Gene Mutation Linked to Exploding Chromosomes and Cancer

Scientists at the German Cancer Research Centre in Heidelberg, Germany have uncovered the mystery behind exploding chromosomes. They refer to this mutation as the guardian of the genome. These scientists were able to create an entire gene sequence of a medulloblastoma. Medulloblastoma is the second leading cause of death in children. While examining the sequence of these genes, researchers found that some of the chromosomes were missing genes or had genes in the wrong location. After looking into this phenomenon a little further, they discovered that these chromosomes had exploded and reassembled in the wrong order. These exploding chromosomes are referred to as chromothripsis. Signs of chromothripsis were only found in patients that had a mutation on the TP53 gene. This mutation causes a shorten telomere. Telomeres become shorter as we age, but if we start off with a small telomere, by the time we are in our 50's the telomere is almost nonexistent, causing the chromosome to shatter. By discovering that a mutated TP35 gene is the cause of chromothripsis, diagnosis of this condition will be much easier. All people who have inherited this gene should be screen regularly because they present and higher risk of developing severe cancers such as medulloblastoma.