OPEN ACCESS ON-LINE BREAST CANCER MUTATION DATABASE

描述（申请人的描述-编辑）最近的识别 乳腺癌易感基因的突变提供了 这是一个令人兴奋的机会，可以帮助识别处于高风险的女性， 患上乳腺癌 一个严重的障碍，以实现 该信息的临床益处是由于 发现和评估突变的重要性的困难， 这些新的易感基因当务之急是 对这些突变的解释是协调的， 信息提供给尽可能多的合格调查人员， 可能我们认为建立和维持一个中央 关于突变和多态性的信息库。我们 我也认为提供信息至关重要， 进行许多不同技术所必需的协议和引物 用于检测此类突变。当BRCA 1基因最后一次被克隆时， 10月，启动了一个指导委员会，以帮助协调 建立乳腺癌信息核心（BIC）， 作为这样一个中央仓库。 我们选择了最容易接近的 格式的BIC，一个FTP网站在网上，这将是访问 通过提供给遵守一套准则的成员的密码。 所要求的资金是帮助建立和维护这个FTP网站 这将为信息提供一个中央存储库 上面提到的。 这样的信息获取方式， 研究人员有共同的工具来分析基因， BRCA 1、BRCA 2和AT。 这种访问将 大大提高了帮助识别和解释 这些遗传信息的重要性。

DESCRIPTION (Applicant's Description-edited) The recent identification of mutations in breast cancer susceptibility genes has provided the exciting opportunity to help identify women who are at high risk to develop breast cancer. One of the serious impediments to achieving the clinical benefits from this information is due to the difficulty in finding and assessing the significance of mutations in these new susceptibility genes. It is imperative that the detection and interpretation of these mutations is coordinated and this information is made available to as many qualified investigators as possible. We consider it important to create and maintain a central repository for information regarding mutations and polymorphisms. We also think it critical to make available the information, both protocols and primers, necessary to carry out many different techniques for detection of such mutations. When the BRCA1 gene was cloned last October, a Steering Committee was initiated to help coordinate the formation of a Breast Cancer Information Core (BIC) that could act as such a central repository. We have chosen the most accessible format for the BIC, an FTP site on the Web which would be accessible by a password provided to members who abide by a set of Guidelines. The funds requested are to help set up and maintain this FTP site that will provide a central repository for the information mentioned above. Such access to information should allow many investigators to have common tools by which to analyze genes such as BRCA1, BRCA2, and AT as they are identified. This access will greatly enhance the ability to help identify and interpret the importance of this genetic information.