Literature DB >> 29419426

Heterozygous carriers of germline c.657_661del5 founder mutation in NBN gene are at risk of central nervous system relapse of B-cell precursor acute lymphoblastic leukemia.

Bartłomiej Tomasik1,2,3, Agata Pastorczak1, Wojciech Fendler1,2, Marcin Bartłomiejczyk1, Marcin Braun1,3,4, Marcin Mycko5, Joanna Madzio1,3, Ewa Polakowska1, Edyta Ulińska6, Michał Matysiak6, Katarzyna Derwich7, Monika Lejman8, Jerzy Kowalczyk8, Wanda Badowska9, Bernarda Kazanowska10, Tomasz Szczepański11, Jan Styczyński12, Nina Irga-Jaworska13, Wojciech Młynarski14.   

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Year:  2018        PMID: 29419426      PMCID: PMC5927986          DOI: 10.3324/haematol.2017.181198

Source DB:  PubMed          Journal:  Haematologica        ISSN: 0390-6078            Impact factor:   9.941


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  15 in total

1.  Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations.

Authors:  R Varon; E Seemanova; K Chrzanowska; O Hnateyko; D Piekutowska-Abramczuk; M Krajewska-Walasek; J Sykut-Cegielska; K Sperling; A Reis
Journal:  Eur J Hum Genet       Date:  2000-11       Impact factor: 4.246

2.  Secondary acute monocytic leukemia positive for 11q23 rearrangement in Nijmegen breakage syndrome.

Authors:  Agata Pastorczak; Tomasz Szczepanski; Joanna Trelinska; Julio Finalet Ferreiro; Iwona Wlodarska; Katarzyna Mycko; Anna Polucha; Lukasz Sedek; Claus Meyer; Rolf Marschalek; Wojciech Młynarski
Journal:  Pediatr Blood Cancer       Date:  2014-03-11       Impact factor: 3.167

3.  Nijmegen breakage syndrome (NBS) as a risk factor for CNS involvement in childhood acute lymphoblastic leukemia.

Authors:  Agata Pastorczak; Malgorzata Stolarska; Joanna Trelińska; Joanna Zawitkowska; Jerzy Kowalczyk; Wojciech Mlynarski
Journal:  Pediatr Blood Cancer       Date:  2011-03-08       Impact factor: 3.167

4.  Deficiency of the DNA repair protein nibrin increases the basal but not the radiation induced mutation frequency in vivo.

Authors:  Petra Wessendorf; Jan Vijg; André Nussenzweig; Martin Digweed
Journal:  Mutat Res       Date:  2014-07-11       Impact factor: 2.433

5.  Factors influencing survival after relapse from acute lymphoblastic leukemia: a Children's Oncology Group study.

Authors:  K Nguyen; M Devidas; S-C Cheng; M La; E A Raetz; W L Carroll; N J Winick; S P Hunger; P S Gaynon; M L Loh
Journal:  Leukemia       Date:  2008-09-25       Impact factor: 11.528

6.  Submicroscopic bone marrow involvement in isolated extramedullary relapses in childhood acute lymphoblastic leukemia: a more precise definition of "isolated" and its possible clinical implications, a collaborative study of the Resistant Disease Committee of the International BFM study group.

Authors:  Nikola Hagedorn; Cécile Acquaviva; Eva Fronkova; Arend von Stackelberg; Andrea Barth; Udo zur Stadt; André Schrauder; Jan Trka; Nathalie Gaspar; Karl Seeger; Günter Henze; Hélène Cavé; Cornelia Eckert
Journal:  Blood       Date:  2007-08-24       Impact factor: 22.113

Review 7.  Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome.

Authors:  Agata Pastorczak; Tomasz Szczepanski; Wojciech Mlynarski
Journal:  Eur J Med Genet       Date:  2016-01-27       Impact factor: 2.708

8.  The MLL recombinome of acute leukemias in 2013.

Authors:  C Meyer; J Hofmann; T Burmeister; D Gröger; T S Park; M Emerenciano; M Pombo de Oliveira; A Renneville; P Villarese; E Macintyre; H Cavé; E Clappier; K Mass-Malo; J Zuna; J Trka; E De Braekeleer; M De Braekeleer; S H Oh; G Tsaur; L Fechina; V H J van der Velden; J J M van Dongen; E Delabesse; R Binato; M L M Silva; A Kustanovich; O Aleinikova; M H Harris; T Lund-Aho; V Juvonen; O Heidenreich; J Vormoor; W W L Choi; M Jarosova; A Kolenova; C Bueno; P Menendez; S Wehner; C Eckert; P Talmant; S Tondeur; E Lippert; E Launay; C Henry; P Ballerini; H Lapillone; M B Callanan; J M Cayuela; C Herbaux; G Cazzaniga; P M Kakadiya; S Bohlander; M Ahlmann; J R Choi; P Gameiro; D S Lee; J Krauter; P Cornillet-Lefebvre; G Te Kronnie; B W Schäfer; S Kubetzko; C N Alonso; U zur Stadt; R Sutton; N C Venn; S Izraeli; L Trakhtenbrot; H O Madsen; P Archer; J Hancock; N Cerveira; M R Teixeira; L Lo Nigro; A Möricke; M Stanulla; M Schrappe; L Sedék; T Szczepański; C M Zwaan; E A Coenen; M M van den Heuvel-Eibrink; S Strehl; M Dworzak; R Panzer-Grümayer; T Dingermann; T Klingebiel; R Marschalek
Journal:  Leukemia       Date:  2013-04-30       Impact factor: 11.528

9.  Germline variants in MRE11/RAD50/NBN complex genes in childhood leukemia.

Authors:  Maria Mosor; Iwona Ziółkowska-Suchanek; Karina Nowicka; Agnieszka Dzikiewicz-Krawczyk; Danuta Januszkiewicz-Lewandowska; Jerzy Nowak
Journal:  BMC Cancer       Date:  2013-10-05       Impact factor: 4.430

10.  Identification of the interactors of human nibrin (NBN) and of its 26 kDa and 70 kDa fragments arising from the NBN 657del5 founder mutation.

Authors:  Domenica Cilli; Cristiana Mirasole; Rosa Pennisi; Valeria Pallotta; Angelo D'Alessandro; Antonio Antoccia; Lello Zolla; Paolo Ascenzi; Alessandra di Masi
Journal:  PLoS One       Date:  2014-12-08       Impact factor: 3.240

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  1 in total

1.  Case Report: A Unique Case of Pediatric Central Nervous System Embryonal Tumor Harboring the CIC-LEUTX Fusion, Germline NBN Variant and Somatic TSC2 Mutation: Expanding the Spectrum of CIC-Rearranged Neoplasia.

Authors:  Wanming Hu; Juan Wang; Li Yuan; Xing Zhang; Yuhang Ji; Chao Song; Jing Zeng; Xiaofei Sun
Journal:  Front Oncol       Date:  2020-12-02       Impact factor: 6.244

  1 in total

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