Novel germ line DDX41 mutations define families with a

The emerging roles of the DDX41 protein in immunity and

Aug 09,2016 Novel germ line DDX41 mutations define families with a#0183;Lewinsohn M,Brown AL,Weinel LM,Phung C,Rafidi G,Lee MK,Schreiber AW,Feng J,Babic M,Chong CE,et al.Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.Blood.2016; 127:10171023.doi 10.1182/blood-2015-10-676098.[PMC free article] [Google Scholar]The Impact of Somatic and Germline Mutations in Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.Blood 2016 ; 127 1017 1023 .Lewinsohn M Brown AL Weinel LM .Some results are removed in response to a notice of local law requirement.For more information,please see here.Previous123456NextGermline DDX41 mutations define a significant entity Our study highlights that germline DDX41 mutations are relatively common in adult MDS/AML,often without known family history,arguing for systematic screening.Salient features of DDX41-related myeloid malignancies include male preponderance,frequent preexisting cytopenia,additional somatic DDX41 mutation,and relatively good outcome.

Some results are removed in response to a notice of local law requirement.For more information,please see here.Prevalence and clinical implications of germline

Aug 31,2020 Novel germ line DDX41 mutations define families with a#0183;Lewinsohn,M.et al.Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.BloodOncoGeneDx Hereditary MDS/Leukemia PanelLewinsohn,M.et al.Novel germ line DDX41 mutations define families wit h a lower age of MDS/AML onset and lymphoid malignancies.Blood 127 ,10171023 (2016).

OncoGeneDx Hereditary MDS/Leukemia Panel

Lewinsohn,M.et al.Novel germ line DDX41 mutations define families wit h a lower age of MDS/AML onset and lymphoid malignancies.Blood 127 ,10171023 (2016).OMIM Entry - * 608170 - DEAD-BOX HELICASE 41; DDX41In 1 family,a carrier of the mutation did not have a hematologic malignancy,but did have a history inflammatory-related disorders,including sarcoidosis and eczema. Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset andNovel germ line DDX41 mutations define families with a Recently our group and others have identified DDX41 mutations both as germ line and acquired somatic mutations in families with multiple cases of late onset myelodysplastic syndrome (MDS) and/or acute myeloid leukemia (AML),suggesting that DDX41 acts as a tumor suppressor.

Novel germ line DDX41 mutations define families with a

Feb 25,2016 Novel germ line DDX41 mutations define families with a#0183;Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.1.Blood.2016 Feb 25;127(8):1017-23.doi 10.1182/blood-2015-10-676098.Epub 2015Dec 28.Novel germ line DDX41 mutations define families with a lower age of MDS/AML onsetand lymphoid malignancies.Lewinsohn M(1),Brown AL(2),Weinel LM(3),Phung C(1),RafidiNovel germ line DDX41 mutations define families with a Abstract.Recently our group and others have identified DDX41 mutations both as germ line and acquired somatic mutations in families with multiple cases of late onset myelodysplastic syndrome (MDS) and/or acute myeloid leukemia (AML),suggesting that DDX41 acts as a tumor suppressor.Novel germ line DDX41 mutations define families with a Abstract.Recently our group and others have identified DDX41 mutations both as germ line and acquired somatic mutations in families with multiple cases of late onset myelodysplastic syndrome (MDS) and/or acute myeloid leukemia (AML),suggesting that DDX41 acts as a tumor suppressor.

Novel DDX41 variants in Thai patients with myeloid

Nov 11,2019 Novel germ line DDX41 mutations define families with a#0183;Lewinsohn M,Brown AL,Weinel LM,Phung C,Rafidi G,Lee MK,et al.Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.Blood.2016;127:101723.CAS Article Google ScholarNovel DDX41 variants in Thai patients with myeloid Nov 11,2019 Novel germ line DDX41 mutations define families with a#0183;Lewinsohn M,Brown AL,Weinel LM,Phung C,Rafidi G,Lee MK,et al.Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.Blood.2016;127:101723.CAS Article Google ScholarNordic Guidelines for Germline Predisposition to Myeloid Nov 04,2019 Novel germ line DDX41 mutations define families with a#0183;Lewinsohn M,Brown AL,Weinel LM,et al.Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.Blood.2016; 127:10171023.[PMC free article] [Google Scholar]

Myeloid Neoplasm With Germline Predisposition A 2016

Jan 01,2019 Novel germ line DDX41 mutations define families with a#0183;(22.) Lewinsohn M,Brown AL,Weinel LM,et al.Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.Blood.2016;127(8):1017-1023.(23.) Cardoso SR,Ryan G,Walne AJ,et al.Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia.Myeloid Neoplasm With Germline Predisposition A 2016 Jan 01,2019 Novel germ line DDX41 mutations define families with a#0183;(22.) Lewinsohn M,Brown AL,Weinel LM,et al.Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.Blood.2016;127(8):1017-1023.(23.) Cardoso SR,Ryan G,Walne AJ,et al.Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia.Myeloid Neoplasm With Germline Predisposition A 2016 Families with germline CEBPA mutations are rare and have been reported in only about 20 pedigrees.213 Studies of large series of normal-karyotype AML have reported a frequency of CEBPA mutation of 8% to 13% 4,8,14 ; among these,7% to 11% have germline CEBPA mutations.4,8 The majority of the AML patients have 2 CEBPA mutations with both N

Leukemia Keel,Sioban - Expertscape

ABSTRACT Recently our group and others have identified DDX41 mutations both as germ line and acquired somatic mutations in families with multiple cases of late onset myelodysplastic syndrome (MDS) and/or acute myeloid leukemia (AML),suggesting that DDX41 acts as a tumor suppressor.To determine whether novel DDX41 mutations could be Germline heterozygous DDX41 variants in a subset of Jun 02,2016 Novel germ line DDX41 mutations define families with a#0183;Novel germline DDX41 mutations define families with a lower age of MDS/AML onset,and lymphoid malignancies.Blood 2016; 127 10171023.CAS Article Google ScholarGermline heterozygous DDX41 variants in a subset of In Family 1 (),a novel heterozygous germline variant c.155dupA (p.Arg53Alafs*16 showed in Figure 1e) in DDX41 was identified in the 49-year-old female index case (III-1) diagnosed with MDS

Germline DDX41 mutations define a significant entity

Our study highlights that germline DDX41 mutations are relatively common in adult MDS/AML,often without known family history,arguing for systematic screening.Salient features of DDX41-related myeloid malignancies include male preponderance,frequent preexisting cytopenia,additional somatic DDX41 mutation,and relatively good outcome.Germ line mutations associated with leukemiasGerm line mutations in DDX41 were more recently described to define another disorder in which cancer predisposition seems to be limited to the hematopoietic system.43-46 Patients with a germ line mutation in DDX41 tend to be older at the time of presentation of hematologic malignancy,as compared with other leukemia predisposition disorders Genetic predisposition in acute leukaemia9.Quesada AE,Routbort MJ,DiNardo CD,et al.DDX41 mutations in myeloid neoplasms are associated with male gender,TP53 muta-tions and high-risk disease.Am J Hematol.2019;94(7):757-766.10.Lewinsohn M,Brown AL,Weinel LM,et al.Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.

Genetic predisposition in acute leukaemia - Wiggins - 2020

Polprasert and colleagues first described germline DDX41 mutations in 2015 in a series of families with MDS and AML.They identified DDX41 mutations in approximately 1.5% of individuals in a cohort of patients with myeloid neoplasms with half of those affected having germline variants.7 More than 50% of these cases demonstrated biallelic Discussing and managing hematologic germ line variants Dec 02,2016 Novel germ line DDX41 mutations define families with a#0183;Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.Blood.2016; 127 (8) 1017-1023.Google Scholar.Crossref.Search ADS.PubMed 8.Li.R,Sobreira.N,Witmer.PD,Pratz.KW,Braunstein.EM.Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid DDX41-related myeloid neoplasia - ScienceDirectApr 01,2017 Novel germ line DDX41 mutations define families with a#0183;M.Lewinsohn,A.L.Brown,L.M.Weinel,et al.Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies Blood,127 (8) (2016),pp.1017-1023 Google Scholar

DDX41-related myeloid neoplasia - ScienceDirect

Apr 01,2017 Novel germ line DDX41 mutations define families with a#0183;M.Lewinsohn,A.L.Brown,L.M.Weinel,et al.Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies Blood,127 (8) (2016),pp.1017-1023 Google ScholarCited by 9Publish Year 2019Author Marie S Novel germ line DDX41 mutations define families with a#233;bert,Marie S Novel germ line DDX41 mutations define families with a#233;bert,Marie Passet,Marie Passet,Anna Raimbault,Anna Raimbault,Ramy Rahm Novel germ line DDX41 mutations define families with a#233;,Germline DDX41 mutations define a significant entity Germline DDX41 mutations are involved in familial myelodysplastic syndromes (MDSs) and acute myeloid leukemias (AMLs).We analyzed the prevalence and characteristics of DDX41-related myeloid malignancies in an unselected cohort of 1385 patients with MDS or AML.Cited by 28Publish Year 2016Author Ruijuan Li,Nara Sobreira,P.Dane Witmer,Keith W.Pratz,Evan M.BraunsteinGermline DDX41 mutations define a significant entity Oct 24,2019 Novel germ line DDX41 mutations define families with a#0183;Germline DDX41 mutations are involved in familial myelodysplastic syndromes (MDSs) and acute myeloid leukemias (AMLs).We analyzed the prevalence and characteristics of DDX41-related myeloid malignancies in an unselected cohort of 1385 patients with MDS or AML.Using targeted next-generation sequencing,we identified 28 different germline DDX41 variants in 43 unrelated patients,

Cited by 114Publish Year 2016Author Maya Lewinsohn,Anna L.Brown,Anna L.Brown,Luke M.Weinel,Connie Phung,George Rafidi,Ming K.LTwo novel germline DDX41 mutations in a family with

Approximately 50% of individuals with a germline DDX41 mutation were reported to have an additional acquired somatic DDX41 mutation in their tumor DNA.7 The most frequently identified mutation is c.1574G Novel germ line DDX41 mutations define families with agt;A,p.R525H,which corresponds to a highly conserved region across the DDX family in the helicase domain thought to contribute to nucleotide co-ordination.11 We sequenced the entire DDX41 Cited by 114Publish Year 2016Author Maya Lewinsohn,Anna L.Brown,Anna L.Brown,Luke M.Weinel,Connie Phung,George Rafidi,Ming K.LNovel germ line DDX41 mutations define families with a Feb 25,2016 Novel germ line DDX41 mutations define families with a#0183;Recently our group and others have identified DDX41 mutations both as germ line and acquired somatic mutations in families with multiple cases of late onset myelodysplastic syndrome (MDS) and/or acute myeloid leukemia (AML),suggesting that DDX41 acts as a tumor suppressor.To determine whether novel DDX41 mutations could be identified in families with additional types ofAdelaide Research Scholarship Novel germ line DDX41 This study expands both the mutation and phenotypic spectra observed in families with germ line DDX41 mutations.With an increasing number of both inherited and acquired mutations in this gene being identified,further study of how DDX41 disruption leads to hematologic malignancies is critical.

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This study expands both the mutation and phenotypic spectra observed in families with germline DDX41 mutations.With an increasing number of both inherited and acquired mutations in this gene being identified,further study of how DDX41 disruption leads to hematologic malignancies is critical.View details for DOI 10.1182/blood-2015-10-67609812345NextNovel germ line DDX41 mutations define families with a Dec 28,2015 Novel germ line DDX41 mutations define families with a#0183;Recently our group and others have identified DDX41 mutations both as germ line and acquired somatic mutations in families with multiple cases of late onset myelodysplastic syndrome (MDS) and/or acute myeloid leukemia (AML),suggesting that DDX41 acts as a tumor suppressor.To determine whether novel DDX41 mutations could be identified in families with additional types of