Two new regions of the human genome linked to breast cancer have been found by an international team of scientists led by Cambridge University researchers; one increases the risk while the other reduces the risk of developing breast cancer.
Two new regions of the human genome linked to breast cancer have been found by an international team of scientists led by Cambridge University researchers; one increases the risk while the other reduces the risk of developing breast cancer.
These two new genes bring us closer to developing a better test to identify women who are at a high risk of developing breast cancer, but there are still many more pieces of the puzzle to find.
Professor Doug Easton
This new study, published yesterday in Nature Genetics, identified one genetic region that reduces the risk of breast cancer by about 4 per cent for women with one faulty copy and by 11 per cent with two faulty copies. Mutations are normally associated with an increase in cancer risk but in some cases it can decrease the risk.
The second region was found to increase breast cancer risk by about 12 per cent in women who carry one faulty copy of the gene and by 23 per cent if they carry to faulty copies.
Professor Doug Easton, lead author and director of Cancer Research UK's Genetic Epidemiology Unit at Cambridge University, said: "These two new genes bring us closer to developing a better test to identify women who are at a high risk of developing breast cancer, but there are still many more pieces of the puzzle to find."
Researchers have now identified 13 genetic regions with common genetic changes that alter breast cancer risk. The increased risks acquired from these faults are small, but as more are found it will be possible to create tests for combinations of genes that significantly increase the risk.
Such tests could help doctors make better decisions about prevention, diagnosis and treatment for women who are more likely to develop breast cancer.
To identify these two regions, the research team scanned the entire genetic code in more than 400 women with breast cancer to identify faulty genes that appeared more regularly in cancer patients than in health women.
They then tested the most promising regions in more than 40,000 women with breast cancer, and 40,000 women without breast cancer, in an international collaboration involving more than 100 scientists from 16 countries.
One in 14 women in the general population are thought to carry two faulty copies of the marker that decreases the risk - rs6504950. One in five women are thought to carry two faulty copies of the markers that increase the risk - rs4973768.
Breast cancer is the most common cancer in the UK with more than 45,500 new cancers diagnosed each year.
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