Chinnaiyan Arul M, Rubin Mark A
Department of Pathology and Urology, University of Michigan, Ann Arbor, Michigan, USA.
Adv Anat Pathol. 2002 Jan;9(1):1-6. doi: 10.1097/00125480-200201000-00001.
DNA microarray technology is revolutionizing the way fundamental biologic questions are addressed in the postgenomic era. In this study by Hedenfalk et al., the authors attempted to identify discrete gene expression profiles for patients with known hereditary breast cancers caused by mutations in BRCA1 and BRCA2, both of which increase the lifetime risk of developing breast cancer. The genome-wide perspective identified discrete sets of genes that discriminated between BRCA, BRCA2, and sporadic breast tumors. This commentary discusses some limitations of studying a small number of cases. The authors also address the need for validation on independent tumor sets, and the potential benefit of multivariable-type analyses to consider other potential confounding factors such as tumor grade, receptor status, tumor stage, and treatment information.
DNA微阵列技术正在彻底改变后基因组时代解决基本生物学问题的方式。在赫登法尔克等人的这项研究中，作者试图为已知由BRCA1和BRCA2突变引起的遗传性乳腺癌患者确定离散的基因表达谱，这两种突变都会增加患乳腺癌的终生风险。全基因组视角确定了区分BRCA、BRCA2和散发性乳腺肿瘤的离散基因集。本评论讨论了研究少量病例的一些局限性。作者还提到了在独立肿瘤集上进行验证的必要性，以及多变量类型分析在考虑其他潜在混杂因素（如肿瘤分级、受体状态、肿瘤分期和治疗信息）方面的潜在益处。
