Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma
J. William Harbour,J. William Harbour,Elisha D.O. Roberson,Hima Anbunathan,Michael D. Onken,Lori A. Worley,Anne M. Bowcock +6 more
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TLDR
utations occurring exclusively at codon 625 of the SF3B1 gene, encoding splicing factor 3B subunit 1, in low-grade uveal melanomas with good prognosis are described.Abstract:
Uveal melanoma is the most common primary cancer of the eye and often results in fatal metastasis. Here, we describe mutations occurring exclusively at codon 625 of the SF3B1 gene, encoding splicing factor 3B subunit 1, in low-grade uveal melanomas with good prognosis. Thus, uveal melanoma is among a small group of cancers associated with SF3B1 mutations, and these mutations denote a distinct molecular subset of uveal melanomas.read more
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Whole-genome landscapes of major melanoma subtypes
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TL;DR: In this paper, the authors analyzed 489 cholangiocarcinoma (CCA) from 10 countries, combining whole-genome (71 cases), targeted/exome, copy-number, gene expression, and DNA methylation information.
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Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi
Catherine D. Van Raamsdonk,Vladimir Bezrookove,Gary G. R. Green,Jürgen Bauer,Lona Gaugler,Joan M. O'Brien,Elizabeth M. Simpson,Gregory S. Barsh,Boris C. Bastian +8 more
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Mutations in GNA11 in Uveal Melanoma
Catherine D. Van Raamsdonk,Klaus G. Griewank,Michelle B. Crosby,Maria C. Garrido,Swapna S. Vemula,Thomas Wiesner,Anna C. Obenauf,Werner Wackernagel,Gary G. R. Green,Nancy Bouvier,M. Mert Sozen,Gail Baimukanova,Ritu Roy,Adriana Heguy,Igor Dolgalev,Raya Khanin,Klaus J. Busam,Michael R. Speicher,Joan M. O'Brien,Boris C. Bastian +19 more
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Journal ArticleDOI
Frequent Mutation of BAP1 in Metastasizing Uveal Melanomas
J. William Harbour,Michael D. Onken,Elisha D.O. Roberson,Shenghui Duan,Li Cao,Lori A. Worley,Katie A. Matatall,Cynthia Helms,Anne M. Bowcock +8 more
TL;DR: Exome capture coupled with massively parallel sequencing is used to search for metastasis-related mutations in highly metastatic uveal melanomas of the eye and implicate loss of BAP1 in uveAL melanoma metastasis and suggest that the BAP 1 pathway may be a valuable therapeutic target.
Journal ArticleDOI
Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts
Elli Papaemmanuil,Mario Cazzola,Jacqueline Boultwood,Luca Malcovati,Paresh Vyas,David T. Bowen,Andrea Pellagatti,J. S. Wainscoat,Eva Hellström-Lindberg,Carlo Gambacorti-Passerini,Anna L. Godfrey,I. Rapado,Ana Cvejic,Ana Cvejic,Richard Rance,C. McGee,Peter R. Ellis,Laura Mudie,Phil Stephens,Stuart McLaren,Charles E. Massie,Patrick S. Tarpey,Ignacio Varela,Serena Nik-Zainal,Helen Davies,Adam Shlien,David T. Jones,Keiran Raine,Jonathon Hinton,Adam Butler,Jon W. Teague,E J Baxter,Joannah Score,Anna Gallì,M.G. Della Porta,Erica Travaglino,Michael J. Groves,Sudhir Tauro,Nikhil C. Munshi,Nikhil C. Munshi,KC Anderson,Adel K. El-Naggar,Andrej Fischer,Andrej Fischer,Ville Mustonen,Alan J. Warren,Nicholas C.P. Cross,Anthony R. Green,P A Futreal,Michael R. Stratton,Peter J. Campbell,Peter J. Campbell +51 more
TL;DR: Mutations in SF3B1 implicate abnormalities of messenger RNA splicing in the pathogenesis of myelodysplastic syndromes and were associated with down-regulation of key gene networks, including core mitochondrial pathways.
Journal ArticleDOI
SF3B1 and Other Novel Cancer Genes in Chronic Lymphocytic Leukemia
Lili Wang,Michael S. Lawrence,Youzhong Wan,Petar Stojanov,Carrie Sougnez,Kristen E. Stevenson,Lillian Werner,Andrey Sivachenko,David S. DeLuca,Li Zhang,Wandi Zhang,Alexander R. Vartanov,Stacey M. Fernandes,Natalie R. Goldstein,Eric G. Folco,Kristian Cibulskis,Bethany Tesar,Quinlan L. Sievers,Erica Shefler,Stacey Gabriel,Nir Hacohen,Robin Reed,Matthew Meyerson,Todd R. Golub,Eric S. Lander,Donna Neuberg,Jennifer R. Brown,Gad Getz,Catherine J. Wu +28 more
TL;DR: This study defines the landscape of somatic mutations in chronic lymphocytic leukemia and highlights pre-mRNA splicing as a critical cellular process contributing to chronic lymphocrytic leukemia.
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