Campeau Philippe M, Foulkes William D, Tischkowitz Marc D
Department of Medical Genetics, McGill University Health Centre, McGill University, Montreal, QC, Canada.
Hum Genet. 2008 Aug;124(1):31-42. doi: 10.1007/s00439-008-0529-1. Epub 2008 Jun 25.
Six genes confer a high risk for developing breast cancer (BRCA1/2, TP53, PTEN, STK11, CDH1). Both BRCA1 and BRCA2 have DNA repair functions, and BRCA1/2 deficient tumors are now being targeted by poly(ADP-ribose) polymerase inhibitors. Other genes conferring an increased risk for breast cancer include ATM, CHEK2, PALB2, BRIP1 and genome-wide association studies have identified lower penetrance alleles including FGFR2, a minor allele of which is associated with breast cancer. We review recent findings related to the function of some of these genes, and discuss how they can be targeted by various drugs. Gaining deeper insights in breast cancer susceptibility will improve our ability to identify those families at increased risk and permit the development of new and more specific therapeutic approaches.
六个基因会增加患乳腺癌的风险（BRCA1/2、TP53、PTEN、STK11、CDH1）。BRCA1和BRCA2都具有DNA修复功能，现在聚（ADP-核糖）聚合酶抑制剂正靶向作用于BRCA1/2缺陷型肿瘤。其他增加乳腺癌风险的基因包括ATM、CHEK2、PALB2、BRIP1，全基因组关联研究已经确定了低外显率等位基因，包括FGFR2，其一个次要等位基因与乳腺癌有关。我们综述了与其中一些基因功能相关的最新研究结果，并讨论了如何通过各种药物对其进行靶向作用。对乳腺癌易感性有更深入的了解将提高我们识别那些风险增加的家族的能力，并有助于开发新的、更具特异性的治疗方法。
