Institution: Laboratorio de Citogenetica, Instituto Nacional de Pediatría, Mexico City, México Area of expertise: Medical genetics, dysmorphology. My work: I am a medical geneticist from Mexico City, introduced to the field of Fanconi anemia (FA) by my mentor, Dr. Sara Frias, whom...
Fanconi Anemia Explained
What Is FA?
FA is a genetic disease caused by mutations in any of the known 23 genes (including genes such as BRCA1 and BRCA2) that play a role in the FA DNA repair pathway. FA is considered a cancer-predisposition or cancer-susceptibility disease. Decades of research have revealed that faulty DNA repair causes FA, and individuals with FA are much more likely to develop cancer at a young age.