Ann Conkle
Jan 19, 2012

Inherited mutation links exploding chromosomes to cancer

An inherited mutation is likely the link between exploding chromosomes and some aggressive types of cancer. Looking at the complete genome sequence of childhood brain tumors, scientists found one or two chromosomes in each cell had countless parts in the wrong order, missing or repeated. Researchers found these tell-tale signs of chromosome explosion, or chromothripsis, in samples from patients who have a mutation in the TP53 gene, but not in patients with normal TP53. Cancer treatment often involves killing the tumor cells by damaging their DNA. If a patient has inherited the TP53 mutation, all their cells will have faulty copies of this gene, including healthy cells surrounding the tumor. Thus, those healthy cells will have trouble dealing with the DNA damage and could become cancerous also. The findings have immediate clinical implications in that such patients should not be given DNA-damaging chemotherapy or radiotherapy, that could  increase the likelihood of secondary cancers.

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