科学家们已经确定出新乳腺癌基因，它们能改变疾病诊断方法，构成新一代治疗方法的基础。这些科学家来自加拿大BC癌症研究机构和英国哥伦比亚大学。这是目前开展过的最大规模的全球性乳腺癌组织的研究，科学家对2000份肿块样本进行了DNA和RNA分析，这些样本取自5至10年前被诊断为乳腺癌的女性，可谓达到了该疾病数十年研究的最高点。相关研究结果发表在Nature上。
研究人员根据肿块的遗传指纹图谱，已将乳腺癌重新分类，分成10个全新类别。许多这些基因能提供乳腺癌生物学的急需见解，使医生能对如下情况作出预测：肿块是否对特定治疗方法响应，是否可能扩散到身体其他部位，或是否可能随着治疗而复发。这个信息将来可被医生用于更好地制定个体化治疗方案。其里程碑意义表现在：
用存活关联的普通遗传特征将乳腺癌划分为10个亚型。这种新分类可能改变制定乳腺癌女性药物治疗的方法。
发现几个以前与乳腺无关联的全新基因。这些驱动疾病的基因是新药物的靶标。该信息可被全球科学家用来推进药物发现与开发。
揭示了这些基因与已知细胞信号通路之间的关系，其中已知细胞信号通路就是控制细胞生长与分化的网状系统。通过破坏重要的细胞过程，它能指明这些基因故障如何引起癌症。
它是BC癌症研究机构这几周内宣布的第二个重大突破。4月4日，Sam Aparicio博士领导一个研究团队刚刚庆祝了解码三阴性乳腺癌基因构成，这是一种致命性最强的乳腺癌。类似于那个公告，今天的新发现鉴定了一些基因，它们是先前未知的、与乳腺癌相关的基因，并清楚地指出乳腺癌真正是一个大量独特疾病的总称。
尽管该研究不可能使当前患病的女性受益，但它大大推动了科学家们如何实现深入研究和临床试验，为他们提供了一个开发新治疗方案和针对特定基因药物的跳板。（生物谷bioon.com）
doi:10.1038/nature10983
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The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups
Christina Curtis, Sohrab P. Shah, Suet-Feung Chin, Gulisa Turashvili, Oscar M. Rueda, Mark J. Dunning, Doug Speed, Andy G. Lynch, Shamith Samarajiwa, Yinyin Yuan, Stefan Gr?f, Gavin Ha,Gholamreza Haffari, Ali Bashashati, Roslin Russell, Steven McKinney, METABRIC Group, Anita Langer?d, Andrew Green, Elena Provenzano, Gordon Wishart, Sarah Pinder, Peter Watson,Florian Markowetz, Leigh Murphy et al.
The elucidation of breast cancer subgroups and their molecular drivers requires integrated views of the genome and transcriptome from representative numbers of patients. We present an integrated analysis of copy number and gene expression in a discovery and validation set of 997 and 995 primary breast tumours, respectively, with long-term clinical follow-up. Inherited variants (copy number variants and single nucleotide polymorphisms) and acquired somatic copy number aberrations (CNAs) were associated with expression in ~40% of genes, with the landscape dominated by cis- and trans-acting CNAs. By delineating expression outlier genes driven in cis by CNAs, we identified putative cancer genes, including deletions in PPP2R2A, MTAP and MAP2K4. Unsupervised analysis of paired DNA-RNA profiles revealed novel subgroups with distinct clinical outcomes, which reproduced in the validation cohort. These include a high-risk, oestrogen-receptor-positive 11q13/14 cis-acting subgroup and a favourable prognosis subgroup devoid of CNAs. Trans-acting aberration hotspots were found to modulate subgroup-specific gene networks, including a TCR deletion-mediated adaptive immune response in the 'CNA-devoid' subgroup and a basal-specific chromosome 5 deletion-associated mitotic network. Our results provide a novel molecular stratification of the breast cancer population, derived from the impact of somatic CNAs on the transcriptome.
