文章：

BRCA1和BRCA2: 1994年及以后

BRCA1 and BRCA2: 1994 and beyond

原文发布日期：2004-09-01

DOI: 10.1038/nrc1431

类型: Review Article

开放获取: 否

要点：

1. In the ten years since the discovery of BRCA1 and BRCA2, genetic testing for breast and ovarian cancer susceptibility has become integrated into the practice of clinical oncology.
2. Attempts to identify a third breast cancer susceptibility locus (BRCA3) have so far been unsuccessful. This is probably because no single gene can account for the remainder of families that show a high incidence of breast cancer that is not associated with BRCA1 or BRCA2.
3. In general, the genes that have been identified as being associated with hereditary breast cancer (BRCA1, BRCA2, TP53, CHK2 and ATM) are involved in the maintenance of genomic integrity and DNA repair.
4. The risk of developing cancer is not identical for all carriers of BRCA1 and BRCA2 mutations. Risk can be influenced by allelic heterogeneity, modifier genes, and environmental and hormonal cofactors.

要点翻译：

1. 在BRCA1和BRCA2基因发现后的十年间，乳腺癌和卵巢癌易感性的基因检测已融入临床肿瘤学实践。
2. 目前寻找第三个乳腺癌易感基因位点（BRCA3）的努力尚未成功。这很可能是因为没有单一基因能够解释那些显示高乳腺癌发病率、却与BRCA1或BRCA2无关的剩余家族病例。
3. 总体而言，已确认与遗传性乳腺癌相关的基因（BRCA1、BRCA2、TP53、CHK2和ATM）均参与维持基因组完整性和DNA修复。
4. 并非所有BRCA1和BRCA2突变携带者的患癌风险完全相同。风险可能受到等位基因异质性、修饰基因以及环境和激素协同因素的影响。

英文摘要：

The discovery of the first gene associated with hereditary breast cancer, BRCA1, was anticipated to greatly increase our understanding of both hereditary and sporadic forms of breast cancer, and to lead to therapeutic and preventive breakthroughs. Much has been learned during the past decade about the genetic epidemiology of breast cancer, the ethnic distribution and clinical consequences of BRCA1 and BRCA2 mutations, and the central role of DNA repair in breast cancer susceptibility. The ability to translate this knowledge into novel treatments, however, remains elusive.

摘要翻译： 

首个与遗传性乳腺癌相关基因BRCA1的发现，曾被寄予厚望能大幅增进我们对遗传性和散发性乳腺癌的认识，并带来治疗与预防上的突破。过去十年里，我们在乳腺癌的遗传流行病学、BRCA1和BRCA2突变的种族分布及临床后果，以及DNA修复在乳腺癌易感性中的核心作用等方面已收获颇丰；然而，如何将这些知识转化为新型治疗手段，依旧遥不可及。

原文链接：

BRCA1 and BRCA2: 1994 and beyond