Lambros Maryou B K, Natrajan Rachael, Reis-Filho Jorge S
Molecular Pathology Laboratory, The Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, SW3 6JB London, UK.
Hum Pathol. 2007 Aug;38(8):1105-22. doi: 10.1016/j.humpath.2007.04.011.
Fluorescent (FISH) and chromogenic (CISH) in situ hybridization have recently become part of the diagnostic armamentarium of breast pathologists. HER2 gene testing by FISH and/or CISH has become an integral part of the diagnostic workup for patients with breast cancer. In this era of high throughput technologies, these techniques have proven instrumental for the validation of results from microarray-based comparative genomic hybridization and for the identification of novel oncogenes and tumor suppressor genes. Furthermore, FISH and CISH applied to tissue microarrays have expedited the characterization of genomic changes associated with specific breast cancer molecular subtypes and the identification of novel prognostic and predictive markers. In this review, we provide in this review a critical assessment of CISH and FISH and the impact of the analysis of amplification of specific oncogenes (eg, HER2, EGFR, MYC, CCND1, and FGFR1) and deletion of tumor suppressor genes (eg, BRCA1 and BRCA2) on our understanding of breast cancer.
荧光原位杂交（FISH）和显色原位杂交（CISH）最近已成为乳腺病理学家诊断工具的一部分。通过FISH和/或CISH进行的HER2基因检测已成为乳腺癌患者诊断检查的一个组成部分。在这个高通量技术的时代，这些技术已被证明有助于验证基于微阵列的比较基因组杂交结果以及鉴定新的癌基因和肿瘤抑制基因。此外，应用于组织微阵列的FISH和CISH加快了与特定乳腺癌分子亚型相关的基因组变化的特征描述以及新的预后和预测标志物的鉴定。在本综述中，我们对CISH和FISH以及特定癌基因（如HER2、EGFR、MYC、CCND1和FGFR1）扩增分析和肿瘤抑制基因（如BRCA1和BRCA2）缺失分析对我们理解乳腺癌的影响进行了批判性评估。
