HIGH RISK BREAST CANCER CLINIC

高风险乳腺癌诊所（HRBCC）是乳腺癌研究合作家庭登记处的六个站点之一，该登记处是通过NCI的合作协议资助的。该项目的主要目标是收集具有强烈乳腺癌和/或卵巢癌家族史的个体的系谱信息、流行病学数据和生物样本。最终目标是确定乳腺癌高危人群，这些人可以参加化学预防试验和其他研究。犹他州HRBCC目前已经招收了来自178个家庭的521人。DNA、血浆和淋巴母细胞系已经建立。大多数受试者已经进行了BRCA1和BRCA2突变的基因分型。在迄今分析的33个家谱中，78个人发现这两个基因中的一个有家族突变。已经发现了一些新的突变（缺失和点突变）。在47个家族中没有发现突变，来自这些家谱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.