Hamann U
Deutsches Krebsforschungszentrum, Heidelberg, Germany.
Clin Lab. 2000;46(9-10):447-61.
About one in eight to ten women living in Western countries will develop breast cancer during her lifetime and between 5-10% of these cases result from an inherited susceptibility to the disease. Within the past few years, a number of genes associated with a high risk of breast cancer have been identified, including BRCA1, BRCA2, TP53, PTEN, MLH1, MSH2, and STK11. The identification of these genes, together with the rapid advances in molecular genetic analyses, should improve the diagnosis and therapy of breast cancer. This article reviews the genetic basis of hereditary breast cancer, in particular the contribution of BRCA1 and BRCA2 and discusses the clinical application of this new molecular knowledge with regard to molecular testing, surveillance and prevention in women with a hereditary predisposition to breast cancer.
在西方国家，约八分之一至十分之一的女性在其一生中会患乳腺癌，其中5%-10%的病例是由遗传易感性导致的。在过去几年里，已经鉴定出一些与乳腺癌高风险相关的基因，包括BRCA1、BRCA2、TP53、PTEN、MLH1、MSH2和STK11。这些基因的鉴定以及分子遗传学分析的快速进展，应能改善乳腺癌的诊断和治疗。本文综述了遗传性乳腺癌的遗传基础，特别是BRCA1和BRCA2的作用，并讨论了这一新的分子知识在乳腺癌遗传易感性女性的分子检测、监测和预防方面的临床应用。
