Literature DB >> 29296967

Index case of acute myeloid leukemia in a family harboring a novel CEBPA germ line mutation.

Jodi Ram1, Gabrielle Flamm1, Marlene Balys1, Umayal Sivagnanalingam1, Paul G Rothberg1, Anwar Iqbal1, Jason R Myers1, Anthony Corbett1, John M Ashton1, Jason H Mendler1.   

Abstract

The persistence of a CEBPA mutation at the time of complete remission warrants germ line analysis.Not all patients harboring germ line CEBPA mutations have a family history of AML.

Entities:  

Year:  2017        PMID： 29296967      PMCID： PMC5728456          DOI： 10.1182/bloodadvances.2017004424

Source DB:  PubMed          Journal:  Blood Adv        ISSN： 2473-9529


  23 in total

1.  Further evidence that germline CEBPA mutations cause dominant inheritance of acute myeloid leukaemia.

Authors:  G S Sellick; H E Spendlove; D Catovsky; K Pritchard-Jones; R S Houlston
Journal:  Leukemia       Date:  2005-07       Impact factor: 11.528

2.  Genomic Classification and Prognosis in Acute Myeloid Leukemia.

Authors:  Elli Papaemmanuil; Moritz Gerstung; Hartmut Döhner; Peter J Campbell; Lars Bullinger; Verena I Gaidzik; Peter Paschka; Nicola D Roberts; Nicola E Potter; Michael Heuser; Felicitas Thol; Niccolo Bolli; Gunes Gundem; Peter Van Loo; Inigo Martincorena; Peter Ganly; Laura Mudie; Stuart McLaren; Sarah O'Meara; Keiran Raine; David R Jones; Jon W Teague; Adam P Butler; Mel F Greaves; Arnold Ganser; Konstanze Döhner; Richard F Schlenk
Journal:  N Engl J Med       Date:  2016-06-09       Impact factor: 91.245

3.  Allogeneic stem cell transplant to eliminate germline mutations in the gene for CCAAT-enhancer-binding protein α from hematopoietic cells in a family with AML.

Authors:  M Stelljes; A Corbacioglu; R F Schlenk; K Döhner; M C Frühwald; C Rossig; K Ehlert; G Silling; C Müller-Tidow; H Juergens; H Döhner; W E Berdel; J Kienast; S Koschmieder
Journal:  Leukemia       Date:  2011-04-01       Impact factor: 11.528

4.  Prognostic impact, concurrent genetic mutations, and gene expression features of AML with CEBPA mutations in a cohort of 1182 cytogenetically normal AML patients: further evidence for CEBPA double mutant AML as a distinctive disease entity.

Authors:  Erdogan Taskesen; Lars Bullinger; Andrea Corbacioglu; Mathijs A Sanders; Claudia A J Erpelinck; Bas J Wouters; Sonja C van der Poel-van de Luytgaarde; Frederik Damm; Jürgen Krauter; Arnold Ganser; Richard F Schlenk; Bob Löwenberg; Ruud Delwel; Hartmut Döhner; Peter J M Valk; Konstanze Döhner
Journal:  Blood       Date:  2010-12-21       Impact factor: 22.113

5.  Familial acute myeloid leukaemia: four male members of a single family over three consecutive generations exhibiting anticipation.

Authors:  C De Lord; R Powles; J Mehta; K Wilson; J Treleaven; S Meller; D Catovsky
Journal:  Br J Haematol       Date:  1998-03       Impact factor: 6.998

6.  Mutation of CEBPA in familial acute myeloid leukemia.

Authors:  Matthew L Smith; Jamie D Cavenagh; T Andrew Lister; Jude Fitzgibbon
Journal:  N Engl J Med       Date:  2004-12-02       Impact factor: 91.245

7.  Concordant acute myeloblastic leukemia in monozygotic twins with germline and shared somatic mutations in the gene for CCAAT-enhancer-binding protein α with 13 years difference at onset.

Authors:  Maruša Debeljak; Lidija Kitanovski; Tadej Pajič; Janez Jazbec
Journal:  Haematologica       Date:  2013-05-28       Impact factor: 9.941

8.  Recognizing familial myeloid leukemia in adults.

Authors:  Eric M Nickels; Jesse Soodalter; Jane E Churpek; Lucy A Godley
Journal:  Ther Adv Hematol       Date:  2013-08

9.  COSMIC: exploring the world's knowledge of somatic mutations in human cancer.

Authors:  Simon A Forbes; David Beare; Prasad Gunasekaran; Kenric Leung; Nidhi Bindal; Harry Boutselakis; Minjie Ding; Sally Bamford; Charlotte Cole; Sari Ward; Chai Yin Kok; Mingming Jia; Tisham De; Jon W Teague; Michael R Stratton; Ultan McDermott; Peter J Campbell
Journal:  Nucleic Acids Res       Date:  2014-10-29       Impact factor: 16.971

10.  VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Authors:  Zhongwu Lai; Aleksandra Markovets; Miika Ahdesmaki; Brad Chapman; Oliver Hofmann; Robert McEwen; Justin Johnson; Brian Dougherty; J Carl Barrett; Jonathan R Dry
Journal:  Nucleic Acids Res       Date:  2016-04-07       Impact factor: 16.971
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  2 in total

Review 1.  Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).

Authors:  Anna L Brown; Christopher N Hahn; Hamish S Scott
Journal:  Blood       Date:  2020-07-02       Impact factor: 22.113

2.  Two Novel CEBPA Mutations in a Turkish Patient with Acute Myeloid Leukemia.

Authors:  P E Tokgun; M T Alay; S Atli Tekin; N Güler; O Tokgun; A Demiray; N Karagenc; T Durak; B Celik; H Akca
Journal:  Balkan J Med Genet       Date:  2021-03-23       Impact factor: 0.519
  2 in total

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