chromosomal breakage syndromes
DNA breakage syndromes, breakage syndrome
Genetic disorders marked by chromosome instability and associated with various cancers.
Chromosomal instability can occur when the DNA damage response and repair process fails, resulting in syndromes characterized by growth abnormalities, hematopoietic defects, mutagen sensitivity, and cancer predisposition.
Mutations in ATM, NBS1, MRE11, BLM, WRN, and FANCD2 are responsible for
ataxia telangiectasia (AT)
Nijmegen breakage syndrome
AT-like disorder
Bloom
Werner syndrome
Fanconi anemia group D2
References
Futaki M, Liu JM. Chromosomal breakage syndromes and the BRCA1 genome surveillance complex. Trends Mol Med. 2001 Dec;7(12):560-5. Trends Mol Med 2002 Jan;8(1):49. PMID: 11733219