HIGH RISK BREAST CANCER CLINIC

高风险乳腺癌诊所(HRBCC)是由乳腺癌研究合作家庭登记处组成的六个地点之一，该登记处由国家癌症研究所的一项合作协议资助。该项目的主要目标是收集有乳腺癌和/或卵巢癌家族史的个人的系谱信息、流行病学数据和生物样本。最终目标是确定可以参加化学预防试验和其他研究的乳腺癌高危人群。犹他州HRBCC目前已经招收了来自178个家庭的521名个人。已经为ALL建立了DNA、血浆和淋巴母细胞系。大多数受试者都进行了BRCA1和BRCA2突变的基因分型。到目前为止，在分析的33个家系中，有78个人被发现有这两个基因之一的家族突变。已经确定了几个新的突变(缺失和点突变)。在47个家系中，没有发现突变，这些家系的材料将有助于识别新的乳腺癌基因。

The high risk breast cancer clinic (HRBCC) is one of six sites comprising the Cooperative Family Registry for Breast Cancer Studies which is funded through a cooperative agreement from the NCI. The primary objective of this project is to collect pedigree information, epidemiologic data, and biological samples from individuals with a strong family history of breast and/or ovarian cancer. The ultimate objective is to identify population at high risk for breast cancer who could be enrolled in chemoprevention trials and other studies. The Utah HRBCC has currently enrolled 521 individuals from 178 families. DNA, plasma, and lymphoblast cell lines have been established for all. Most subjects have been genotyped for BRCA1 and BRCA2 mutations. In 33 pedigrees so far analyzed, 78 individuals have been found to have familial mutations of one of these two genes. Several new mutations (deletions and point mutations) have been identified. In 47 families no mutations could be identified and materials from these pedigrees will be useful in identifying new breast cancer genes.