A Multi-Center Epidemiologic Study of Breast Cancer In African American Women

乳腺癌是妇女中最常见的癌症，也是癌症死亡的第二大原因。目前在美国，包括田纳西州和南卡罗来纳州，非裔美国人的乳腺癌死亡率远远高于白人。我们对乳腺癌的病因知之甚少，也不知道哪些因素可以解释为什么非裔美国女性比白人女性更容易被诊断出患有侵袭性疾病。最近的全基因组关联研究（GWAS）为研究乳腺癌病因提供了机会。在中国和欧洲血统女性的GWAS中发现了大约20个易感位点。最近的报告发现，随着这些基因座数量的增加，白人和中国女性患乳腺癌的风险持续增加。在这个项目的三年中，我们预计将通过GWAS确定另外15至20个乳腺癌易感位点，包括我们在亚洲女性中进行的研究。这些基因座与非裔美国妇女的相关性仍未得到充分的研究，我们最近的试点调查数据显示，大多数最初报告的遗传风险变异被发现于

Breast cancer, the most frequently diagnosed cancer among women, is the second leading cause of cancer death. Current breast cancer mortality rates in the United States, including Tennessee and South Carolina are considerably higher among African Americans than among Caucasians. Little is understood about the etiology of breast cancer nor do we know what factors might explain why African American women tend to be diagnosed with more aggressive disease than Caucasian women. Recent genome-wide association studies (GWAS) have opened opportunities to investigate breast cancer etiology. Approximately 20 susceptibility loci have been identified from the GWAS conducted among women of Chinese and European ancestry. Recent reports found breast cancer risk consistently increased among Caucasian and Chinese women with an increasing number of some of these loci. During the three years of this proposed project we anticipate an additional 15 to 20 susceptibility loci for breast cancer will be identified through GWAS, including our study conducted among Asian women. The relevance of these loci to African American women remains under-investigated, and data from our recent pilot investigation have showed that the majority of the initially-reported genetic risk variants identified in Caucasian and Chinese cannot be directly replicated among African Americans. As a full project under the Cancer Outreach Core, the purpose of this proposed project is to investigate approximately 21 GWAS-identified loci to discover genetic risk variants relevant for African American women. In addifion, we will establish a breast cancer risk assessment model that incorporates clinical and genetic factors to better identify high-risk African American women since the only existing breast cancer risk assessment model for African Americans does not include genetic markers.