Canonical and Noncanonical Roles of Fanconi Anemia Proteins: Implications in Cancer Predisposition.

ABSTRACT: Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder characterized by the variable presence of congenital somatic abnormalities, bone marrow failure (BMF), and a predisposition to develop cancer. Monoallelic germline mutations in at least five genes involved in the FA pathway are associated with the development of sporadic hematological and solid malignancies. The key function of the FA pathway is to orchestrate proteins involved in the repair of interstrand cross-links (ICLs), to prevent genomic instability and replication stress. Recently, many studies have highlighted the importance of FA genes in noncanonical pathways, such as mitochondria homeostasis, inflammation, and virophagy, which act, in some cases, independently of DNA repair processes. Thus, primary defec

SUBMITTER: Milletti G 

PROVIDER: S-EPMC7565043 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature