The primary connection between FA and cancer lies in the DNA repair mechanisms. Individuals with FA have mutations in one or more of the 22 genes responsible for the FA pathway, which is crucial for repairing DNA damage. Impaired DNA repair leads to genomic instability, making cells more prone to mutations that can lead to cancer. Consequently, FA patients are at a higher risk of developing hematologic cancers such as acute myeloid leukemia (AML) and solid tumors, particularly in the head, neck, and gynecological regions.
