Beyond Pathogenic <i>RUNX1</i> Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic Malignancies

Beyond Pathogenic <i>RUNX1</i> Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic Malignancies

Pathogenic loss-of-function <i>RUNX1</i> germline variants cause autosomal dominantly-inherited familial platelet disorder with predisposition to hematologic malignancies (RUNX1-FPD). RUNX1-FPD is characterized by incomplete penetrance and a broad spectrum of clinical phenotypes, even wi...

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Bibliographic Details
Main Authors: Alisa Förster, Melanie Decker, Brigitte Schlegelberger, Tim Ripperger
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:Cancers
Subjects:
<i>RUNX1</i> germline variants
RUNX1-FPD
leukemia predisposition
hematologic malignancies
somatic mutations
Online Access:https://www.mdpi.com/2072-6694/14/14/3431

Internet

https://www.mdpi.com/2072-6694/14/14/3431

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