Whole Genome Sequencing Uncovers a Rare Germline Variant in ATM Associated with Familial Myeloproliferative Neoplasms

被引：0
|
作者：
Wang, Shiyu [1 ]
Chen, Hang [2 ]
Imada, Eddie [3 ]
Ghannam, Jack [4 ]
Dalgard, Clifton L. [5 ]
Alba, Camille [6 ]
Hourigan, Christopher S. [4 ]
Marchionni, Luigi [3 ]
Moliterno, Alison R. [2 ]
Gondek, Lukasz P. [1 ]
Braunstein, Evan M. [2 ]
机构：
[1] Johns Hopkins Univ, Div Hematol Malignancies, Sidney Kimmel Comprehens Canc Ctr, Baltimore, MD USA
[2] Johns Hopkins Univ Hosp, Div Hematol, Dept Med, Baltimore, MD USA
[3] Weill Cornell Med, Div Computat & Syst Pathol, Dept Pathol & Lab Med, New York, NY USA
[4] Natl Heart Lung & Blood Inst, Natl Inst Hlth, Lab Myeloid Malignancies, Bethesda, MD USA
[5] Uniformed Serv Univ Hlth Sci, Dept Anat Physiol & Genet, Bethesda, MD USA
[6] Uniformed Serv Univ Hlth Sci, Henry Jackson Fdn, Collaborat Hlth Initiat Res Program, Bethesda, MD USA
来源：
BLOOD | 2021年 / 138卷
关键词：
D O I：
10.1182/blood-2021-153317
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
3592
引用
收藏
页数：4
相关论文
共 50 条
  • [1] Recurrent germline variant in ATM associated with familial myeloproliferative neoplasms
    Braunstein, Evan M. M.
    Imada, Eddie
    Pasca, Sergiu
    Wang, Shiyu
    Chen, Hang
    Alba, Camille
    Hupalo, Dan N. N.
    Wilkerson, Matthew
    Dalgard, Clifton L. L.
    Ghannam, Jack
    Liu, Yujia
    Marchionni, Luigi
    Moliterno, Alison
    Hourigan, Christopher S. S.
    Gondek, Lukasz P. P.
    LEUKEMIA, 2023, 37 (03) : 627 - 635
  • [2] Recurrent germline variant in ATM associated with familial myeloproliferative neoplasms
    Evan M. Braunstein
    Eddie Imada
    Sergiu Pasca
    Shiyu Wang
    Hang Chen
    Camille Alba
    Dan N. Hupalo
    Matthew Wilkerson
    Clifton L. Dalgard
    Jack Ghannam
    Yujia Liu
    Luigi Marchionni
    Alison Moliterno
    Christopher S. Hourigan
    Lukasz P. Gondek
    Leukemia, 2023, 37 : 627 - 635
  • [3] Evaluation of the ATM L2307F germline variant in 121 Italian pedigrees with familial myeloproliferative neoplasms
    Borsani, Oscar
    Jaeger, Roland
    Pietra, Daniela
    Flieder, Ines
    Riccaboni, Giacomo
    Kralovics, Robert
    Rumi, Elisa
    HAEMATOLOGICA, 2024, 109 (08) : 2738 - 2740
  • [4] Germline Mutations Predispose to Familial Myeloproliferative Neoplasms
    Berg, Stephanie
    Diaz, Manuel O.
    Nand, Sucha
    Zhang, Jiwang
    BLOOD, 2019, 134
  • [5] A Germline Variant in the TERT Gene Is a Novel Predisposition Allele Associated with Myeloproliferative Neoplasms
    Hinds, David A.
    Barnholt, Kimberly E.
    Zehnder, James L.
    Kiefer, Amy K.
    Do, Chuong B.
    Eriksson, Nicholas
    Mountain, Joanna L.
    Francke, Uta
    Tung, Joyce A.
    Huong Nguyen
    Levine, Ross L.
    Mesa, Ruben A.
    Gotlib, Jason
    BLOOD, 2012, 120 (21)
  • [6] Germline RBBP6 mutations in familial myeloproliferative neoplasms
    Harutyunyan, Ashot S.
    Giambruno, Roberto
    Krendl, Christian
    Stukalov, Alexey
    Klampfl, Thorsten
    Berg, Tiina
    Chen, Doris
    Feenstra, Jelena D. Milosevic
    Jaeger, Roland
    Gisslinger, Bettina
    Gisslinger, Heinz
    Rumi, Elisa
    Passamonti, Francesco
    Pietra, Daniela
    Mueller, Andre C.
    Parapatics, Katja
    Breitwieser, Florian P.
    Herrmann, Richard
    Colinge, Jacques
    Bennett, Keiryn L.
    Superti-Furga, Giulio
    Cazzola, Mario
    Hammond, Emma
    Kralovics, Robert
    BLOOD, 2016, 127 (03) : 362 - 365
  • [7] A novel germline JAK2 mutation in familial myeloproliferative neoplasms
    Rumi, Elisa
    Harutyunyan, Ashot S.
    Casetti, Ilaria
    Pietra, Daniela
    Nivarthi, Harini
    Moriggl, Richard
    Cleary, Ciara
    Bagienski, Klaudia
    Astori, Cesare
    Bellini, Marta
    Berg, Tiina
    Passamonti, Francesco
    Kralovics, Robert
    Cazzola, Mario
    AMERICAN JOURNAL OF HEMATOLOGY, 2014, 89 (01) : 117 - 118
  • [8] Whole genome sequencing and rare variant analysis in essential tremor families
    Odgerel, Zagaa
    Sonti, Shilpa
    Hernandez, Nora
    Park, Jemin
    Ottman, Ruth
    Louis, Elan D.
    Clark, Lorraine N.
    PLOS ONE, 2019, 14 (08):
  • [9] Whole Genome Sequencing and Rare Variant Analysis in Essential Tremor Families
    Clark, Lorraine
    Odgerel, Zagaa
    Hernandez, Nora
    Ottman, Ruth
    Louis, Elan
    NEUROLOGY, 2017, 88
  • [10] Severe Capecitabine Toxicity Associated With a Rare DPYD Variant Identified Through Whole-Genome Sequencing
    Ly, Reynold C.
    Schmidt, Remington E.
    Kiel, Patrick J.
    Pratt, Victoria M.
    Schneider, Bryan P.
    Radovich, Milan
    Offer, Steven M.
    Diasio, Robert B.
    Skaar, Todd C.
    JCO PRECISION ONCOLOGY, 2020, 4 : 632 - 638
12345