The CRISPR-Cas system and clinical applications of CRISPR-based gene editing in hematology with a focus on inherited germline predisposition to hematologic …

R Kansal - Genes, 2024 - mdpi.com
Clustered regularly interspaced short palindromic repeats (CRISPR)-based gene editing
has begun to transform the treatment landscape of genetic diseases. The history of the …

Germline Variants and Characteristic Features of Hereditary Hematological Malignancy Syndrome

H Arai, H Matsui, SG Chi, Y Utsu, S Masuda… - International Journal of …, 2024 - mdpi.com
Due to the proliferation of genetic testing, pathogenic germline variants predisposing to
hereditary hematological malignancy syndrome (HHMS) have been identified in an …

Germline Predisposition in Hematologic Malignancies: Testing, Management, and Implications

LA Godley, CD DiNardo, K Bolton - American Society of Clinical …, 2024 - ascopubs.org
Although numerous barriers for clinical germline cancer predisposition testing exist, the
increasing recognition of deleterious germline DNA variants contributing to myeloid …

Unraveling germline predisposition in hematological neoplasms: Navigating complexity in the genomic era

J Jerez, M Santiago - Blood Reviews, 2024 - Elsevier
Genomic advancements have yielded pivotal insights into hematological neoplasms,
particularly concerning germline predisposition mutations. Following the WHO 2016 …

[HTML][HTML] Expedited evaluation of hereditary hematopoietic malignancies in the setting of stem cell transplantation

GW Roloff, S Kosuri, MT Nawas, AS DuVall… - …, 2024 - pmc.ncbi.nlm.nih.gov
Expedited evaluation of hereditary hematopoietic malignancies in the setting of stem cell
transplantation - PMC Skip to main content Here's how you know Official websites use .gov A …

Germline assessment for alloHSCT candidates over 50 years: A 'Fast‐Track'screening in myeloid neoplasms

S Torres‐Esquius, F Beas… - British Journal of …, 2024 - Wiley Online Library
Patients aged 50 or above diagnosed with myeloid neoplasms (MNs) are typically not
candidates for germline testing. However, approximately 8% carry pathogenic germline …

Evaluation of the pathogenic potential of germline DDX41 variants in hematopoietic neoplasms using the ACMG/AMP guidelines

H Matsui, M Hirata - International Journal of Hematology, 2024 - Springer
Clinical use of gene panel testing for hematopoietic neoplasms in areas, such as diagnosis,
prognosis prediction, and exploration of treatment options, has increased in recent years …

Allogeneic Hematopoietic Stem Cell Transplantation for Acute Myeloid Leukemia With a Germline DDX41 Mutation

S Yoshida, Y Semba, S Takashima… - Case Reports in …, 2024 - Wiley Online Library
According to the 2016 World Health Organization classification, a germline DEAD‐box
helicase 41 gene (DDX41) mutation with myeloid neoplasms has been newly classified. The …

Germline DDX41 mutations in myeloid neoplasms: the current clinical and molecular understanding

J Kida, TM Chlon - Current Opinion in Hematology - journals.lww.com
While intensive investigations unveiled a strong genotype–phenotype relationship, the
optimal therapeutic approach and long-term outcome are undefined. There is an urgent …