Background

Genomic abnormalities in breast cancer have been described according to diverse conceptual frameworks, including histologic subtypes, clinical molecular subtypes, intrinsic DNA, RNA, and epigenetic profiles, and activated molecular pathways.

Methods

The Cancer Genomics Consortium (CGC) Breast Cancer Workgroup performed an evidence based literature review to summarize current knowledge of clinically significant genomic alterations in breast cancer using CGC levels of evidence. Targetable or disease-defining alterations were prioritized.

Results

We summarized genomic alterations in breast cancer within a framework of existing clinical tools for diagnosis, risk stratification, and therapeutic management. Using CGC levels of evidence, we catalog copy number profiles, gene expression profiles, and mutations in clinically significant genes. We also describe emerging molecular markers such as methylation profiling and immunotherapy biomarkers.

Conclusion

A summary of currently available information on breast cancer genomics will enhance precision medicine by serving as an interpretive resource for clinical laboratory geneticists, providing a foundation for future practice guidelines, and identifying knowledge gaps to address in future research.

中文翻译：

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乳腺癌基因组学的当前概念：CGC乳腺癌工作组的循证审查。

背景

已经根据各种概念框架描述了乳腺癌中的基因组异常，包括组织学亚型，临床分子亚型，内在DNA，RNA和表观遗传学特征以及激活的分子途径。

方法

癌症基因组学协会（CGC）乳腺癌工作组进行了基于证据的文献综述，以使用CGC的证据水平总结了乳腺癌临床上重要的基因组改变的当前知识。有针对性的或确定疾病的改变被优先考虑。

结果

我们在诊断，风险分层和治疗管理的现有临床工具的框架内总结了乳腺癌的基因组改变。使用CGC证据水平，我们对拷贝数概况，基因表达概况和具有临床意义的基因中的突变进行分类。我们还描述了新兴的分子标记，例如甲基化分析和免疫疗法生物标记。

结论

关于乳腺癌基因组学的当前可用信息的摘要将通过充当临床实验室遗传学家的解释性资源，为将来的实践指南提供基础并确定需要在将来的研究中解决的知识空白，来提高精密医学的水平。