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Hereditary breast cancer: genetic code unravelled

1 March 2012

Ground-breaking UK-led research has unravelled the complete genetic code of the most common type of hereditary breast cancer for the first time.

Scientists from the Breakthrough Breast Cancer Research Centre at The Institute of Cancer Research (ICR) have fully sequenced the DNA of two breast cancers caused by a faulty BRCA1 gene. Surprisingly, changes in the genetic code of the two tumours looked almost entirely different from one another. This information can now help scientists identify better treatment strategies for patients with a faulty BRCA1 gene.

Hereditary breast cancer accounts for up to 10% of all breast cancers, or around 4,500 cases in the UK each year. The most common cause is a faulty BRCA1 gene. Women with a BRCA1 mutation have around  up to 85 per cent risk of developing breast cancer during their lifetime. BRCA1 breast cancers are usually aggressive and typically do not benefit from targeted drugs such as tamoxifen and Herceptin (trastuzumab).

Study co-author Dr Rachael Natrajan, from the Breakthrough Breast Cancer Research Centre at the ICR, said: “It is exciting to find new genes which could be involved in causing and driving breast cancer. Now these have been identified we have to do more work to find out the role that they play. Ultimately, this knowledge could help us develop new treatments that target the specific defects of each patient’s disease.”

The  study also included teams from the Institut Curie in France, the University Medical Center Utrecht in the Netherlands, The Cancer Research UK London Research Institute in London and the University of Nottingham.

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