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