Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Chuo-ku, Niigata, Niigata, 951-8510, Japan.
Breast Surgery, Department of Surgical Oncology, Roswell Park Comprehensive Cancer Center, Elm and Carlton Streets, Buffalo, NY, 14263, USA.
Int J Clin Oncol. 2019 Feb;24(2):131-140. doi: 10.1007/s10147-018-1373-5. Epub 2019 Jan 2.
Precision medicine can be defined as the customization of medical treatment based on the individual genetic profile, which enables one to identify patients who respond to therapies while sparing side effects for those who do not. Breast cancer patients have been treated based on subtyping, which is considered a prototype of precision medicine. Furthermore, the development of multigene panel testing has resulted in a paradigm shift in the treatment of breast cancer. The knowledge generated from the Human Genome Project, and subsequently The Cancer Genome Atlas, has provided the concept of precision medicine, in which cancer patients can be sub-classified based on actionable driver mutations that can be selectively targeted by molecular targeted drugs and treated by appropriate molecular targeted therapies. Development of next-generation sequencing has both dramatically advanced genomic sequencing technology and revealed actionable driver mutations for individual cancer patients when applied to a clinical setting. Clinical target sequencing by next-generation sequencing enables one to formulate treatment strategies, not only by selecting a subgroup of patients who are expected to experience more effectiveness of each drug, but also by revealing patients with drug resistance based on their actionable driver mutations.
精准医学可以定义为根据个体的基因谱定制医疗方案，从而能够识别出对治疗有反应的患者，同时避免对无反应的患者产生副作用。乳腺癌患者已经根据亚型进行了治疗，这被认为是精准医学的原型。此外，多基因面板检测的发展导致了乳腺癌治疗的范式转变。人类基因组计划以及随后的癌症基因组图谱所产生的知识提供了精准医学的概念，根据可操作的驱动突变，癌症患者可以根据分子靶向药物的选择性靶向进行分类，并进行适当的分子靶向治疗。下一代测序的发展不仅极大地推进了基因组测序技术，而且在应用于临床环境时，揭示了个别癌症患者的可操作驱动突变。下一代测序的临床靶标测序不仅可以通过选择预计每种药物更有效的患者亚组来制定治疗策略，还可以根据其可操作的驱动突变揭示耐药患者。
