Identification of new mutations that contribute to breast cancer

大约十分之一的妇女患乳腺癌，因此是一个重大的健康问题。为了改善这种疾病的诊断、治疗和预后，了解导致疾病发生和发展的遗传缺陷至关重要。虽然已经确定了许多乳腺癌易感基因，但这些基因对乳腺癌易感性的贡献目前尚不清楚。这部分是由于当前诊断过程的局限性，以及对所有遗传因素的不完全了解，这些因素的破坏可能导致基因功能的丧失。这项提议旨在确定对一种重要的乳腺癌基因BRCA1的表达至关重要的调控途径。此外，它的目的是确定这些途径在乳腺癌患者中的地位，从而扩大我们对这种基因破坏对这种疾病的实际贡献的认识。它还旨在确定反式作用因子调节BRCA1表达的潜力，从而调节BRCA1通路的活性。这项研究的预期结果是提高对乳腺癌进行症状前诊断测试的能力，并最终开发出更有效的药物来治疗某些乳腺肿瘤。

Breast cancer affects approximately one in ten women and is therefore a major health problem. In order to improve the diagnosis, treatment and prognosis of this disease, it is critical to understand the genetic defects that contribute to disease initiation and progression. Although a number of breast cancer susceptibility genes have been identified, the contribution each of these genes makes to breast cancer susceptibility is currently unclear. This is partly due to limitations in current diagnostic processes and an incomplete understanding of all of the genetic elements for which disruption can lead to loss of gene function. This proposal aims to identify regulatory pathways that are critical for the expression of an important breast cancer gene called BRCA1. Furthermore, it aims to determine the status of these pathways in breast cancer patients, thus expanding our knowledge of the actual contribution that disruption of this gene makes to this disease. It also aims to determine the potential for trans-acting factors to regulate the expression of BRCA1 and thus activity of the BRCA1 pathway. The predicted outcome of this research is an improved ability to perform presymptomatic diagnostic testing for breast cancer and the ultimately the development of more effective drugs to treat certain breast tumours.