Radiation Oncology/Cancer Syndromes/Bloom Syndrome

Bloom Syndrome


 * Wikibooks entry
 * Online Mendelian Inheritance in Man entry]
 * DNA Repair Chapter


 * 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