Bloom Syndrome
... Mutations in the Blm gene causes Bloom Syndrome, (BS), a rare genetic autosomal recessive disorder expressed via tumors in various tissue types (2). ... Many of the tumors characteristic of this syndrome are caused by increased chromosome instability, such as chromosomal breakage and sister chromatid exchanges (1). ... Studies performed by Bishop and Schiestl have shown the process by which mutation of the Blm gene leads to the Bloom Syndrome and increased susceptibility to cancer. ... We already discussed that the most commonly reported event in the diagnosis of Bloom Syndrome is LOH.