D
Diana M. Merino
Researcher at Friends of Cancer Research
Publications - 30
Citations - 2438
Diana M. Merino is an academic researcher from Friends of Cancer Research. The author has contributed to research in topics: Choroid plexus & Cancer. The author has an hindex of 15, co-authored 29 publications receiving 1814 citations. Previous affiliations of Diana M. Merino include University of Toronto & National Institutes of Health.
Papers
More filters
Journal ArticleDOI
Genome Sequencing of Pediatric Medulloblastoma Links Catastrophic DNA Rearrangements with TP53 Mutations
Tobias Rausch,David T.W. Jones,Marc Zapatka,Adrian M. Stütz,Thomas Zichner,Joachim Weischenfeldt,Natalie Jäger,Marc Remke,David Shih,Paul A. Northcott,Elke Pfaff,Jelena Tica,Qi Wang,Luca Massimi,Hendrik Witt,Sebastian Bender,Sabrina Pleier,Huriye Cin,Cynthia Hawkins,Christian Beck,Andreas von Deimling,Volkmar Hans,Benedikt Brors,Roland Eils,Wolfram Scheurlen,Jonathon Blake,Vladimir Benes,Andreas E. Kulozik,Olaf Witt,Olaf Witt,Dianna Martin,Cindy Zhang,Rinnat Porat,Diana M. Merino,Jonathan D. Wasserman,Nada Jabado,Adam M. Fontebasso,Lars Bullinger,Frank G. Rücker,Konstanze Döhner,Hartmut Döhner,Jan Koster,Jan J. Molenaar,Rogier Versteeg,Marcel Kool,Uri Tabori,David Malkin,Andrey Korshunov,Michael D. Taylor,Peter Lichter,Stefan M. Pfister,Jan O. Korbel +51 more
TL;DR: The whole-genome sequencing-based analysis of a Sonic-Hedgehog medulloblastoma brain tumor from a patient with a germline TP53 mutation is reported, uncovering massive, complex chromosome rearrangements and connecting p53 status and chromothripsis in specific tumor types.
Journal ArticleDOI
Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.
Adam Shlien,Brittany Campbell,Richard de Borja,Ludmil B. Alexandrov,Daniele Merico,David C. Wedge,Peter Van Loo,Patrick S. Tarpey,Paul Coupland,Sam Behjati,Aaron Pollett,Tatiana Lipman,Abolfazl Heidari,Shriya Deshmukh,Na'ama Avitzur,Bettina Meier,Moritz Gerstung,Ye Hong,Diana M. Merino,Manasa Ramakrishna,Marc Remke,Roland Arnold,Gagan B. Panigrahi,Neha P. Thakkar,Karl P. Hodel,Erin E. Henninger,A. Yasemin Göksenin,Doua Bakry,George S. Charames,Harriet Druker,Jordan Lerner-Ellis,Matthew Mistry,Rina Dvir,Ronald Grant,Ronit Elhasid,Roula Farah,Glenn Taylor,Paul C. Nathan,Sarah Alexander,Shay Ben-Shachar,Simon C. Ling,Steven Gallinger,Shlomi Constantini,Peter B. Dirks,Annie Huang,Stephen W. Scherer,Richard Grundy,Carol Durno,Melyssa Aronson,Anton Gartner,M. Stephen Meyn,Michael D. Taylor,Zachary F. Pursell,Christopher E. Pearson,David Malkin,P. Andrew Futreal,Michael R. Stratton,Eric Bouffet,Cynthia Hawkins,Peter J. Campbell,Uri Tabori +60 more
TL;DR: A new mechanism of cancer progression is suggested in which mutations develop in a rapid burst after ablation of replication repair, which implies a threshold compatible with cancer-cell survival.
Journal ArticleDOI
Establishing guidelines to harmonize tumor mutational burden (TMB): in silico assessment of variation in TMB quantification across diagnostic platforms: phase I of the Friends of Cancer Research TMB Harmonization Project.
Diana M. Merino,Lisa M. McShane,David Fabrizio,Vincent Funari,Shu-Jen Chen,James R. White,Paul Wenz,Jonathan F. Baden,J. Carl Barrett,Ruchi Chaudhary,Li Chen,Wangjuh (Sting) Chen,Jen-Hao Cheng,Dinesh Cyanam,Jennifer S Dickey,Vikas Gupta,Matthew D. Hellmann,Elena Helman,Yali Li,Joerg Maas,Arnaud Papin,Rajesh Patidar,Katie Quinn,Naiyer A. Rizvi,Hongseok Tae,Christine K. Ward,Mingchao Xie,Ahmet Zehir,Chen Zhao,Manfred Dietel,Albrecht Stenzinger,Mark Stewart,Jeff Allen +32 more
TL;DR: Encouraging uptake of TMB as a predictive biomarker in the clinic creates an urgent need to bring stakeholders together to agree on the harmonization of key aspects of panel-based TMB estimation, such as the standardization of T MB reporting, standardized of analytical validation studies and the alignment ofPanel TMB values with a reference standard.
Journal ArticleDOI
Methylation of the TERT promoter and risk stratification of childhood brain tumours: an integrative genomic and molecular study
Pedro Castelo-Branco,Sanaa Choufani,Stephen C. Mack,Denis Gallagher,Cindy Zhang,Tatiana Lipman,Nataliya Zhukova,Erin Walker,Dianna Martin,Diana M. Merino,Jonathan D. Wasserman,Cynthia Elizabeth,Noa Alon,Libo Zhang,Volker Hovestadt,Marcel Kool,David T.W. Jones,Gelareh Zadeh,Sidney Croul,Cynthia Hawkins,Johann Hitzler,Jean C.Y. Wang,Sylvain Baruchel,Peter B. Dirks,David Malkin,Stefan M. Pfister,Michael D. Taylor,Rosanna Weksberg,Uri Tabori +28 more
TL;DR: Hypermethylation of the UTSS region in the TERT promoter is associated with TERT expression in cancers and is a potentially accessible biomarker for various cancers in paediatric brain tumours.
Journal ArticleDOI
Tumor mutational burden standardization initiatives: Recommendations for consistent tumor mutational burden assessment in clinical samples to guide immunotherapy treatment decisions.
Albrecht Stenzinger,Jeff Allen,Jörg Maas,Mark Stewart,Diana M. Merino,Madison M. Wempe,Manfred Dietel +6 more
TL;DR: Recommendations should be followed to minimize variability in TMB estimation and reporting, which will ensure reliable and reproducible identification of patients who are likely to benefit from immune checkpoint inhibitors.