A practical guide to interpreting germline variants that drive hematopoietic malignancies, bone marrow failure, and chronic cytopenias.

Feurstein, Simone; Hahn, Christopher N; Mehta, Nikita; Godley, Lucy A

Feurstein, Simone; Hahn, Christopher N; Mehta, Nikita; Godley, Lucy A.

Afiliación

Feurstein S; Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL; Section of Hematology, Oncology and Rheumatology, Department of Internal Medicine, Heidelberg University Hospital, Heidelberg, Germany.
Hahn CN; Molecular Pathology Research Laboratory, Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, South Australia, Australia; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
Mehta N; Diagnostic Molecular Genetics Laboratory, Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY.
Godley LA; Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL; Department of Human Genetics, The University of Chicago, Chicago, IL. Electronic address: lgodley@medicine.bsd.uchicago.edu.

Genet Med ; 24(4): 931-954, 2022 04.

Article en En | MEDLINE | ID: mdl-35063349

Asunto(s)

Genoma Humano; Neoplasias Hematológicas; Trastornos de Fallo de la Médula Ósea/genética; Pruebas Genéticas/métodos; Variación Genética; Células Germinativas; Neoplasias Hematológicas/genética; Humanos

Palabras clave

ACMG/AMP criteria; Bone marrow failure; Cytopenia; Germline variant curation; Hematopoietic malignancies

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Genoma Humano / Neoplasias Hematológicas Tipo de estudio: Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Alemania

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