Increasing awareness about germline predisposition and the widespread application of
unbiased whole exome sequencing contributed to the discovery of new clinical entities with …

DNA damage response is essential to human physiology. A broad spectrum of pathologies
are displayed by individuals carrying monoallelic or biallelic loss-of-function mutations in …

The response to DNA damage is critical for cellular homeostasis, tumor suppression,
immunity, and gametogenesis. In order to provide an unbiased and global view of the DNA …

The NCCN Guidelines for Myelodysplastic Syndromes (MDS) provide recommendations for
the evaluation, diagnosis, and management of patients with MDS based on a review of …

HOTTIP lncRNA is highly expressed in acute myeloid leukemia (AML) driven by MLL
rearrangements or NPM1 mutations to mediate HOXA topologically associated domain …

The inclusion of familial myeloid malignancies as a separate disease entity in the revised
WHO classification has renewed efforts to improve the recognition and management of this …

Inherited bone marrow (BM) failure syndromes are a diverse group of disorders
characterized by BM failure, usually in association with≥ 1 extrahematopoietic …

Over the last decade, the field of hereditary haematological malignancy syndromes
(HHMSs) has gained increasing recognition among clinicians and scientists worldwide …

In anaphase, any unresolved DNA entanglements between the segregating sister
chromatids can give rise to chromatin bridges. To prevent genome instability, chromatin …

Biallelic germ line excision repair cross-complementing 6 like 2 (ERCC6L2) variants
strongly predispose to bone marrow failure (BMF) and myeloid malignancies, characterized …