Molecular cross-talk among chromosome fragility syndromes

DNA caretaker genes are defective in several human syndromes known as “chromosomal breakage” or “chromosomal fragility” disorders, which include autosomal recessive diseases such as Fanconi anemia (FA), ataxia telangiectasia (AT), and Nijmegen breakage syndrome (NBS), among others. Dominantly inherited high risk for breast and ovarian cancer is associated with mutations in the BRCA1/BRCA2 genes, whose protein products are also known to be crucial for chromosome stability.