Radiation Oncology/Cancer Syndromes/Bloom Syndrome

Bloom Syndrome

Mutation in BLM gene, which is a DNA helicase involved in DNA replication and homologous recombination DNA repair
Severe growth retardation (intra-uterine and post-natal) and a sun-sensitive erythematous skin lesions, most commonly on the face. Recurrent infections, chronic pulmonary disease, and diabetes mellitus are common.
Increased rate of mutation, leading high risk of cancer
Inherited as autosomal recessive
300 cases reported
Cancer risk:
- Cancer types resemble general population, but are much more frequent and occur much earlier
- Cancer most common cause of death

This article is issued from Wikibooks. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.