Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia. - Wikidata - awgldk - TriplyDB

Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.

Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.

http://www.wikidata.org/entity/Q36322771

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Hereditary Predispositions to Myelodysplastic Syndrome Acquired TET2 mutation in one patient with familial platelet disorder with predisposition to AML led to the development of pre-leukaemic clone resulting in T2-ALL and AML-M0 GATA factor mutations in hematologic disease.Bone marrow pathologic abnormalities in familial platelet disorder with propensity for myeloid malignancy and germline RUNX1 mutation.Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.Molecular features of early onset adult myelodysplastic syndrome Acute myeloid leukemia in the era of precision medicine: recent advances in diagnostic classification and risk stratification.Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).Leveraging premalignant biology for immune-based cancer prevention.A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia.Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel.Preleukemia: one name, many meanings.The GATA factor revolution in hematology.High-throughput sequencing for noninvasive disease detection in hematologic malignancies.Genetic predisposition to hematologic malignancies: management and surveillance.Clinical Relevance of RUNX1 and CBFB Alterations in Acute Myeloid Leukemia and Other Hematological Disorders.Myelodysplastic syndromes and acute leukemia with genetic predispositions: a new challenge for hematologists.Aplastic anemia and clonal evolution: germ line and somatic genetics.Role of RUNX1 in hematological malignancies.Germline Genetic Predisposition to Hematologic Malignancy.Myeloid neoplasms with germ line RUNX1 mutation.Myeloid neoplasms with germline DDX41 mutation.GATA2 deficiency and related myeloid neoplasms.Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.Familial Myelodysplastic/Acute Leukemia Syndromes-Myeloid Neoplasms with Germline Predisposition Histiocytic Sarcoma Associated with Coombs Negative Acute Hemolytic Anemia: A Rare Presentation.Myelodysplasia in younger adults: outlier or unique molecular entity?Clonal hematopoiesis in patients with dyskeratosis congenita.Acute myeloid leukemia in a father and son with a germline mutation of ASXL1.Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.RUNX1 Mutations in Inherited and Sporadic Leukemia.Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree.Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation.Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants.Preleukemic and second-hit mutational events in an acute myeloid leukemia patient with a novel germline RUNX1 mutation.Complete mutational spectrum of the autophagy interactome: a novel class of tumor suppressor genes in myeloid neoplasms.How I diagnose and manage individuals at risk for inherited myeloid malignancies.Bacille Calmette–Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010–2017.Challenges in the introduction of next-generation sequencing (NGS) for diagnostics of myeloid malignancies into clinical routine use When to obtain genomic data in acute myeloid leukemia (AML) and which mutations matter

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Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.

http://www.wikidata.org/entity/Q36322771

description

2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年學術文章

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2015年學術文章

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2015年學術文章

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Genomic analysis of germ line ...... plasia/acute myeloid leukemia.

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Genomic analysis of germ line ...... plasia/acute myeloid leukemia.

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type

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Genomic analysis of germ line ...... plasia/acute myeloid leukemia.

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Genomic analysis of germ line ...... plasia/acute myeloid leukemia.

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Genomic analysis of germ line ...... plasia/acute myeloid leukemia.

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Genomic analysis of germ line ...... plasia/acute myeloid leukemia.

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Genomic analysis of germ line ...... plasia/acute myeloid leukemia.

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Allan Jiang

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Christopher A Miller

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Daniel C Link

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Daniel Koboldt

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Dong Shen

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Evan M Braunstein

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Geoffrey L Uy

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Iskra Pusic

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Jane E Churpek

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Jin Shao

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P2860

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia

VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing

Fast and accurate short read alignment with Burrows-Wheeler transform

The Sequence Alignment/Map format and SAMtools

Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms

Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence

Age-related clonal hematopoiesis associated with adverse outcomes

Age-related mutations associated with clonal hematopoietic expansion and malignancies

GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome

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2484-2490

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10.1182/BLOOD-2015-04-641100

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22

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Catrina Fronick

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26492932

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