, Ludmila Lichtenberg, Tara M Kucherlapati, Melanie Kimes, Patrick K Tang, Ming Penson, Alexander Babur, Ozgun Akbani, Rehan Bristow, Christopher A Hoadley, Katherine A Iype, Lisa Chang, Matthew T TCGA Research Network Cherniack, Andrew D Benz, Christopher Mills, Gordon B Verhaak, Roel G W Griewank, Klaus G Felau, Ina Zenklusen, Jean C Gershenwald, Jeffrey E Schoenfield, Lynn Lazar, Alexander J Abdel-Rahman, Mohamed H Roman-Roman, Sergio Stern, Marc-Henri Cebulla, Colleen M Williams, Michelle D Jager, Martine J Coupland, Sarah E Esmaeli, Bita Kandoth, Cyriac Woodman, Scott E P30 CA016672/CA/NCI NIH HHS/United States U24 CA143882/CA/NCI NIH HHS/United States U24 CA143866/CA/NCI NIH HHS/United States U54 HG003273/HG/NHGRI NIH HHS/United States U24 CA144025/CA/NCI NIH HHS/United States U24 CA143840/CA/NCI NIH HHS/United States U24 CA143843/CA/NCI NIH HHS/United States U24 CA210974/CA/NCI NIH HHS/United States U24 CA143858/CA/NCI NIH HHS/United States U24 CA143848/CA/NCI NIH HHS/United States P50 CA083639/CA/NCI NIH HHS/United States U54 HG003079/HG/NHGRI NIH HHS/United States P30 CA016058/CA/NCI NIH HHS/United States U24 CA210949/CA/NCI NIH HHS/United States K08 EY022672/EY/NEI NIH HHS/United States U24 CA143867/CA/NCI NIH HHS/United States U24 CA210990/CA/NCI NIH HHS/United States U54 HG003067/HG/NHGRI NIH HHS/United States U24 CA143835/CA/NCI NIH HHS/United States U24 CA143845/CA/NCI NIH HHS/United States U24 CA143799/CA/NCI NIH HHS/United States U24 CA210969/CA/NCI NIH HHS/United States U24 CA143883/CA/NCI NIH HHS/United States U24 CA210999/CA/NCI NIH HHS/United States Journal Article United States 2017/08/16 Cancer Cell. 2017 Aug 14;32(2):204-220.e15. doi: 10.1016/j.ccell.2017.07.003.doi abstract bibtex Comprehensive multiplatform analysis of 80 uveal melanomas (UM) identifies four molecularly distinct, clinically relevant subtypes: two associated with poor-prognosis monosomy 3 (M3) and two with better-prognosis disomy 3 (D3). We show that BAP1 loss follows M3 occurrence and correlates with a global DNA methylation state that is distinct from D3-UM. Poor-prognosis M3-UM divide into subsets with divergent genomic aberrations, transcriptional features, and clinical outcomes. We report change-of-function SRSF2 mutations. Within D3-UM, EIF1AX- and SRSF2/SF3B1-mutant tumors have distinct somatic copy number alterations and DNA methylation profiles, providing insight into the biology of these low- versus intermediate-risk clinical mutation subtypes.
@article{RN6105,
author = {Robertson, A. G. and Shih, J. and Yau, C. and Gibb, E. A. and Oba, J. and Mungall, K. L. and Hess, J. M. and Uzunangelov, V. and Walter, V. and Danilova, L. and Lichtenberg, T. M. and Kucherlapati, M. and Kimes, P. K. and Tang, M. and Penson, A. and Babur, O. and Akbani, R. and Bristow, C. A. and Hoadley, K. A. and Iype, L. and Chang, M. T. and Cherniack, A. D. and Benz, C. and Mills, G. B. and Verhaak, R. G. W. and Griewank, K. G. and Felau, I. and Zenklusen, J. C. and Gershenwald, J. E. and Schoenfield, L. and Lazar, A. J. and Abdel-Rahman, M. H. and Roman-Roman, S. and Stern, M. H. and Cebulla, C. M. and Williams, M. D. and Jager, M. J. and Coupland, S. E. and Esmaeli, B. and Kandoth, C. and Woodman, S. E.},
title = {Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma},
journal = {Cancer Cell},
volume = {32},
number = {2},
pages = {204-220.e15},
note = {1878-3686
Robertson, A Gordon
Shih, Juliann
Yau, Christina
Gibb, Ewan A
Oba, Junna
Mungall, Karen L
Hess, Julian M
Uzunangelov, Vladislav
Walter, Vonn
Danilova, Ludmila
Lichtenberg, Tara M
Kucherlapati, Melanie
Kimes, Patrick K
Tang, Ming
Penson, Alexander
Babur, Ozgun
Akbani, Rehan
Bristow, Christopher A
Hoadley, Katherine A
Iype, Lisa
Chang, Matthew T
TCGA Research Network
Cherniack, Andrew D
Benz, Christopher
Mills, Gordon B
Verhaak, Roel G W
Griewank, Klaus G
Felau, Ina
Zenklusen, Jean C
Gershenwald, Jeffrey E
Schoenfield, Lynn
Lazar, Alexander J
Abdel-Rahman, Mohamed H
Roman-Roman, Sergio
Stern, Marc-Henri
Cebulla, Colleen M
Williams, Michelle D
Jager, Martine J
Coupland, Sarah E
Esmaeli, Bita
Kandoth, Cyriac
Woodman, Scott E
P30 CA016672/CA/NCI NIH HHS/United States
U24 CA143882/CA/NCI NIH HHS/United States
U24 CA143866/CA/NCI NIH HHS/United States
U54 HG003273/HG/NHGRI NIH HHS/United States
U24 CA144025/CA/NCI NIH HHS/United States
U24 CA143840/CA/NCI NIH HHS/United States
U24 CA143843/CA/NCI NIH HHS/United States
U24 CA210974/CA/NCI NIH HHS/United States
U24 CA143858/CA/NCI NIH HHS/United States
U24 CA143848/CA/NCI NIH HHS/United States
P50 CA083639/CA/NCI NIH HHS/United States
U54 HG003079/HG/NHGRI NIH HHS/United States
P30 CA016058/CA/NCI NIH HHS/United States
U24 CA210949/CA/NCI NIH HHS/United States
K08 EY022672/EY/NEI NIH HHS/United States
U24 CA143867/CA/NCI NIH HHS/United States
U24 CA210990/CA/NCI NIH HHS/United States
U54 HG003067/HG/NHGRI NIH HHS/United States
U24 CA143835/CA/NCI NIH HHS/United States
U24 CA143845/CA/NCI NIH HHS/United States
U24 CA143799/CA/NCI NIH HHS/United States
U24 CA210969/CA/NCI NIH HHS/United States
U24 CA143883/CA/NCI NIH HHS/United States
U24 CA210999/CA/NCI NIH HHS/United States
Journal Article
United States
2017/08/16
Cancer Cell. 2017 Aug 14;32(2):204-220.e15. doi: 10.1016/j.ccell.2017.07.003.},
abstract = {Comprehensive multiplatform analysis of 80 uveal melanomas (UM) identifies four molecularly distinct, clinically relevant subtypes: two associated with poor-prognosis monosomy 3 (M3) and two with better-prognosis disomy 3 (D3). We show that BAP1 loss follows M3 occurrence and correlates with a global DNA methylation state that is distinct from D3-UM. Poor-prognosis M3-UM divide into subsets with divergent genomic aberrations, transcriptional features, and clinical outcomes. We report change-of-function SRSF2 mutations. Within D3-UM, EIF1AX- and SRSF2/SF3B1-mutant tumors have distinct somatic copy number alterations and DNA methylation profiles, providing insight into the biology of these low- versus intermediate-risk clinical mutation subtypes.},
keywords = {Biomarkers, Tumor/*genetics
DNA Copy Number Variations
*DNA Methylation
Eukaryotic Initiation Factor-1/genetics
*Gene Expression Regulation, Neoplastic
Humans
Melanoma/classification/*genetics
Monosomy
*Mutation
Phosphoproteins/genetics
Prognosis
RNA Splicing Factors/genetics
Serine-Arginine Splicing Factors/genetics
Tumor Suppressor Proteins/genetics
Ubiquitin Thiolesterase/genetics
Uveal Neoplasms/classification/*genetics
Eif1ax
Gna11
Gnaq
Sf3b1
Srsf2
Tcga
molecular subtypes
monosomy 3
noncoding RNA
uveal melanoma},
ISSN = {1535-6108 (Print)
1535-6108},
DOI = {10.1016/j.ccell.2017.07.003},
year = {2017},
type = {Journal Article}
}
Downloads: 0
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M. and Uzunangelov, V. and Walter, V. and Danilova, L. and Lichtenberg, T. M. and Kucherlapati, M. and Kimes, P. K. and Tang, M. and Penson, A. and Babur, O. and Akbani, R. and Bristow, C. A. and Hoadley, K. A. and Iype, L. and Chang, M. T. and Cherniack, A. D. and Benz, C. and Mills, G. B. and Verhaak, R. G. W. and Griewank, K. G. and Felau, I. and Zenklusen, J. C. and Gershenwald, J. E. and Schoenfield, L. and Lazar, A. J. and Abdel-Rahman, M. H. and Roman-Roman, S. and Stern, M. H. and Cebulla, C. M. and Williams, M. D. and Jager, M. J. and Coupland, S. E. and Esmaeli, B. and Kandoth, C. and Woodman, S. E.},\n title = {Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma},\n journal = {Cancer Cell},\n volume = {32},\n number = {2},\n pages = {204-220.e15},\n note = {1878-3686\nRobertson, A Gordon\nShih, Juliann\nYau, Christina\nGibb, Ewan A\nOba, Junna\nMungall, Karen L\nHess, Julian M\nUzunangelov, Vladislav\nWalter, Vonn\nDanilova, Ludmila\nLichtenberg, Tara M\nKucherlapati, Melanie\nKimes, Patrick K\nTang, Ming\nPenson, Alexander\nBabur, Ozgun\nAkbani, Rehan\nBristow, Christopher A\nHoadley, Katherine A\nIype, Lisa\nChang, Matthew T\nTCGA Research Network\nCherniack, Andrew D\nBenz, Christopher\nMills, Gordon B\nVerhaak, Roel G W\nGriewank, Klaus G\nFelau, Ina\nZenklusen, Jean C\nGershenwald, Jeffrey E\nSchoenfield, Lynn\nLazar, Alexander J\nAbdel-Rahman, Mohamed H\nRoman-Roman, Sergio\nStern, Marc-Henri\nCebulla, Colleen M\nWilliams, Michelle D\nJager, Martine J\nCoupland, Sarah E\nEsmaeli, Bita\nKandoth, Cyriac\nWoodman, Scott E\nP30 CA016672/CA/NCI NIH HHS/United States\nU24 CA143882/CA/NCI NIH HHS/United States\nU24 CA143866/CA/NCI NIH HHS/United States\nU54 HG003273/HG/NHGRI NIH HHS/United States\nU24 CA144025/CA/NCI NIH HHS/United States\nU24 CA143840/CA/NCI NIH HHS/United States\nU24 CA143843/CA/NCI NIH HHS/United States\nU24 CA210974/CA/NCI NIH HHS/United States\nU24 CA143858/CA/NCI NIH HHS/United States\nU24 CA143848/CA/NCI NIH HHS/United States\nP50 CA083639/CA/NCI NIH HHS/United States\nU54 HG003079/HG/NHGRI NIH HHS/United States\nP30 CA016058/CA/NCI NIH HHS/United States\nU24 CA210949/CA/NCI NIH HHS/United States\nK08 EY022672/EY/NEI NIH HHS/United States\nU24 CA143867/CA/NCI NIH HHS/United States\nU24 CA210990/CA/NCI NIH HHS/United States\nU54 HG003067/HG/NHGRI NIH HHS/United States\nU24 CA143835/CA/NCI NIH HHS/United States\nU24 CA143845/CA/NCI NIH HHS/United States\nU24 CA143799/CA/NCI NIH HHS/United States\nU24 CA210969/CA/NCI NIH HHS/United States\nU24 CA143883/CA/NCI NIH HHS/United States\nU24 CA210999/CA/NCI NIH HHS/United States\nJournal Article\nUnited States\n2017/08/16\nCancer Cell. 2017 Aug 14;32(2):204-220.e15. doi: 10.1016/j.ccell.2017.07.003.},\n abstract = {Comprehensive multiplatform analysis of 80 uveal melanomas (UM) identifies four molecularly distinct, clinically relevant subtypes: two associated with poor-prognosis monosomy 3 (M3) and two with better-prognosis disomy 3 (D3). We show that BAP1 loss follows M3 occurrence and correlates with a global DNA methylation state that is distinct from D3-UM. Poor-prognosis M3-UM divide into subsets with divergent genomic aberrations, transcriptional features, and clinical outcomes. We report change-of-function SRSF2 mutations. Within D3-UM, EIF1AX- and SRSF2/SF3B1-mutant tumors have distinct somatic copy number alterations and DNA methylation profiles, providing insight into the biology of these low- versus intermediate-risk clinical mutation subtypes.},\n keywords = {Biomarkers, Tumor/*genetics\nDNA Copy Number Variations\n*DNA Methylation\nEukaryotic Initiation Factor-1/genetics\n*Gene Expression Regulation, Neoplastic\nHumans\nMelanoma/classification/*genetics\nMonosomy\n*Mutation\nPhosphoproteins/genetics\nPrognosis\nRNA Splicing Factors/genetics\nSerine-Arginine Splicing Factors/genetics\nTumor Suppressor Proteins/genetics\nUbiquitin Thiolesterase/genetics\nUveal Neoplasms/classification/*genetics\nEif1ax\nGna11\nGnaq\nSf3b1\nSrsf2\nTcga\nmolecular subtypes\nmonosomy 3\nnoncoding RNA\nuveal melanoma},\n ISSN = {1535-6108 (Print)\n1535-6108},\n DOI = {10.1016/j.ccell.2017.07.003},\n year = {2017},\n type = {Journal Article}\n}\n\n","author_short":["Robertson, A. G.","Shih, J.","Yau, C.","Gibb, E. 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