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chromosomal breakage syndromes

Wednesday 19 November 2003

Definition: 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 the folowing diseases:

- ataxia telangiectasia (AT)
- Nijmegen breakage syndrome
- AT-like disorder
- Bloom
- Werner syndrome
- Fanconi anemia group D2


- 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