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Cutting edge methodology
P1-64 Novel genetic risk variants for breast cancer: from discovery to disease prevention
  1. W Zheng
  1. Vanderbilt University, School of Medicine, Nashville, Tennessee, USA


Breast cancer is the most common malignancy among women in many parts of the world. Genetic factors play an important role in the aetiology of this common malignancy. Recent genome-wide association studies (GWAS) have identified multiple genetic susceptibility loci for breast cancer. Most of the GWAS, however, were conducted among women of European ancestry. It is unclear whether genetic risk variants identified in Europeans may also be associated with breast cancer risk in Asians. Furthermore, genetic factors identified to date explain only a small fraction of heritability for breast cancer, and thus many genetic susceptibility loci remain to be discovered. In 2008 we established the Asia Breast Cancer Consortium to search for genetic risk variants for breast cancer. The consortium now consists of over 15 000 breast cancer cases and an equal number of controls who were recruited from 12 studies conducted among Chinese, Korean, and Japanese women. Using a multi-stage study design, we have identified several novel genetic risk variants for breast cancer, including those located at chromosome 6q25 and 16q12. We also have systematically evaluated GWAS-reported genetic risk variants in Chinese and established a risk prediction model that incorporates information from both traditional clinical predictors and genetic risk markers. Results from the Asia Breast Cancer Consortium demonstrate the value of conducting genetic studies in non-European populations to identify novel genetic factors for breast cancer.

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