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Cancer Sci. 2018 Mar;109(3):497-506. doi: 10.1111/cas.13463. Epub 2017 Dec 30.

Breast cancer: The translation of big genomic data to cancer precision medicine.

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Project for Development of Liquid Biopsy Diagnosis, Cancer Precision Medicine Center, Japanese Foundation for Cancer Research, Tokyo, Japan.
Department of Medicine, Center for Personalized Therapeutics, The University of Chicago, Chicago, IL, USA.
Department of Surgery, Center for Personalized Therapeutics, The University of Chicago, Chicago, IL, USA.


Cancer is a complex genetic disease that develops from the accumulation of genomic alterations in which germline variations predispose individuals to cancer and somatic alterations initiate and trigger the progression of cancer. For the past 2 decades, genomic research has advanced remarkably, evolving from single-gene to whole-genome screening by using genome-wide association study and next-generation sequencing that contributes to big genomic data. International collaborative efforts have contributed to curating these data to identify clinically significant alterations that could be used in clinical settings. Focusing on breast cancer, the present review summarizes the identification of genomic alterations with high-throughput screening as well as the use of genomic information in clinical trials that match cancer patients to therapies, which further leads to cancer precision medicine. Furthermore, cancer screening and monitoring were enhanced greatly by the use of liquid biopsies. With the growing data complexity and size, there is much anticipation in exploiting deep machine learning and artificial intelligence to curate integrative "-omics" data to refine the current medical practice to be applied in the near future.


breast cancer; clinical sequencing; genome-wide association study; liquid biopsy; next-generation sequencing

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