Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants

Stubbins, R. J., Arnovitz, S., Vagher, J., Asom, A., Perpich, M., Pies, M., Akpan, I. J., Chew, E., Bridgers, J., Karsan, A., Rodgers, C., Koppayi, A., Basdag, H., Drazer, M. W., Das, S., Cheng, J., Osman, A. E. G., & Godley, L. A. (2025). Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants. Leukemia. https://doi.org/10.1038/s41375-025-02635-1

Authors:

Ryan J Stubbins

Stephen Arnovitz

Jennie Vagher

Anase Asom

Melody Perpich

Madeline Pies

Imo J Akpan

Edward Chew

Joshua Bridgers

Aly Karsan

Courtnee Rodgers

Ashwin Koppayi

Hatice Basdag

Michael W Drazer

Soma Das

Jason Cheng

Afaf E G Osman

Lucy A Godley

Affiliated Authors:

Imo J Akpan

Columbia Affiliation:

Vagelos College of Physicians and Surgeons
- Department of Medicine
  Division of Hematology/Oncology

Subjects:

Acute Myeloid Leukemia (OpenAlex Topic)

Molecular Characterization of Colorectal Cancer (OpenAlex Topic)

Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)

Author Keywords:

checkpoint kinase 2

chek2 protein, human

ebnext mouse immune sequencing kit

gsea v.4.2.2

illumina miseq

illumina novaseq pe100 s1

mixcr v.4.4.2

animal experiment

animal model

animal tissue

article

cohort analysis

controlled study

cytogenetics

disease predisposition

female

gene expression

gene mutation

genetic association

genetic variability

genome-wide association study

genotype

genotyping

germline mutation

hematopoietic system malignancy

hodgkin disease

human

immunohistochemistry

leukocyte count

male

missense mutation

mouse

myeloid leukemia

nonhuman

overall survival

protein expression

rna sequencing

sanger sequencing

single nucleotide polymorphism

tumor suppressor gene

western blotting

whole exome sequencing

adult

aged

animal

genetic predisposition

genetics

hematologic disease

middle aged

pathology

animals

genetic predisposition to disease

germ-line mutation

hematologic neoplasms

humans

mice

elink

Publication Type:

Article

Unique ID:

10.1038/s41375-025-02635-1

PMID:

40335619

DOI:

10.1038/s41375-025-02635-1

Journal:

Leukemia

Publication Date:

2025-05-08

Data Source:

PubMed

Source Link:

View PubMed Record

View OpenAlex Record

View Web of Science Record

View Scopus Record

Record Created:

Tuesday, June 3, 2025 - 08:57

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