Literature DB >> 22922872

A low-frequency variant at 8q24.21 is strongly associated with risk of oligodendroglial tumors and astrocytomas with IDH1 or IDH2 mutation.

Robert B Jenkins1, Yuanyuan Xiao, Hugues Sicotte, Paul A Decker, Thomas M Kollmeyer, Helen M Hansen, Matthew L Kosel, Shichun Zheng, Kyle M Walsh, Terri Rice, Paige Bracci, Lucie S McCoy, Ivan Smirnov, Joseph S Patoka, George Hsuang, Joe L Wiemels, Tarik Tihan, Alexander R Pico, Michael D Prados, Susan M Chang, Mitchel S Berger, Alissa A Caron, Stephanie R Fink, Chandralekha Halder, Amanda L Rynearson, Brooke L Fridley, Jan C Buckner, Brian P O'Neill, Caterina Giannini, Daniel H Lachance, John K Wiencke, Jeanette E Eckel-Passow, Margaret R Wrensch.   

Abstract

Variants at 8q24.21 have been shown to be associated with glioma development. By means of tag SNP genotyping and imputation, pooled next-generation sequencing using long-range PCR and subsequent validation SNP genotyping, we identified seven low-frequency SNPs at 8q24.21 that were strongly associated with glioma risk (P=1×10(-25) to 1×10(-14)). The most strongly associated SNP, rs55705857, remained highly significant after individual adjustment for the other top six SNPs and two previously published SNPs. After stratifying by histological and tumor genetic subtype, the most significant associations of rs55705857 were with oligodendroglial tumors and gliomas with mutant IDH1 or IDH2 (odds ratio (OR)=5.1, P=1.1×10(-31) and OR=4.8, P=6.6×10(-22), respectively). Strong associations were observed for astrocytomas with mutated IDH1 or IDH2 (grades 2-4) (OR=5.16-6.66, P=4.7×10(-12) to 2.2×10(-8)) but not for astrocytomas with wild-type IDH1 and IDH2 (smallest P=0.26). The conserved sequence block that includes rs55705857 is consistently modeled as a microRNA.

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Year:  2012        PMID: 22922872      PMCID: PMC3600846          DOI: 10.1038/ng.2388

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   41.307


  34 in total

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Journal:  RNA       Date:  2005-08       Impact factor: 4.942

2.  Nonsynonymous coding single-nucleotide polymorphisms spanning the genome in relation to glioblastoma survival and age at diagnosis.

Authors:  Margaret Wrensch; Alex McMillan; John Wiencke; Joe Wiemels; Karl Kelsey; Joe Patoka; Hywel Jones; Victoria Carlton; Rei Miike; Jennette Sison; Michelle Moghadassi; Michael Prados
Journal:  Clin Cancer Res       Date:  2007-01-01       Impact factor: 12.531

3.  A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals.

Authors:  Brian L Browning; Sharon R Browning
Journal:  Am J Hum Genet       Date:  2009-02-05       Impact factor: 11.025

4.  A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q.

Authors:  Craig Teerlink; James Farnham; Kristina Allen-Brady; Nicola J Camp; Alun Thomas; Sancy Leachman; Lisa Cannon-Albright
Journal:  Hum Genet       Date:  2011-06-26       Impact factor: 4.132

5.  Genomic aberrations associated with outcome in anaplastic oligodendroglial tumors treated within the EORTC phase III trial 26951.

Authors:  Ahmed Idbaih; Cyril Dalmasso; Mathilde Kouwenhoven; Judith Jeuken; Catherine Carpentier; Thierry Gorlia; Johan M Kros; Pim French; Johannes Teepen; Philippe Broët; Olivier Delattre; Karima Mokhtari; Marc Sanson; Jean-Yves Delattre; Martin van den Bent; Khê Hoang-Xuan
Journal:  J Neurooncol       Date:  2010-09-06       Impact factor: 4.130

6.  Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility.

Authors:  Julius Gudmundsson; Patrick Sulem; Daniel F Gudbjartsson; Thorarinn Blondal; Arnaldur Gylfason; Bjarni A Agnarsson; Kristrun R Benediktsdottir; Droplaug N Magnusdottir; Gudbjorg Orlygsdottir; Margret Jakobsdottir; Simon N Stacey; Asgeir Sigurdsson; Tiina Wahlfors; Teuvo Tammela; Joan P Breyer; Kate M McReynolds; Kevin M Bradley; Berta Saez; Javier Godino; Sebastian Navarrete; Fernando Fuertes; Laura Murillo; Eduardo Polo; Katja K Aben; Inge M van Oort; Brian K Suarez; Brian T Helfand; Donghui Kan; Carlo Zanon; Michael L Frigge; Kristleifur Kristjansson; Jeffrey R Gulcher; Gudmundur V Einarsson; Eirikur Jonsson; William J Catalona; Jose I Mayordomo; Lambertus A Kiemeney; Jeffrey R Smith; Johanna Schleutker; Rosa B Barkardottir; Augustine Kong; Unnur Thorsteinsdottir; Thorunn Rafnar; Kari Stefansson
Journal:  Nat Genet       Date:  2009-09-20       Impact factor: 38.330

7.  Genome-wide association study identifies five susceptibility loci for glioma.

Authors:  Sanjay Shete; Fay J Hosking; Lindsay B Robertson; Sara E Dobbins; Marc Sanson; Beatrice Malmer; Matthias Simon; Yannick Marie; Blandine Boisselier; Jean-Yves Delattre; Khe Hoang-Xuan; Soufiane El Hallani; Ahmed Idbaih; Diana Zelenika; Ulrika Andersson; Roger Henriksson; A Tommy Bergenheim; Maria Feychting; Stefan Lönn; Anders Ahlbom; Johannes Schramm; Michael Linnebank; Kari Hemminki; Rajiv Kumar; Sarah J Hepworth; Amy Price; Georgina Armstrong; Yanhong Liu; Xiangjun Gu; Robert Yu; Ching Lau; Minouk Schoemaker; Kenneth Muir; Anthony Swerdlow; Mark Lathrop; Melissa Bondy; Richard S Houlston
Journal:  Nat Genet       Date:  2009-07-05       Impact factor: 38.330

8.  Bioinformatic Resources of microRNA Sequences, Gene Targets, and Genetic Variation.

Authors:  Wenbo Mu; Wei Zhang
Journal:  Front Genet       Date:  2012-03-05       Impact factor: 4.599

9.  IDH1 or IDH2 mutations predict longer survival and response to temozolomide in low-grade gliomas.

Authors:  C Houillier; X Wang; G Kaloshi; K Mokhtari; R Guillevin; J Laffaire; S Paris; B Boisselier; A Idbaih; F Laigle-Donadey; K Hoang-Xuan; M Sanson; J-Y Delattre
Journal:  Neurology       Date:  2010-10-26       Impact factor: 11.800

10.  19p13.1 is a triple-negative-specific breast cancer susceptibility locus.

Authors:  Kristen N Stevens; Zachary Fredericksen; Celine M Vachon; Xianshu Wang; Sara Margolin; Annika Lindblom; Heli Nevanlinna; Dario Greco; Kristiina Aittomäki; Carl Blomqvist; Jenny Chang-Claude; Alina Vrieling; Dieter Flesch-Janys; Hans-Peter Sinn; Shan Wang-Gohrke; Stefan Nickels; Hiltrud Brauch; Yon-Dschun Ko; Hans-Peter Fischer; Rita K Schmutzler; Alfons Meindl; Claus R Bartram; Sarah Schott; Christoph Engel; Andrew K Godwin; Joellen Weaver; Harsh B Pathak; Priyanka Sharma; Hermann Brenner; Heiko Müller; Volker Arndt; Christa Stegmaier; Penelope Miron; Drakoulis Yannoukakos; Alexandra Stavropoulou; George Fountzilas; Helen J Gogas; Ruth Swann; Miriam Dwek; Annie Perkins; Roger L Milne; Javier Benítez; María Pilar Zamora; José Ignacio Arias Pérez; Stig E Bojesen; Sune F Nielsen; Børge G Nordestgaard; Henrik Flyger; Pascal Guénel; Thérèse Truong; Florence Menegaux; Emilie Cordina-Duverger; Barbara Burwinkel; Frederick Marmé; Andreas Schneeweiss; Christof Sohn; Elinor Sawyer; Ian Tomlinson; Michael J Kerin; Julian Peto; Nichola Johnson; Olivia Fletcher; Isabel Dos Santos Silva; Peter A Fasching; Matthias W Beckmann; Arndt Hartmann; Arif B Ekici; Artitaya Lophatananon; Kenneth Muir; Puttisak Puttawibul; Surapon Wiangnon; Marjanka K Schmidt; Annegien Broeks; Linde M Braaf; Efraim H Rosenberg; John L Hopper; Carmel Apicella; Daniel J Park; Melissa C Southey; Anthony J Swerdlow; Alan Ashworth; Nicholas Orr; Minouk J Schoemaker; Hoda Anton-Culver; Argyrios Ziogas; Leslie Bernstein; Christina Clarke Dur; Chen-Yang Shen; Jyh-Cherng Yu; Huan-Ming Hsu; Chia-Ni Hsiung; Ute Hamann; Thomas Dünnebier; Thomas Rüdiger; Hans Ulrich Ulmer; Paul P Pharoah; Alison M Dunning; Manjeet K Humphreys; Qin Wang; Angela Cox; Simon S Cross; Malcom W Reed; Per Hall; Kamila Czene; Christine B Ambrosone; Foluso Ademuyiwa; Helena Hwang; Diana M Eccles; Montserrat Garcia-Closas; Jonine D Figueroa; Mark E Sherman; Jolanta Lissowska; Peter Devilee; Caroline Seynaeve; Rob A E M Tollenaar; Maartje J Hooning; Irene L Andrulis; Julia A Knight; Gord Glendon; Anna Marie Mulligan; Robert Winqvist; Katri Pylkäs; Arja Jukkola-Vuorinen; Mervi Grip; Esther M John; Alexander Miron; Grethe Grenaker Alnæs; Vessela Kristensen; Anne-Lise Børresen-Dale; Graham G Giles; Laura Baglietto; Catriona A McLean; Gianluca Severi; Matthew L Kosel; V S Pankratz; Susan Slager; Janet E Olson; Paolo Radice; Paolo Peterlongo; Siranoush Manoukian; Monica Barile; Diether Lambrechts; Sigrid Hatse; Anne-Sophie Dieudonne; Marie-Rose Christiaens; Georgia Chenevix-Trench; Jonathan Beesley; Xiaoqing Chen; Arto Mannermaa; Veli-Matti Kosma; Jaana M Hartikainen; Ylermi Soini; Douglas F Easton; Fergus J Couch
Journal:  Cancer Res       Date:  2012-02-13       Impact factor: 12.701

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  73 in total

Review 1.  Genetic and molecular epidemiology of adult diffuse glioma.

Authors:  Annette M Molinaro; Jennie W Taylor; John K Wiencke; Margaret R Wrensch
Journal:  Nat Rev Neurol       Date:  2019-06-21       Impact factor: 42.937

2.  Novel childhood ALL susceptibility locus BMI1-PIP4K2A is specifically associated with the hyperdiploid subtype.

Authors:  Kyle M Walsh; Adam J de Smith; Anand P Chokkalingam; Catherine Metayer; Gary V Dahl; Ling-i Hsu; Lisa F Barcellos; Joseph L Wiemels; Patricia A Buffler
Journal:  Blood       Date:  2013-06-06       Impact factor: 22.113

3.  Deciphering the 8q24.21 association for glioma.

Authors:  Victor Enciso-Mora; Fay J Hosking; Ben Kinnersley; Yufei Wang; Sanjay Shete; Diana Zelenika; Peter Broderick; Ahmed Idbaih; Jean-Yves Delattre; Khe Hoang-Xuan; Yannick Marie; Anna Luisa Di Stefano; Marianne Labussière; Sara Dobbins; Blandine Boisselier; Pietro Ciccarino; Marta Rossetto; Georgina Armstrong; Yanhong Liu; Konstantinos Gousias; Johannes Schramm; Ching Lau; Sarah J Hepworth; Konstantin Strauch; Martina Müller-Nurasyid; Stefan Schreiber; Andre Franke; Susanne Moebus; Lewin Eisele; Asta Forsti; Kari Hemminki; Ian P Tomlinson; Anthony Swerdlow; Mark Lathrop; Matthias Simon; Melissa Bondy; Marc Sanson; Richard S Houlston
Journal:  Hum Mol Genet       Date:  2013-02-11       Impact factor: 6.150

Review 4.  The epidemiology of glioma in adults: a "state of the science" review.

Authors:  Quinn T Ostrom; Luc Bauchet; Faith G Davis; Isabelle Deltour; James L Fisher; Chelsea Eastman Langer; Melike Pekmezci; Judith A Schwartzbaum; Michelle C Turner; Kyle M Walsh; Margaret R Wrensch; Jill S Barnholtz-Sloan
Journal:  Neuro Oncol       Date:  2014-07       Impact factor: 12.300

5.  Rare and uncommon genetic variants may hold key to the 'missing heritability' in glioma.

Authors:  Kathleen M Egan; Margaret R Wrensch; Robert B Jenkins
Journal:  CNS Oncol       Date:  2012-11

6.  Editorial commentary on "Analysis of IDH mutation, 1p19q deletion, and PTEN loss delineates prognosis in clinical low-grade gliomas".

Authors:  Robert B Jenkins
Journal:  Neuro Oncol       Date:  2014-07       Impact factor: 12.300

7.  Concomitant 1p/19q co-deletion and IDH1/2, ATRX, and TP53 mutations within a single clone of "dual-genotype" IDH-mutant infiltrating gliomas.

Authors:  Cinthya J Zepeda-Mendoza; Rachael A Vaubel; Shabnam Zarei; Cristiane M Ida; Martin Matthews; Sara Acree; Aditya Raghunathan; Caterina Giannini; Robert B Jenkins
Journal:  Acta Neuropathol       Date:  2020-03-13       Impact factor: 17.088

Review 8.  The FDA NIH Biomarkers, EndpointS, and other Tools (BEST) resource in neuro-oncology.

Authors:  Daniel N Cagney; Joohee Sul; Raymond Y Huang; Keith L Ligon; Patrick Y Wen; Brian M Alexander
Journal:  Neuro Oncol       Date:  2018-08-02       Impact factor: 12.300

9.  Non-additive and epistatic effects of HLA polymorphisms contributing to risk of adult glioma.

Authors:  Chenan Zhang; Adam J de Smith; Ivan V Smirnov; John K Wiencke; Joseph L Wiemels; John S Witte; Kyle M Walsh
Journal:  J Neurooncol       Date:  2017-07-18       Impact factor: 4.130

10.  Neuro-oncology: Five new things.

Authors:  David Schiff; Benjamin Purow
Journal:  Neurol Clin Pract       Date:  2013-08
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