Division of Medical Oncology, Mayo Clinic, Rochester, MN 55905, USA.
J Hum Genet. 2013 Jun;58(6):306-12. doi: 10.1038/jhg.2013.35. Epub 2013 May 2.
The most important modality of treatment in the two-thirds of patients with an estrogen receptor (ER)-positive early breast cancer is endocrine therapy. In postmenopausal women, options include the selective ER modulators (SERMs), tamoxifen and raloxifene, and the 'third-generation' aromatase inhibitors (AIs), anastrozole, exemestane and letrozole. Under the auspices of the National Institutes of Health Global Alliance for Pharmacogenomics, Japan, the Mayo Clinic Pharmacogenomics Research Network Center and the RIKEN Center for Genomic Medicine have worked collaboratively to perform genome-wide association studies (GWAS) in women treated with both SERMs and AIs. On the basis of the results of the GWAS, scientists at the Mayo Clinic have proceeded with functional genomic laboratory studies. As will be seen in this review, this has led to new knowledge relating to endocrine biology that has provided a clear focus for further research to move toward truly personalized medicine for women with breast cancer.
在三分之二的雌激素受体 (ER) 阳性早期乳腺癌患者中，最重要的治疗方式是内分泌治疗。对于绝经后妇女，选择包括选择性雌激素受体调节剂 (SERM)，他莫昔芬和雷洛昔芬，以及“第三代”芳香酶抑制剂 (AI)，阿那曲唑、依西美坦和来曲唑。在美国国立卫生研究院全球药物基因组学联盟的支持下，日本 Mayo 诊所药物基因组学研究网络中心和 RIKEN 基因组医学中心合作开展了针对接受 SERM 和 AI 治疗的女性的全基因组关联研究 (GWAS)。基于 GWAS 的结果，Mayo 诊所的科学家们进行了功能基因组实验室研究。正如本综述中所见，这导致了与内分泌生物学相关的新知识，为进一步的研究提供了明确的重点，以朝着真正针对乳腺癌女性的个体化医学迈进。
