School researchers help to identify new breast cancer gene variant

The London School of Hygiene & Tropical Medicine is part of an international collaborative research group, the Breast Cancer Association Consortium (BCAC), which has confirmed a common gene associated with breast cancer.

The discovery of a variant of the Caspase 8 gene, which affects breast cancer risk, will help scientists to better understand the genetic pathways involved in breast cancer, and develop more effective treatments for the disease.

Everyone has the Caspase 8 gene, but different people have different forms of it, known as variants. This study, published in Nature Genetics, reveals that around a quarter of European women carry a variant of Caspase 8 which reduces their risk of breast cancer by around 10%. Women with the Caspase variant gene have a lower lifetime risk - around one in ten - of developing the disease, compared to the UK average lifetime risk of one in nine.

Dr Isabel dos Santos Silva, Reader in Epidemiology at the London School of Hygiene & Tropical Medicine and one of the authors of the study, comments: 'The first breast cancer genetic variants, BRCA1 and BRCA2, were identified more than ten years ago. Research efforts to identify more common genetic variants that confer only modest effects on breast cancer risk have been largely unsuccessful, mainly because reliable detection of such small effects requires the study of several thousands of affected and disease-free women. This Nature Genetics report clearly illustrates the benefits of large international collaborations such as the Breast Cancer Association Consortium'.

THE BCAC includes more than twenty collaborating research groups worldwide. UK-based groups include: The British Breast Cancer (BCC) Study (London School of Hygiene & Tropical Medicine, The Breakthrough Breast Cancer Research Centre and the Institute of Cancer Research); the Sheffield Breast Cancer Study Group (University of Sheffield); Studies of Epidemiology and Risk Factors in Cancer Heredity (SEARCH, University of Cambridge); and the Institute of Cancer Research Familial Breast Cancer Study (ICR-FBCS).

The British Breast Cancer (BCC) Study and the BCAC are funded by Cancer Research UK. The BCAC was established in 2005 and is co-ordinated by Dr. P Pharaoh and Professor D. Easton from the University of Cambridge. This study was led by Dr. A Cox from the University of Sheffield.

Notes: A common coding variant in CASP8 is associated with breast cancer risk. Once the paper has been published electronically, it can be retrieved at:

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