Literature DB >> 33351114

Accurate germline RUNX1 variant interpretation and its clinical significance.

Simone Feurstein1, Liying Zhang2, Courtney D DiNardo3.   

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Year:  2020        PMID： 33351114      PMCID： PMC7757007          DOI： 10.1182/bloodadvances.2020003304

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


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  29 in total

1.  High incidence of biallelic point mutations in the Runt domain of the AML1/PEBP2 alpha B gene in Mo acute myeloid leukemia and in myeloid malignancies with acquired trisomy 21.

Authors:  C Preudhomme; D Warot-Loze; C Roumier; N Grardel-Duflos; R Garand; J L Lai; N Dastugue; E Macintyre; C Denis; F Bauters; J P Kerckaert; A Cosson; P Fenaux
Journal:  Blood       Date:  2000-10-15       Impact factor: 22.113

2.  Transcription factor mutations in myelodysplastic/myeloproliferative neoplasms.

Authors:  Thomas Ernst; Andrew Chase; Katerina Zoi; Katherine Waghorn; Claire Hidalgo-Curtis; Joannah Score; Amy Jones; Francis Grand; Andreas Reiter; Andreas Hochhaus; Nicholas C P Cross
Journal:  Haematologica       Date:  2010-04-26       Impact factor: 9.941

3.  Incidental detection of germline variants of potential clinical significance by massively parallel sequencing in haematological malignancies.

Authors:  Costas K Yannakou; Kate Jones; Georgina L Ryland; Ella R Thompson; Gareth Reid; Michelle McBean; Alison Trainer; David Westerman; Piers Blombery
Journal:  J Clin Pathol       Date:  2017-08-11       Impact factor: 3.411

4.  Mutations of the AML1 gene in myelodysplastic syndrome and their functional implications in leukemogenesis.

Authors:  Y Imai; M Kurokawa; K Izutsu; A Hangaishi; K Takeuchi; K Maki; S Ogawa; S Chiba; K Mitani; H Hirai
Journal:  Blood       Date:  2000-11-01       Impact factor: 22.113

Review 5.  RUNX1 meets MLL: epigenetic regulation of hematopoiesis by two leukemia genes.

Authors:  C P Koh; C Q Wang; C E L Ng; Y Ito; M Araki; V Tergaonkar; G Huang; M Osato
Journal:  Leukemia       Date:  2013-07-02       Impact factor: 11.528

6.  High frequency of germline RUNX1 mutations in patients with RUNX1-mutated AML.

Authors:  Laura Simon; Jean-François Spinella; Chi-Yuan Yao; Vincent-Philippe Lavallée; Isabel Boivin; Geneviève Boucher; Eric Audemard; Marie-Eve Bordeleau; Sébastien Lemieux; Josée Hébert; Guy Sauvageau
Journal:  Blood       Date:  2020-05-21       Impact factor: 22.113

7.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

Review 8.  How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies.

Authors:  David Wu; Xi Luo; Simone Feurstein; Chimene Kesserwan; Shruthi Mohan; Daniel E Pineda-Alvarez; Lucy A Godley
Journal:  Haematologica       Date:  2020-03-12       Impact factor: 9.941

9.  Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

Authors:  Sharon E Plon; Diana M Eccles; Douglas Easton; William D Foulkes; Maurizio Genuardi; Marc S Greenblatt; Frans B L Hogervorst; Nicoline Hoogerbrugge; Amanda B Spurdle; Sean V Tavtigian
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878

10.  Novel function of the unique N-terminal region of RUNX1c in B cell growth regulation.

Authors:  Gareth Brady; Claudio Elgueta Karstegl; Paul J Farrell
Journal:  Nucleic Acids Res       Date:  2012-12-18       Impact factor: 16.971
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  4 in total

Review 1.  Myeloid neoplasms and clonal hematopoiesis from the RUNX1 perspective.

Authors:  Yoshihiro Hayashi; Yuka Harada; Hironori Harada
Journal:  Leukemia       Date:  2022-03-30       Impact factor: 11.528

2.  The clinical and functional effects of TERT variants in myelodysplastic syndrome.

Authors:  Christopher R Reilly; Mikko Myllymäki; Robert Redd; Shilpa Padmanaban; Druha Karunakaran; Valerie Tesmer; Frederick D Tsai; Christopher J Gibson; Huma Q Rana; Liang Zhong; Wael Saber; Stephen R Spellman; Zhen-Huan Hu; Esther H Orr; Maxine M Chen; Immaculata De Vivo; Daniel J DeAngelo; Corey Cutler; Joseph H Antin; Donna Neuberg; Judy E Garber; Jayakrishnan Nandakumar; Suneet Agarwal; R Coleman Lindsley
Journal:  Blood       Date:  2021-09-09       Impact factor: 25.476

Review 3.  Beyond Pathogenic RUNX1 Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic Malignancies.

Authors:  Alisa Förster; Melanie Decker; Brigitte Schlegelberger; Tim Ripperger
Journal:  Cancers (Basel)       Date:  2022-07-14       Impact factor: 6.575

4.  The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.

Authors:  Claire C Homan; Sarah L King-Smith; David M Lawrence; Peer Arts; Jinghua Feng; James Andrews; Mark Armstrong; Thuong Ha; Julia Dobbins; Michael W Drazer; Kai Yu; Csaba Bödör; Alan Cantor; Mario Cazzola; Erin Degelman; Courtney D DiNardo; Nicolas Duployez; Remi Favier; Stefan Fröhling; Jude Fitzgibbon; Jeffery M Klco; Alwin Krämer; Mineo Kurokawa; Joanne Lee; Luca Malcovati; Neil V Morgan; Georges Natsoulis; Carolyn Owen; Keyur P Patel; Claude Preudhomme; Hana Raslova; Hugh Rienhoff; Tim Ripperger; Rachael Schulte; Kiran Tawana; Elvira Velloso; Benedict Yan; Paul Liu; Lucy A Godley; Andreas W Schreiber; Christopher N Hahn; Hamish S Scott; Anna L Brown
Journal:  Haematologica       Date:  2021-11-01       Impact factor: 9.941
  4 in total

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