Major technological advances and their popularization in the genomics, the bio-microarray, the next generation sequencing, the big data and the cloud computing, the artificial intelligence, the bio-pharmaceutical engineering make the precision medicine, especially, the precision medicine in curing the cancer step into a stage of exponential growth. Acquiring, analyzing and understanding the personal cancer genomics are the key in the process from the drug discovery to the novel designs of clinical trials, which also shows the critical importance of robust molecular diagnostics platforms. This paper gives an overview of the concept, the significance, the history, the techniques, the challenges and the prospects of the precision cancer medicine, as well as the applications of the precision medicine in the gliomas and colorectal cancer.
[1] National Research Council:Committee on a Framework for Developing a New Taxonomy of Disease. Toward precision medicine:Building a knowledge net-work for biomedical research and a new taxonomy of disease[R]. Washington DC:National Academies Press, 2011.
[2] The White House. The precision medicine initiative[EB/OL].[2016-08-27]. https://www.whitehouse.gov/precision-medicine.
[3] Collins F S, Varmus H. A new initiative on precision medicine[J]. The New England Journal of Medicine, 2015, 372(9):793-795.
[4] The catalogue of somatic mutations in cancer[DB].[2016-08-27]. http://cancer.sanger.ac.uk/cosmic.
[5] The cancer genome atlas[DB].[2016-08-27]. https://tcgadata.nci.nih.gov/tcga.
[6] The cancer genome atlas[DB].[2016-08-27]. https://tcga-data.nci.nih.gov/docs/publications/tcga/?.
[7] International Cancer Genome Consortium. ICGC cancer genome project[EB/OL].[2016-08-27]. https://icgc.org/files/ICGC%20Brochure%20International%20December%202015%20v1%20-%20outer.jpg.
[8] Yan H, Parsons D W, Jin G L, et al. IDH1 and IDH2 mutations in gliomas[J]. The New England Journal of Medicine, 2009, 360(8):765-773.
[9] Killela P J, Reitman Z J, Jiao Y C, et al. TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal[J]. PNAS, 2013, 110(15):6021-6026.
[10] Zhang L, Chen L H, Wan H, et al. Exome sequencing identifies somatic gain-of-function PPM1D mutations in brainstem gliomas[J]. Nature Genetics, 2014, 46(7):726-730.
[11] National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology:Central nervous system cancers, V.2.2014[EB/OL].[2016-08-27]. https://www.nccn.org/professionals/physician_gls/pdf/cns.pdf.
[12] Jiang T, Mao Y, Ma W, et al. CGCG clinical practice guidelines for the management of adult diffuse gliomas[J]. Cancer Letters, 2016, 375(2):263-273.
[13] Le D T, Uram J N, Wang H, et al. PD-1 blockade in tumors with mismatch-repair deficiency[J]. The New England Journal of Medicine, 2015, 372(26):2509-2520.
[14] Dressman D, Yan H, Traverso G, et al. Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations[J]. PNAS, 2003, 100(15):8817-8822.
[15] Tie J, Kinde I, Wang Y, et al. Circulating tumor DNA as an early marker of therapeutic response in patients with metastatic colorectal cancer[J]. Annals of Oncology Official Journal of the European Society for Medical Oncology, 2015, 26(8):1715.
[16] Tie J, Wang Y X, Tomasetti C, et al. Circulating tumor DNA analysis detects minimal residual disease and predicts recurrence in patients with stage Ⅱ colon cancer[J]. Science Translational Medicine, 2016, 8:346.
[17] Frattini V, Trifonov V, Chan J M, et al. The integrated landscape of driver genomic alterations in glioblastoma[J]. Nature Genetics, 2013, 45(10):1141-1149.
[18] Pritchard C C, Mateo J, Walsh M F, et al. Inherited DNA-repair gene mutations in men with metastatic prostate cancer[J]. The New England Journal of Medicine, 2016, 375(5):443-453.
[19] Illumina. Whole-genome sequencing power[EB/OL].[2016-08-27]. http://www.illumina.com/systems/hiseq-x-sequencing-system.html.
