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