Germline Mutations in Predisposition Genes in Pediatric Cancer
Jinghui Zhang,Michael Walsh,Gang Wu,Michael N. Edmonson,Tanja A. Gruber,John Easton,Dale J. Hedges,Xiaotu Ma,Xin Zhou,Donald Yergeau,Mark R. Wilkinson,Bhavin Vadodaria,Xiang Chen,Rose B. McGee,Stacy Hines-Dowell,Regina Nuccio,Emily Quinn,Sheila A. Shurtleff,Michael Rusch,Aman Patel,Jared Becksfort,Shuoguo Wang,Meaghann S. Weaver,Li Ding,Elaine R. Mardis,Richard K. Wilson,Amar Gajjar,David W. Ellison,Alberto S. Pappo,Ching-Hon Pui,Kim E. Nichols,James R. Downing +31 more
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TLDR
Germline mutations in cancer-predisposing genes were identified in 8.5% of the children and adolescents with cancer, and family history did not predict the presence of an underlying predisposition syndrome in most patients.Abstract:
BackgroundThe prevalence and spectrum of predisposing mutations among children and adolescents with cancer are largely unknown. Knowledge of such mutations may improve the understanding of tumorigenesis, direct patient care, and enable genetic counseling of patients and families. MethodsIn 1120 patients younger than 20 years of age, we sequenced the whole genomes (in 595 patients), whole exomes (in 456), or both (in 69). We analyzed the DNA sequences of 565 genes, including 60 that have been associated with autosomal dominant cancer-predisposition syndromes, for the presence of germline mutations. The pathogenicity of the mutations was determined by a panel of medical experts with the use of cancer-specific and locus-specific genetic databases, the medical literature, computational predictions, and second hits identified in the tumor genome. The same approach was used to analyze data from 966 persons who did not have known cancer in the 1000 Genomes Project, and a similar approach was used to analyze data...read more
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Journal ArticleDOI
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer
Colin C. Pritchard,Joaquin Mateo,Michael Walsh,Navonil De Sarkar,Wassim Abida,Himisha Beltran,Andrea Garofalo,Roman Gulati,Suzanne Carreira,Rosalind A. Eeles,Olivier Elemento,Mark A. Rubin,Dan R. Robinson,Robert J. Lonigro,Maha Hussain,Arul M. Chinnaiyan,Arul M. Chinnaiyan,Jake Vinson,Julie Filipenko,Levi A. Garraway,Mary-Ellen Taplin,Saud H. AlDubayan,G. Celine Han,Mallory Beightol,Colm Morrissey,Belinda Nghiem,Heather H. Cheng,Bruce Montgomery,Tom Walsh,Silvia Casadei,Silvia Casadei,Michael F. Berger,Liying Zhang,Ahmet Zehir,Joseph Vijai,Howard I. Scher,Charles L. Sawyers,Nikolaus Schultz,Philip W. Kantoff,David B. Solit,Mark E. Robson,Eliezer M. Van Allen,Kenneth Offit,Johann S. de Bono,Peter S. Nelson,Peter S. Nelson +45 more
TL;DR: The frequency of germline mutations in DNA-repair genes among men with metastatic prostate cancer significantly exceeded the prevalence of 4.6% among 499 men with localized prostate cancer and 2.7% in the Exome Aggregation Consortium, which includes 53,105 persons without a known cancer diagnosis.
Journal ArticleDOI
The landscape of genomic alterations across childhood cancers
Susanne Gröbner,Barbara C. Worst,Joachim Weischenfeldt,Joachim Weischenfeldt,Ivo Buchhalter,Kortine Kleinheinz,Vasilisa A. Rudneva,Pascal Johann,Gnana Prakash Balasubramanian,Maia Segura-Wang,Sebastian Brabetz,Sebastian Bender,Barbara Hutter,Dominik Sturm,Elke Pfaff,Daniel Hübschmann,Gideon Zipprich,Michael Heinold,Michael Heinold,Jürgen Eils,Christian Lawerenz,Serap Erkek,Sander Lambo,Sebastian M. Waszak,Claudia Blattmann,Arndt Borkhardt,Arndt Borkhardt,Michaela Kuhlen,Michaela Kuhlen,Angelika Eggert,Angelika Eggert,Simone Fulda,Manfred Gessler,Jenny Wegert,Roland Kappler,Roland Kappler,Daniel Baumhoer,Stefan Burdach,Stefan Burdach,Renate Kirschner-Schwabe,Renate Kirschner-Schwabe,Udo Kontny,Andreas E. Kulozik,Andreas E. Kulozik,Dietmar R. Lohmann,Simone Hettmer,Cornelia Eckert,Cornelia Eckert,Stefan S. Bielack,Michaela Nathrath,Michaela Nathrath,Charlotte M. Niemeyer,Charlotte M. Niemeyer,Gunther Richter,Gunther Richter,Johannes H. Schulte,Johannes H. Schulte,Reiner Siebert,Frank Westermann,Jan J. Molenaar,Gilles Vassal,Hendrik Witt,Peter Lichter,Ursula Weber,Roland Eils,Roland Eils,Andrey Korshunov,Olaf Witt,Stefan Pfister,Guido Reifenberger,J Felsberg,Christof von Kalle,Manfred Schmidt,Cynthia Bartholomä,Michael Taylor,David T. W. Jones,Natalie Jäger,Korbel Jo,Adrian M. Stütz,Tobias Rausch,Bernhard Radlwimmer,Marie-Laure Yaspo,Hans Lehrach,Hans-Jörg Warnatz,Pablo Landgraf,Benedikt Brors,Marc Zapatka,Marc Zapatka,Susanne Wagner,Susanne Wagner,Andrea Haake,Julia Richter,Gesine Richter,Gesine Richter,Chris Lawerenz,Jules Kerssemakers,Christina Jaeger-Schmidt,Ingrid Scholz,Anke K. Bergmann,Christoph Borst,Birgit Burkhardt,Alexander Claviez,Martin Dreyling,Martin Dreyling,Sonja Eberth,Hermann Einsele,Norbert Frickhofen,Siegfried Haas,Martin-Leo Hansmann,Dennis Karsch,Michael Kneba,Jasmin Lisfeld,Luisa Mantovani-Löffler,Marius Rohde,German Ott,Christina Stadler,Peter Staib,Stephan Stilgenbauer,Lorenz Trümper,Thorsten Zenz,Dieter Kube,Ralf Küppers,Marc A. Weniger,Michael Hummel,Wolfram Klapper,Ulrike Kostezka,Dido Lenze,Peter Möller,Andreas Rosenwald,Monika Szczepanowski,Ole Ammerpohl,Sietse M. Aukema,Vera Binder,Jessica I. Hoell,Ellen Leich,Cristina López,Inga Nagel,Jordan Pischimariov,Philip Rosenstiel,Markus Schilhabel,Stefan Schreiber,Inga Vater,Rabea Wagener,Stephan H. Bernhart,Hans Binder,Gero Doose,Steve Hoffmann,Lydia Hopp,Helene Kretzmer,Markus Kreuz,David Langenberger,Markus Loeffler,Maciej Rosolowski,Matthias Schlesner,Peter F. Stadler,Stephanie Sungalee,Christian P. Kratz,Cornelis M. van Tilburg,Christof M. Kramm,Gudrun Fleischhack,Gudrun Fleischhack,Uta Dirksen,Stefan Rutkowski,Michael C. Frühwald,Katja von Hoff,Stephan Wolf,Thomas Klingebiel,Thomas Klingebiel,Ewa Koscielniak,Jan Koster,Adam C. Resnick,Jinghui Zhang,Yanling Liu,Xin Zhou,Angela J. Waanders,Danny A. Zwijnenburg,Pichai Raman,Ursula D. Weber,Paul A. Northcott,Kristian W. Pajtler,Marcel Kool,Rosario M. Piro,Jan O. Korbel,David T.W. Jones,Lukas Chavez,Stefan M. Pfister +185 more
TL;DR: The data suggest that 7–8% of the children in this cohort carry an unambiguous predisposing germline variant and that nearly 50% of paediatric neoplasms harbour a potentially druggable event, which is highly relevant for the design of future clinical trials.
Journal ArticleDOI
Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency
Eric Bouffet,Valérie Larouche,Brittany Campbell,Daniele Merico,Richard de Borja,Melyssa Aronson,Carol Durno,Joerg Krueger,Vanja Cabric,Vijay Ramaswamy,Nataliya Zhukova,Gary Mason,Roula Farah,Samina Afzal,Michal Yalon,Gideon Rechavi,Vanan Magimairajan,Michael Walsh,Shlomi Constantini,Rina Dvir,Ronit Elhasid,Alyssa Reddy,Michael Osborn,Michael J. Sullivan,Jordan R. Hansford,Andrew Dodgshun,Nancy Klauber-DeMore,Lindsay L. Peterson,Sunil J. Patel,Scott Lindhorst,Jeffrey Atkinson,Zane Cohen,Rachel Laframboise,Peter B. Dirks,Michael D. Taylor,David Malkin,Steffen Albrecht,Roy W. R. Dudley,Nada Jabado,Cynthia Hawkins,Adam Shlien,Uri Tabori +41 more
TL;DR: This report of initial and durable responses of recurrent GBM to immune checkpoint inhibition may have implications for GBM in general and other hypermutant cancers arising from primary (genetic predisposition) or secondary MMRD.
Journal ArticleDOI
The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia
Yu Liu,John Easton,Ying Shao,Jamie L. Maciaszek,Zhaoming Wang,Mark R. Wilkinson,Kelly McCastlain,Michael N. Edmonson,Stanley Pounds,Lei Shi,Xin Zhou,Xiaotu Ma,Edgar Sioson,Yongjin Li,Michael Rusch,Pankaj Gupta,Deqing Pei,Cheng Cheng,Malcolm A. Smith,Jaime M. Guidry Auvil,Daniela S. Gerhard,Mary V. Relling,Naomi J. Winick,Andrew J. Carroll,Nyla A. Heerema,Elizabeth A. Raetz,Meenakshi Devidas,Cheryl L. Willman,Richard C. Harvey,William L. Carroll,Kimberly P. Dunsmore,Stuart S. Winter,Brent L. Wood,Brian P. Sorrentino,James R. Downing,Mignon L. Loh,Stephen P. Hunger,Jinghui Zhang,Charles G. Mullighan +38 more
TL;DR: Using integrated genomic analysis of 264 T-ALL cases, 106 putative driver genes are identified and new mechanisms of coding and noncoding alteration are described, which suggests that different signaling pathways have distinct roles according to maturational stage.
Journal ArticleDOI
Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours
Xiaotu Ma,Yu Liu,Yanling Liu,Ludmil B. Alexandrov,Michael N. Edmonson,Charles Gawad,Xin Zhou,Yongjin Li,Michael Rusch,John Easton,Robert Huether,Veronica Gonzalez-Pena,Mark R. Wilkinson,Leandro C. Hermida,Sean Davis,Edgar Sioson,Stanley Pounds,Xueyuan Cao,Rhonda E. Ries,Zhaoming Wang,Xiang Chen,Li Dong,Sharon J. Diskin,Malcolm A. Smith,Jaime M. Guidry Auvil,Paul S. Meltzer,Ching C. Lau,Elizabeth J. Perlman,John M. Maris,Soheil Meshinchi,Stephen P. Hunger,Daniela S. Gerhard,Jinghui Zhang +32 more
TL;DR: A pan-cancer study of somatic alterations, including single nucleotide variants, small insertions or deletions, structural variations, copy number alterations, gene fusions and internal tandem duplications in 1,699 paediatric leukaemias and solid tumours across six histotypes, provides a comprehensive genomic architecture for paediatric cancers.
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TL;DR: The identification of a gene in which six different germline mutations in breast cancer families that are likely to be due to BRCA2 are detected, and results indicate that this is the BRC a2 gene.
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