Goldgar D E, Neuhausen S L, Steele L, Fields P, Ward J H, Tran T, Ngyuen K, Stratton M R, Easton D F
Department of Medical Informatics, University of Utah, Salt Lake City, USA.
J Natl Cancer Inst Monogr. 1995(17):15-9.
Interest in the genetics of breast cancer has intensified with the discovery of a breast cancer susceptibility locus, BRCA1, on chromosome 17q. In this paper, we describe updated information on a large breast cancer kindred (K107) that has been extensively studied since 1948. Specifically, we have identified many new cases of cancer in the family and have shown that this family is unlinked to BRCA1 as well as a number of other genes considered as candidates for breast cancer. In a collaborative study between the University of Utah and the Institute of Cancer Research in the United Kingdom, we have collected a set of families with a predisposition to breast and ovarian cancers that have been reliably excluded from linkage to BRCA1 and evaluated their usage in a genomic search for other breast cancer loci. This effort led to the discovery of a second breast cancer locus located on chromosome 13q, BRCA2, which is responsible for the increased incidence of breast cancer in Kindred 107.
随着17号染色体上乳腺癌易感基因座BRCA1的发现，对乳腺癌遗传学的关注日益增强。在本文中，我们描述了自1948年以来经过广泛研究的一个大型乳腺癌家系（K107）的最新信息。具体而言，我们在该家族中发现了许多新的癌症病例，并表明该家族与BRCA1以及其他一些被视为乳腺癌候选基因的基因没有连锁关系。在犹他大学和英国癌症研究所的一项合作研究中，我们收集了一组易患乳腺癌和卵巢癌的家系，这些家系已被可靠地排除与BRCA1的连锁关系，并评估了它们在基因组搜索其他乳腺癌基因座中的用途。这项工作导致发现了位于13号染色体上的第二个乳腺癌基因座BRCA2，它是导致107号家系乳腺癌发病率增加的原因。
