Literature DB >> 23064415

A common single-nucleotide variant in T is strongly associated with chordoma.

Nischalan Pillay1, Vincent Plagnol, Patrick S Tarpey, Samira B Lobo, Nadège Presneau, Karoly Szuhai, Dina Halai, Fitim Berisha, Stephen R Cannon, Simon Mead, Dalia Kasperaviciute, Jutta Palmen, Philippa J Talmud, Lars-Gunnar Kindblom, M Fernanda Amary, Roberto Tirabosco, Adrienne M Flanagan.   

Abstract

Chordoma is a rare malignant bone tumor that expresses the transcription factor T. We conducted an association study of 40 individuals with chordoma and 358 ancestry-matched controls, with replication in an independent cohort. Whole-exome and Sanger sequencing of T exons showed strong association of the common nonsynonymous SNP rs2305089 with chordoma risk (allelic odds ratio (OR) = 6.1, 95% confidence interval (CI) = 3.1-12.1; P = 4.4 × 10(-9)), a finding that is exceptional in cancers with a non-Mendelian mode of inheritance.

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Year:  2012        PMID： 23064415     DOI： 10.1038/ng.2419

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  14 in total

1.  Chordoma: incidence and survival patterns in the United States, 1973-1995.

Authors:  M L McMaster; A M Goldstein; C M Bromley; N Ishibe; D M Parry
Journal:  Cancer Causes Control       Date:  2001-01       Impact factor: 2.506

2.  The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations.

Authors:  J M Satagopan; K Offit; W Foulkes; M E Robson; S Wacholder; C M Eng; S E Karp; C B Begg
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2001-05       Impact factor: 4.254

Review 3.  Structure and function of the notochord: an essential organ for chordate development.

Authors:  Derek L Stemple
Journal:  Development       Date:  2005-06       Impact factor: 6.868

4.  Role of the transcription factor T (brachyury) in the pathogenesis of sporadic chordoma: a genetic and functional-based study.

Authors:  Nadège Presneau; Asem Shalaby; Hongtao Ye; Nischalan Pillay; Dina Halai; Bernadine Idowu; Roberto Tirabosco; Duncan Whitwell; Thomas S Jacques; Lars-Gunnar Kindblom; Silke Brüderlein; Peter Möller; Andreas Leithner; Bernadette Liegl; Fernanda M Amary; Nicholas N Athanasou; Pancras Cw Hogendoorn; Fredrik Mertens; Karoly Szuhai; Adrienne M Flanagan
Journal:  J Pathol       Date:  2010-11-24       Impact factor: 7.996

5.  APOE and Alzheimer disease: a major gene with semi-dominant inheritance.

Authors:  E Genin; D Hannequin; D Wallon; K Sleegers; M Hiltunen; O Combarros; M J Bullido; S Engelborghs; P De Deyn; C Berr; F Pasquier; B Dubois; G Tognoni; N Fiévet; N Brouwers; K Bettens; B Arosio; E Coto; M Del Zompo; I Mateo; J Epelbaum; A Frank-Garcia; S Helisalmi; E Porcellini; A Pilotto; P Forti; R Ferri; E Scarpini; G Siciliano; V Solfrizzi; S Sorbi; G Spalletta; F Valdivieso; S Vepsäläinen; V Alvarez; P Bosco; M Mancuso; F Panza; B Nacmias; P Bossù; O Hanon; P Piccardi; G Annoni; D Seripa; D Galimberti; F Licastro; H Soininen; J-F Dartigues; M I Kamboh; C Van Broeckhoven; J C Lambert; P Amouyel; D Campion
Journal:  Mol Psychiatry       Date:  2011-05-10       Impact factor: 15.992

6.  Brachyury, a crucial regulator of notochordal development, is a novel biomarker for chordomas.

Authors:  S Vujovic; S Henderson; N Presneau; E Odell; T S Jacques; R Tirabosco; C Boshoff; A M Flanagan
Journal:  J Pathol       Date:  2006-06       Impact factor: 7.996

7.  Brachyury expression in extra-axial skeletal and soft tissue chordomas: a marker that distinguishes chordoma from mixed tumor/myoepithelioma/parachordoma in soft tissue.

Authors:  Roberto Tirabosco; D Chas Mangham; Andrew E Rosenberg; Sonja Vujovic; Konstantinos Bousdras; Stefano Pizzolitto; Giovanna De Maglio; Michael A den Bakker; Lisa Di Francesco; Ricardo K Kalil; Nicholas A Athanasou; Paul O'Donnell; Edward F McCarthy; Adrienne M Flanagan
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8.  Genome-wide association studies in cancer.

Authors:  Douglas F Easton; Rosalind A Eeles
Journal:  Hum Mol Genet       Date:  2008-10-15       Impact factor: 6.150

9.  A user's guide to the encyclopedia of DNA elements (ENCODE).

Authors: 
Journal:  PLoS Biol       Date:  2011-04-19       Impact factor: 8.029

10.  Massive genomic rearrangement acquired in a single catastrophic event during cancer development.

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Journal:  Cell       Date:  2011-01-07       Impact factor: 41.582
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  44 in total

1.  [Novel molecular aspects of chordomas].

Authors:  S Scheil-Bertram
Journal:  Pathologe       Date:  2014-11       Impact factor: 1.011

Review 2.  The notochord: structure and functions.

Authors:  Diana Corallo; Valeria Trapani; Paolo Bonaldo
Journal:  Cell Mol Life Sci       Date:  2015-04-02       Impact factor: 9.261

3.  Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma.

Authors:  Michael J Kelley; Jianxin Shi; Bari Ballew; Paula L Hyland; Wen-Qing Li; Melissa Rotunno; David A Alcorta; Norbert J Liebsch; Jason Mitchell; Sara Bass; David Roberson; Joseph Boland; Michael Cullen; Ji He; Laurie Burdette; Meredith Yeager; Stephen J Chanock; Dilys M Parry; Alisa M Goldstein; Xiaohong R Yang
Journal:  Hum Genet       Date:  2014-07-04       Impact factor: 4.132

4.  PD-1, PD-L1, PD-L2 expression in the chordoma microenvironment.

Authors:  Dimitrios Mathios; Jacob Ruzevick; Christopher M Jackson; Haiying Xu; Sagar R Shah; Janis M Taube; Peter C Burger; Edward F McCarthy; Alfredo Quinones-Hinojosa; Drew M Pardoll; Michael Lim
Journal:  J Neurooncol       Date:  2014-10-28       Impact factor: 4.130

5.  T-box transcription factor Brachyury in lung cancer cells inhibits macrophage infiltration by suppressing CCL2 and CCL4 chemokines.

Authors:  Su Chen; Jian Jiao; Dongjie Jiang; Zongmiao Wan; Lei Li; Ke Li; Leqin Xu; Zhenhua Zhou; Wei Xu; Jianru Xiao
Journal:  Tumour Biol       Date:  2015-03-06

Review 6.  Chordoma of the Head and Neck: A Review.

Authors:  Jason K Wasserman; Denis Gravel; Bibianna Purgina
Journal:  Head Neck Pathol       Date:  2017-10-04

7.  Spinal column chordoma: prognostic significance of clinical variables and T (brachyury) gene SNP rs2305089 for local recurrence and overall survival.

Authors:  Chetan Bettegowda; Stephen Yip; Sheng-Fu Larry Lo; Charles G Fisher; Stefano Boriani; Laurence D Rhines; Joanna Y Wang; Aron Lazary; Marco Gambarotti; Wei-Lien Wang; Alessandro Luzzati; Mark B Dekutoski; Mark H Bilsky; Dean Chou; Michael G Fehlings; Edward F McCarthy; Nasir A Quraishi; Jeremy J Reynolds; Daniel M Sciubba; Richard P Williams; Jean-Paul Wolinsky; Patricia L Zadnik; Ming Zhang; Niccole M Germscheid; Vasiliki Kalampoki; Peter Pal Varga; Ziya L Gokaslan
Journal:  Neuro Oncol       Date:  2017-03-01       Impact factor: 12.300

Review 8.  A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.

Authors:  Alisa M Goldstein; Elizabeth M Gillanders; Melissa Rotunno; Rolando Barajas; Mindy Clyne; Elise Hoover; Naoko I Simonds; Tram Kim Lam; Leah E Mechanic
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2020-05-28       Impact factor: 4.254

9.  Development of transplantable human chordoma xenograft for preclinical assessment of novel therapeutic strategies.

Authors:  Fabio Bozzi; Giacomo Manenti; Elena Conca; Silvia Stacchiotti; Antonella Messina; GianPaolo Dagrada; Alessandro Gronchi; Pietro Panizza; Marco A Pierotti; Elena Tamborini; Silvana Pilotti
Journal:  Neuro Oncol       Date:  2014-01       Impact factor: 12.300

10.  Synchronous metastatic skull base chordoma to the breast: case report and literature review.

Authors:  S I Shakir; M Pelmus; A Florea; J F Boileau; M C Guiot; S Di Maio; T M Muanza
Journal:  Curr Oncol       Date:  2016-04-13       Impact factor: 3.677
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