Literature DB >> 19338077

Somatic and germline genetics at the JAK2 locus.

Peter J Campbell1.   

Abstract

Myeloproliferative neoplasms are hematological malignancies frequently associated with somatically acquired mutation of the JAK2 gene. A new study shows that these mutations are preferentially found within a particular inherited JAK2 haplotype, implying the existence of a strong, but uncharacterized, interaction between somatic and germline genetics at this locus.

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Year:  2009        PMID： 19338077     DOI： 10.1038/ng0409-385

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


  14 in total

1.  JAK2(V617F): Prevalence in a large Chinese hospital population.

Authors:  Xuesong Xu; Qi Zhang; Jian Luo; Shu Xing; Qingshan Li; Sanford B Krantz; Xueqi Fu; Zhizhuang Joe Zhao
Journal:  Blood       Date:  2006-08-31       Impact factor: 22.113

2.  The emerging landscape of breast cancer susceptibility.

Authors:  Michael R Stratton; Nazneen Rahman
Journal:  Nat Genet       Date:  2008-01       Impact factor: 38.330

3.  A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms.

Authors:  Damla Olcaydu; Ashot Harutyunyan; Roland Jäger; Tiina Berg; Bettina Gisslinger; Ingrid Pabinger; Heinz Gisslinger; Robert Kralovics
Journal:  Nat Genet       Date:  2009-03-15       Impact factor: 38.330

4.  Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.

Authors:  Jeffrey C Barrett; Sarah Hansoul; Dan L Nicolae; Judy H Cho; Richard H Duerr; John D Rioux; Steven R Brant; Mark S Silverberg; Kent D Taylor; M Michael Barmada; Alain Bitton; Themistocles Dassopoulos; Lisa Wu Datta; Todd Green; Anne M Griffiths; Emily O Kistner; Michael T Murtha; Miguel D Regueiro; Jerome I Rotter; L Philip Schumm; A Hillary Steinhart; Stephan R Targan; Ramnik J Xavier; Cécile Libioulle; Cynthia Sandor; Mark Lathrop; Jacques Belaiche; Olivier Dewit; Ivo Gut; Simon Heath; Debby Laukens; Myriam Mni; Paul Rutgeerts; André Van Gossum; Diana Zelenika; Denis Franchimont; Jean-Pierre Hugot; Martine de Vos; Severine Vermeire; Edouard Louis; Lon R Cardon; Carl A Anderson; Hazel Drummond; Elaine Nimmo; Tariq Ahmad; Natalie J Prescott; Clive M Onnie; Sheila A Fisher; Jonathan Marchini; Jilur Ghori; Suzannah Bumpstead; Rhian Gwilliam; Mark Tremelling; Panos Deloukas; John Mansfield; Derek Jewell; Jack Satsangi; Christopher G Mathew; Miles Parkes; Michel Georges; Mark J Daly
Journal:  Nat Genet       Date:  2008-06-29       Impact factor: 38.330

5.  Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24,577 first-degree relatives of 11,039 patients with myeloproliferative neoplasms in Sweden.

Authors:  Ola Landgren; Lynn R Goldin; Sigurdur Y Kristinsson; Elin A Helgadottir; Jan Samuelsson; Magnus Björkholm
Journal:  Blood       Date:  2008-05-01       Impact factor: 22.113

6.  Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders.

Authors:  Christine Bellanné-Chantelot; Isabelle Chaumarel; Myriam Labopin; Florence Bellanger; Véronique Barbu; Claudia De Toma; François Delhommeau; Nicole Casadevall; William Vainchenker; Gilles Thomas; Albert Najman
Journal:  Blood       Date:  2006-03-14       Impact factor: 22.113

7.  JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms.

Authors:  Amy V Jones; Andrew Chase; Richard T Silver; David Oscier; Katerina Zoi; Y Lynn Wang; Holger Cario; Heike L Pahl; Andrew Collins; Andreas Reiter; Francis Grand; Nicholas C P Cross
Journal:  Nat Genet       Date:  2009-03-15       Impact factor: 38.330

8.  A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.

Authors:  Outi Kilpivaara; Semanti Mukherjee; Alison M Schram; Martha Wadleigh; Ann Mullally; Benjamin L Ebert; Adam Bass; Sachie Marubayashi; Adriana Heguy; Guillermo Garcia-Manero; Hagop Kantarjian; Kenneth Offit; Richard M Stone; D Gary Gilliland; Robert J Klein; Ross L Levine
Journal:  Nat Genet       Date:  2009-03-15       Impact factor: 38.330

9.  Subclonal phylogenetic structures in cancer revealed by ultra-deep sequencing.

Authors:  Peter J Campbell; Erin D Pleasance; Philip J Stephens; Ed Dicks; Richard Rance; Ian Goodhead; George A Follows; Anthony R Green; P Andy Futreal; Michael R Stratton
Journal:  Proc Natl Acad Sci U S A       Date:  2008-08-22       Impact factor: 11.205

10.  JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.

Authors:  Linda M Scott; Wei Tong; Ross L Levine; Mike A Scott; Philip A Beer; Michael R Stratton; P Andrew Futreal; Wendy N Erber; Mary Frances McMullin; Claire N Harrison; Alan J Warren; D Gary Gilliland; Harvey F Lodish; Anthony R Green
Journal:  N Engl J Med       Date:  2007-02-01       Impact factor: 91.245
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  19 in total

1.  Common genetic variation in the germline influences where and how tumors develop.

Authors:  Hannah Carter; Trey Ideker
Journal:  Mol Cell Oncol       Date:  2017-03-10

Review 2.  Molecular aspects of myeloproliferative neoplasms.

Authors:  François Delhommeau; Dorota Jeziorowska; Christophe Marzac; Nicole Casadevall
Journal:  Int J Hematol       Date:  2010-02-27       Impact factor: 2.490

3.  The prognostic impact of germline 46/1 haplotype of Janus kinase 2 in cytogenetically normal acute myeloid leukemia.

Authors:  Sarolta Nahajevszky; Hajnalka Andrikovics; Arpad Batai; Emma Adam; Andras Bors; Judit Csomor; Laszlo Gopcsa; Magdalena Koszarska; Andras Kozma; Nora Lovas; Sandor Lueff; Zoltan Matrai; Nora Meggyesi; Janos Sinko; Andrea Sipos; Andrea Varkonyi; Sandor Fekete; Attila Tordai; Tamas Masszi
Journal:  Haematologica       Date:  2011-07-26       Impact factor: 9.941

4.  Interaction Landscape of Inherited Polymorphisms with Somatic Events in Cancer.

Authors:  Hannah Carter; Rachel Marty; Matan Hofree; Andrew M Gross; James Jensen; Kathleen M Fisch; Xingyu Wu; Christopher DeBoever; Eric L Van Nostrand; Yan Song; Emily Wheeler; Jason F Kreisberg; Scott M Lippman; Gene W Yeo; J Silvio Gutkind; Trey Ideker
Journal:  Cancer Discov       Date:  2017-02-10       Impact factor: 39.397

5.  Myelofibrosis 2012: it's complicated.

Authors:  Harper G Hubbeling; Dale M Frank; Elizabeth O Hexner
Journal:  Ther Adv Hematol       Date:  2012-06

Review 6.  Future cancer research priorities in the USA: a Lancet Oncology Commission.

Authors:  Elizabeth M Jaffee; Chi Van Dang; David B Agus; Brian M Alexander; Kenneth C Anderson; Alan Ashworth; Anna D Barker; Roshan Bastani; Sangeeta Bhatia; Jeffrey A Bluestone; Otis Brawley; Atul J Butte; Daniel G Coit; Nancy E Davidson; Mark Davis; Ronald A DePinho; Robert B Diasio; Giulio Draetta; A Lindsay Frazier; Andrew Futreal; Sam S Gambhir; Patricia A Ganz; Levi Garraway; Stanton Gerson; Sumit Gupta; James Heath; Ruth I Hoffman; Cliff Hudis; Chanita Hughes-Halbert; Ramy Ibrahim; Hossein Jadvar; Brian Kavanagh; Rick Kittles; Quynh-Thu Le; Scott M Lippman; David Mankoff; Elaine R Mardis; Deborah K Mayer; Kelly McMasters; Neal J Meropol; Beverly Mitchell; Peter Naredi; Dean Ornish; Timothy M Pawlik; Jeffrey Peppercorn; Martin G Pomper; Derek Raghavan; Christine Ritchie; Sally W Schwarz; Richard Sullivan; Richard Wahl; Jedd D Wolchok; Sandra L Wong; Alfred Yung
Journal:  Lancet Oncol       Date:  2017-10-31       Impact factor: 41.316

Review 7.  JAK2 mutation and thrombosis in the myeloproliferative neoplasms.

Authors:  Alessandro M Vannucchi
Journal:  Curr Hematol Malig Rep       Date:  2010-01       Impact factor: 3.952

8.  Convergent mechanisms of somatic mutations in polycythemia vera.

Authors:  Kai Wang; Sabina Swierczek; Kimberly Hickman; Hakon Hakonarson; Josef T Prchal
Journal:  Discov Med       Date:  2011-07       Impact factor: 2.970

9.  Inherited susceptibility to pediatric acute lymphoblastic leukemia.

Authors:  Ross L Levine
Journal:  Nat Genet       Date:  2009-09       Impact factor: 38.330

10.  Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood.

Authors:  Francesca Novara; Silvana Beri; Maria Ester Bernardo; Riccardo Bellazzi; Alberto Malovini; Roberto Ciccone; Angela Maria Cometa; Franco Locatelli; Roberto Giorda; Orsetta Zuffardi
Journal:  Hum Genet       Date:  2009-05-30       Impact factor: 4.132
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