The team led by Dr Nazneen Rahman has been studying children with a rare genetic disorder to discover what causes their cells to divide incorrectly and to find out whether there are links to similar errors that occur in many cancers.
This unique approach has now led scientists to the groundbreaking discovery that mutations in the BUB1B gene result in cells having the wrong number of chromosomes, which in turn can lead to cancer in children.
Normal cells have 46 chromosomes and a cell with more or less than this number it is said to be aneuploid ™. Aneuploidy is very common in many cancers, but until now, scientists have not been sure whether it is a symptom or cause of the cancer. However this new study shows that mutations in the BUB1B gene cause aneuploidy and a high risk of cancer.
Dr Rahman ™s team at The Institute studied a group of eight families with a very rare disorder called Mosaic Variegated Aneuploidy (MVA) syndrome. In five families the children had two mutations in the BUB1B gene, which led to many of their cells having the wrong number of chromosomes. The children had a variety of problems such learning difficulties and heart defects and two developed cancer.
Dr Nazneen Rahman, Team Leader in Cancer Genetics at The Institute of Cancer Research comments:
This study has been extremely valuable, not only in helping us understand the cause of MVA, but in demonstrating that aneuploidy, the loss or gain of chromosomes, is not merely a symptom of many cancers, but may well be a cause. We are very excited at the prospect of future studies to see if the BUB1B gene is involved in generating aneuploidy in common cancers that occur in otherwise healthy people.
Professor Peter Rigby, Chief Executive of The Institute of Cancer Research comments:
The discovery of this gene is groundbreaking research that reinforces The Institute's reputation as the world leader in cancer genetics. It provides us with new insight into what is probably an important mechanism in the development of many cancers, and we look forward to future results.
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