Five new genetic variants that could cause cancer
19 May 2010 by Evoluted New Media
More than 45,500 new cases of breast cancer are diagnosed each year, and scientists have now discovered five new regions of the genome that can increase a woman’s risk of developing the disease by five to 16 percent.
More than 45,500 new cases of breast cancer are diagnosed each year, and scientists have now discovered five new regions of the genome that can increase a woman’s risk of developing the disease by five to 16 percent.
This takes the number of ‘low risk’ genetic variants – many of which appear to predispose towards oestrogen receptor positive breast cancer – up to 18. The work – funded by Cancer research UK and the Wellcome Trust – may help improve prevention, diagnosis and treatment for women likely to develop the disease.
“While each of these sites have a small impact on breast cancer, by finding more of these genes we may be able to develop a test that can predict more reliably a woman’s risk of developing breast cancer,” said lead author, professor Doug Eaton, director of Cancer Research UK’s Genetic Epidemiology Unit.
Scientists from the University of Cambridge and the Institute of Cancer Research (ICR) scanned the entire genome of over 4,000 women with breast cancer and a family history of the disease for genetic variations that appeared more often than in healthy women. The most promising regions were tested in over 12,000 women with the disease, and the same number without.
“Our results now take the total number of gene regions linked to breast cancer to 18, but we still don’t know which genes are causing this increased risk,” said Professor Nazneen Rahman, professor of human genetics at ICR, “Identifying the underlying genes and mechanisms behind breast cancer development is essential to increasing our understanding of the disease and ultimately finding new treatments.”
One of the sites identified contains the gene CDK2NA, which regulates cell division and is mutated in the DNA of many tumours. It has also been linked to an increased risk of skin cancer.
“This research takes us a step closer to developing a powerful genetic test for the disease,” said Dr Helen George, head of science information at Cancer Research UK, “Such a test could help doctors identify women who have an increased breast cancer risk so that they can make informed decisions about how to take steps to reduce their chance of developing the disease.”
