Open Access Journal
QUALIS
B1
2021-2024
quadriênio
Open Access Journal
B1
2021-2024
quadriênio
Fanconi anemia (FA) is a rare and serious genetic disease, inherited in an autosomal recessive manner, characterized by progressive bone marrow failure, multiple birth defects, and a significantly increased risk of developing cancer. Its pathogenesis lies in intrinsic problems in DNA repair mechanisms, which compromise the integrity of the cells' genetic material. Mutations in specific genes, such as FANCA, FANCB, FANCC, and FANCD2, among others, which are essential for DNA repair, prevent cells from effectively repairing damage. This leads to the accumulation of genetic damage, such as chromosomal breaks and rearrangements, resulting in chromosomal instability and increased susceptibility to genotoxic agents. Clinical manifestations of FA include short stature, skeletal and renal anomalies, and other malformations. The elevated risk of cancer, especially acute myeloid leukemia (AML) and solid tumors, is a direct consequence of this genomic instability. A thorough understanding of the molecular mechanisms of FA is fundamental to developing more effective and targeted treatments. Research is crucial to understanding the complexity of the disease and creating innovative therapeutic strategies. Recent studies highlight the importance of pathogenic variants in FA/BRCA pathway genes in modulating cancer risk, reinforcing the need for personalized approaches for each patient. Ongoing research into these mechanisms is vital to improving the prognosis and quality of life of those affected, driving the development of safer and more effective therapies. It offers new perspectives for clinical interventions and disease management, essential for advancing treatment and patient support.
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Copyright (c) 2026 Letícia de Barros Godoi, Beatriz Vitória Coutinho Barbosa , Alexandre Magno Leite Torres , James de Oliveira Júnior , Izabela Oliveira de Barros Nonato