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World first study of faulty genes for breast cancer

Results of a world-first, large-scale study of faulty genes and breast cancer, with significant Australian contributions including research from the University of Melbourne have been released in the international journal Nature.

This research discovery is a step towards explaining genetic influences on breast cancer risk, not just for women with a family history of breast cancer but also for the majority of women in the general population.

Researchers at Cambridge University brought together an international team in the world’s first large-scale ‘whole genome search’ for faulty genes for breast cancer.

The study involved the analysis of DNA from nearly 50,000 women worldwide. About 15% of women with breast cancer have strong family history of breast cancer and are at two to three times the average risk of getting breast cancer themselves.

The international study shows that if a woman carries one faulty copy of one of these low risk genes, her risk of getting breast cancer might increase by about 20% but if she carries two faulty copies, her risk increases by between 40% and 60%.

This discovery will promote new research efforts to further understanding of biological mechanisms.

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