Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms

Chantana Polprasert, Isabell Schulze, Mikkael A. Sekeres, +33

Cancer Cell

Hematological MalignancySomatic DefectsHematologyHistopathologyPathology +2

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

Michael Y. Zhang, Jane E. Churpek, Sioḃán Keel, +23

Nature Genetics

Hematological MalignancyHematologyPathologyMolecular DiagnosticsGermline Etv6 Mutations

Validation and Implementation of Targeted Capture and Sequencing for the Detection of Actionable Mutation, Copy Number Variation, and Gene Rearrangement in Clinical Cancer Specimens

Colin C. Pritchard, Stephen J. Salipante, Karen M. Koehler, +17

Journal of Molecular Diagnostics

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

Jane E. Churpek, Khateriaa Pyrtel, K. Kanchi, +24

Blood

Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma

Vasiliki Panou, Meghana Gadiraju, Arthur Wolin, +22

Journal of Clinical Oncology

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

Maya Lewinsohn, Anna Brown, Luke M. Weinel, +27

Blood

Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy‐related leukemia

Jane E. Churpek, Rafael Márquez, Barbara Neistadt, +13

Cancer

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

Alyssa L. Kennedy, Kasiani C. Myers, James R. Bowman, +40

Nature Communications

Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC)

Courtney D. DiNardo, Sarah A. Bannon, Mark J. Routbort, +17

Clinical Lymphoma Myeloma & Leukemia

Hematological MalignancyFamily MedicineMedicineMalignant Blood DisorderHematology +5

Germline Lysine-Specific Demethylase 1 ( <i>LSD1/KDM1A</i> ) Mutations Confer Susceptibility to Multiple Myeloma

Xiaomu Wei, M. Nieves Calvo-Vidal, Siwei Chen, +40

Cancer Research