Fanconi anemia (FA) is a rare and complex inherited genetic disorder characterized by
impaired DNA repair mechanisms leading to genomic instability. Individuals with FA have …

Background Fanconi anemia (FA) is the most common inherited bone marrow failure
syndrome. However, establishing its molecular diagnosis remains challenging …

Living organisms are exposed to exogenous and endogenous agents that affect genomic
integrity by creating DNA double strand breaks (DSBs). These breaks are repaired by DNA …

Background Fanconi anaemia (FA) is a rare inherited bone marrow failure disease caused
by germline pathogenic variants in any of the 22 genes involved in the FA-DNA interstrand …

Background Fanconi anemia is a genetically heterogeneous recessive disorder
distinguished by cytogenetic instability, hypersensitivity to DNA crosslinking agents …

Partner and localiser of BRCA2 (PALB2), also known as FANCN, is a key tumour suppressor
gene in maintaining genome integrity. Monoallelic mutations of PALB2 are associated with …

Fanconi anemia (FA) is a rare inherited bone marrow failure syndrome characterized by
pancytopenia, increased susceptibility to malignancies, and a spectrum of congenital …

Background. The high sensitivity of cells of Fanconi anemia (FA) patients to DNA cross-
linking agents (clastogens), such as mitomycin C (MMC), was used as a screening tool in …

Bloom syndrome (BS) is an autosomal recessive disease clinically characterized by primary
microcephaly, growth deficiency, immunodeficiency and predisposition to cancer. It is mainly …

The tumor suppressor BRCA1 encodes multiple protein products including the canonical
BRCA1-p220 (p220), which plays important roles in repair of diverse types of DNA damage …