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