Literature DB >> 29959414

Discriminating a common somatic ASXL1 mutation (c.1934dup; p.G646Wfs*12) from artifact in myeloid malignancies using NGS.

Michael O Alberti1, Sridhar Nonavinkere Srivatsan2, Jin Shao2, Samantha N McNulty1, Gue Su Chang2,3, Christopher A Miller2,3, Jennifer B Dunlap4, Fei Yang4,5, Richard D Press4,5, Qingsong Gao2,3, Li Ding2,3,6,7, Jonathan W Heusel1, Eric J Duncavage1, Matthew J Walter8,9.   

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Year:  2018        PMID： 29959414      PMCID： PMC6402595          DOI： 10.1038/s41375-018-0193-y

Source DB:  PubMed          Journal:  Leukemia        ISSN： 0887-6924            Impact factor:   11.528


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  15 in total

1.  Targeted Next-Generation Sequencing in Molecular Subtyping of Lower-Grade Diffuse Gliomas: Application of the World Health Organization's 2016 Revised Criteria for Central Nervous System Tumors.

Authors:  Jamal H Carter; Samantha N McNulty; Patrick J Cimino; Catherine E Cottrell; Jonathan W Heusel; Katinka A Vigh-Conrad; Eric J Duncavage
Journal:  J Mol Diagn       Date:  2016-12-30       Impact factor: 5.568

2.  The most commonly reported variant in ASXL1 (c.1934dupG;p.Gly646TrpfsX12) is not a somatic alteration.

Authors:  O Abdel-Wahab; O Kilpivaara; J Patel; L Busque; R L Levine
Journal:  Leukemia       Date:  2010-07-01       Impact factor: 11.528

3.  Prognostic significance of ASXL1 mutations in patients with myelodysplastic syndromes.

Authors:  Felicitas Thol; Inna Friesen; Frederik Damm; Haiyang Yun; Eva M Weissinger; Jürgen Krauter; Katharina Wagner; Anuhar Chaturvedi; Amit Sharma; Martin Wichmann; Gudrun Göhring; Christiane Schumann; Gesine Bug; Oliver Ottmann; Wolf-Karsten Hofmann; Brigitte Schlegelberger; Michael Heuser; Arnold Ganser
Journal:  J Clin Oncol       Date:  2011-05-16       Impact factor: 44.544

Review 4.  Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel.

Authors:  Hartmut Döhner; Elihu Estey; David Grimwade; Sergio Amadori; Frederick R Appelbaum; Thomas Büchner; Hervé Dombret; Benjamin L Ebert; Pierre Fenaux; Richard A Larson; Ross L Levine; Francesco Lo-Coco; Tomoki Naoe; Dietger Niederwieser; Gert J Ossenkoppele; Miguel Sanz; Jorge Sierra; Martin S Tallman; Hwei-Fang Tien; Andrew H Wei; Bob Löwenberg; Clara D Bloomfield
Journal:  Blood       Date:  2016-11-28       Impact factor: 22.113

5.  ASXL1 mutations identify a high-risk subgroup of older patients with primary cytogenetically normal AML within the ELN Favorable genetic category.

Authors:  Klaus H Metzeler; Heiko Becker; Kati Maharry; Michael D Radmacher; Jessica Kohlschmidt; Krzysztof Mrózek; Deedra Nicolet; Susan P Whitman; Yue-Zhong Wu; Sebastian Schwind; Bayard L Powell; Thomas H Carter; Meir Wetzler; Joseph O Moore; Jonathan E Kolitz; Maria R Baer; Andrew J Carroll; Richard A Larson; Michael A Caligiuri; Guido Marcucci; Clara D Bloomfield
Journal:  Blood       Date:  2011-10-26       Impact factor: 22.113

6.  Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia.

Authors:  Véronique Gelsi-Boyer; Virginie Trouplin; José Adélaïde; Julien Bonansea; Nathalie Cervera; Nadine Carbuccia; Arnaud Lagarde; Thomas Prebet; Meyer Nezri; Danielle Sainty; Sylviane Olschwang; Luc Xerri; Max Chaffanet; Marie-Joëlle Mozziconacci; Norbert Vey; Daniel Birnbaum
Journal:  Br J Haematol       Date:  2009-04-15       Impact factor: 6.998

Review 7.  Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.

Authors:  Véronique Gelsi-Boyer; Mandy Brecqueville; Raynier Devillier; Anne Murati; Marie-Joelle Mozziconacci; Daniel Birnbaum
Journal:  J Hematol Oncol       Date:  2012-03-21       Impact factor: 17.388

8.  Improving alignment accuracy on homopolymer regions for semiconductor-based sequencing technologies.

Authors:  Weixing Feng; Sen Zhao; Dingkai Xue; Fengfei Song; Ziwei Li; Duojiao Chen; Bo He; Yangyang Hao; Yadong Wang; Yunlong Liu
Journal:  BMC Genomics       Date:  2016-08-22       Impact factor: 3.969

9.  Landscape of genetic lesions in 944 patients with myelodysplastic syndromes.

Authors:  T Haferlach; Y Nagata; V Grossmann; Y Okuno; U Bacher; G Nagae; S Schnittger; M Sanada; A Kon; T Alpermann; K Yoshida; A Roller; N Nadarajah; Y Shiraishi; Y Shiozawa; K Chiba; H Tanaka; H P Koeffler; H-U Klein; M Dugas; H Aburatani; A Kohlmann; S Miyano; C Haferlach; W Kern; S Ogawa
Journal:  Leukemia       Date:  2013-11-13       Impact factor: 11.528

10.  ASXL1 c.1934dup;p.Gly646Trpfs*12-a true somatic alteration requiring a new approach.

Authors:  Costas K Yannakou; Kate Jones; Michelle McBean; Ella R Thompson; Georgina L Ryland; Ken Doig; John Markham; David Westerman; Piers Blombery
Journal:  Blood Cancer J       Date:  2017-12-15       Impact factor: 11.037
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  4 in total

Review 1.  Genetics of progression from MDS to secondary leukemia.

Authors:  Andrew J Menssen; Matthew J Walter
Journal:  Blood       Date:  2020-07-02       Impact factor: 22.113

2.  Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel.

Authors:  Jaymi Tan; Yock Ping Chow; Norziha Zainul Abidin; Kian Meng Chang; Veena Selvaratnam; Nor Rafeah Tumian; Yang Ming Poh; Abhi Veerakumarasivam; Michael Arthur Laffan; Chieh Lee Wong
Journal:  BMC Med Genomics       Date:  2022-01-15       Impact factor: 3.063

3.  Ultra-sensitive monitoring of leukemia patients using superRCA mutation detection assays.

Authors:  Lei Chen; Anna Eriksson; Simone Weström; Tatjana Pandzic; Sören Lehmann; Lucia Cavelier; Ulf Landegren
Journal:  Nat Commun       Date:  2022-07-12       Impact factor: 17.694

Review 4.  ASXL1/2 mutations and myeloid malignancies.

Authors:  Edward A Medina; Caroline R Delma; Feng-Chun Yang
Journal:  J Hematol Oncol       Date:  2022-09-06       Impact factor: 23.168
  4 in total

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