Clinical molecular testing for ASXL1 c.1934dupG p.Gly646fs mutation in hematologic neoplasms in the NGS era

Truncation mutants of ASXL1 observed in myeloid malignancies are expressed at detectable protein levels

(2016) Daichi Inoue et al.   EXPERIMENTAL HEMATOLOGY

Age-related mutations associated with clonal hematopoietic expansion and malignancies

(2014) Mingchao Xie et al.   NATURE MEDICINE

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

(2014) Giulio Genovese et al.   NEW ENGLAND JOURNAL OF MEDICINE

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

(2014) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2014) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation

(2013) R. R. West et al.   HAEMATOLOGICA

Myelodysplastic syndromes are induced by histone methylation–altering ASXL1 mutations

(2013) Daichi Inoue et al.   JOURNAL OF CLINICAL INVESTIGATION

Monitoring of residual disease by next-generation deep-sequencing of RUNX1 mutations can identify acute myeloid leukemia patients with resistant disease

(2013) A Kohlmann et al.   LEUKEMIA

Acute myeloid leukemia with myelodysplasia-related changes are characterized by a specific molecular pattern with high frequency of ASXL1 mutations

(2012) Raynier Devillier et al.   AMERICAN JOURNAL OF HEMATOLOGY

ASXL1 Mutations Promote Myeloid Transformation through Loss of PRC2-Mediated Gene Repression

(2012) Omar Abdel-Wahab et al.   CANCER CELL

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

(2012) Véronique Gelsi-Boyer et al.   Journal of Hematology & Oncology

ASXL1 exon 12 mutations are frequent in AML with intermediate risk karyotype and are independently associated with an adverse outcome

(2012) S Schnittger et al.   LEUKEMIA

Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing

(2012) Li Ding et al.   NATURE

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

(2011) K. H. Metzeler et al.   BLOOD

Acquired mutations in ASXL1 in acute myeloid leukemia: prevalence and prognostic value

(2011) M. Pratcorona et al.   HAEMATOLOGICA

Prognostic Significance of ASXL1 Mutations in Patients With Myelodysplastic Syndromes

(2011) Felicitas Thol et al.   JOURNAL OF CLINICAL ONCOLOGY

Clinical Effect of Point Mutations in Myelodysplastic Syndromes

(2011) Rafael Bejar et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nonsense Mediated Decay Resistant Mutations Are a Source of Expressed Mutant Proteins in Colon Cancer Cell Lines with Microsatellite Instability

(2011) David S. Williams et al.   PLoS One

Improving sequencing quality from PCR products containing long mononucleotide repeats

(2010) Aron Fazekas et al.   BIOTECHNIQUES

Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations

(2010) W.-C. Chou et al.   BLOOD

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

(2010) O Abdel-Wahab et al.   LEUKEMIA

Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia

(2010) J Boultwood et al.   LEUKEMIA

Mutations of polycomb-associated geneASXL1in myelodysplastic syndromes and chronic myelomonocytic leukaemia

(2009) Véronique Gelsi-Boyer et al.   BRITISH JOURNAL OF HAEMATOLOGY

Mutual exclusion of ASXL1 and NPM1 mutations in a series of acute myeloid leukemias

(2009) N Carbuccia et al.   LEUKEMIA