Identification of critical regulatory elements in the BRCA1 gene

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进展的分子缺陷是至关重要的。过去二十年来，在这方面取得了重大进展，但仍有相当多的问题没有得到解答。例如，目前还不清楚这些基因的具体作用。这在很大程度上是由于当前突变检测策略的局限性，以及对所有遗传元件的不完全理解，这些遗传元件的破坏可能导致基因功能的丧失。这项提议的目的是确定所有重要的乳腺癌基因BRCA1表达的关键遗传因素。此外，它的目的是确定这些元素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。

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 molecular defects that contribute to disease initiation and progression. Over the last twenty years significant progress has been made in this regard, however there still remain a considerable number of unanswered questions. For example, it is not yet clear precisely what contribution each of these genes makes. This is largely due to limitations in current mutation detection strategies and an incomplete understanding of all of the genetic elements for which disruption can lead to loss of gene function. This propsal aims to identify all of the genetic elements critical for the expression of an important breast cancer gene called BRCA1. Furthermore, it aims to determine the status of these elements in breast cancer patients, thus expanding our knowledge of the actual contribution disruption of this gene makes to this disease.