Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing
Guan‐Tian LangYi‐Zhou JiangJinxiu ShiFan YangXiaoguang LiYu-Chen PeiChenhui ZhangDing MaYi XiaoPeng-Chen HuHai WangYun‐Song YangLin‐Wei GuoXun‐Xi LuMengzhu XuePeng WangA‐Yong CaoHong LingZhonghua WangKe‐Da YuGen‐Hong DiDa‐Qiang LiYun-Jin WangYing YuLeming ShiXin HuWei HuangZhi‐Ming Shao
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Abstract The remarkable advances in next-generation sequencing technology have enabled the wide usage of sequencing as a clinical tool. To promote the advance of precision oncology for breast cancer in China, here we report a large-scale prospective clinical sequencing program using the Fudan-BC panel, and comprehensively analyze the clinical and genomic characteristics of Chinese breast cancer. The mutational landscape of 1,134 breast cancers reveals that the most significant differences between Chinese and Western patients occurred in the hormone receptor positive, human epidermal growth factor receptor 2 negative breast cancer subtype. Mutations in p53 and Hippo signaling pathways are more prevalent, and 2 mutually exclusive and 9 co-occurring patterns exist among 9 oncogenic pathways in our cohort. Further preclinical investigation partially suggests that NF2 loss-of-function mutations can be sensitive to a Hippo-targeted strategy. We establish a public database (Fudan Portal) and a precision medicine knowledge base for data exchange and interpretation. Collectively, our study presents a leading approach to Chinese precision oncology treatment and reveals potentially actionable mutations in breast cancer.Keywords:
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Personalized medicine, precision medicine, and precision health as approaches to healthcare that emphasize tailoring treatments to an individual's unique biological, behavioral, and environmental factors. These terms are sometimes used interchangeably, but personalized medicine is considered broader than precision medicine, encompassing a wide range of health factors. Precision medicine specifically focuses on genomic and physiological biomarkers. These approaches aim to prevent, diagnose, and treat diseases within the healthcare system. Precision health represents a broader framework that includes public health and consumer health management. The chapter highlights the principles and advancements of personalized and precision medicine, the shift from a "one size fits all" paradigm to individualized patient identification, diagnosis, and treatment, leveraging genomics and molecular diagnosis. The goal is to maximize therapeutic efficacy while reducing the risk of drug toxicity. The study emphasizes the potential of personalized medicine to improve target selectivity of drugs, enhance clinical trial success, and develop personalized treatment strategies. Additionally, the chapter mentions the application of personalized medicine and challenges faced during data collection, medicine development, and clinical trials. Overall, personalized medicine offers a promising approach for better healthcare, focusing on prevention, prediction, and treatment tailored to individual needs based on their genomic makeup and other factors. The emergence of genomics and translational genetics has provided powerful tools for clinical diagnosis, disease prediction, high throughput screening, and the development of personalized therapies and vaccines.
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In today's ever-evolving medical landscape, the groundbreaking concept of precision medicine is revolutionizing the way we approach healthcare. By focusing on the unique characteristics of each patient, precision medicine aims to deliver personalized and targeted treatments that can provide superior outcomes. This personalized healthcare breakthrough has the potential to transform the medical field, ushering in a new era of tailored and effective treatments. Traditional medicine has been largely empirical, where physicians rely on patterns and past experience to diagnose and treat patients. Treatment decisions are often made based on the physician's familiarity with similar cases. In this approach, a single treatment or medication may be prescribed for a
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Cancer is one of the major causes of death by disease and treatment of cancer is one of the most crucial phases of oncology. Precision medicine for cancer treatment is an approach that uses the genetic profile of individual patients. Researchers have not yet discovered all the genetic changes that causes cancer to develop, grow and spread. The Neuro-Genetic model is proposed here for the prediction and recommendation of precision medicine. The proposed work attempts to recommend precision medicine to cancer patients based upon the past genomic data of patient’s survival. The work will employ machine learning (ML) approaches to provide recommendations for different gene expressions. This work can be used in caner hospitals, research institutions for providing personalized treatment to the patient using precision medicine. Precision medicine can even be used to treat other complex diseases like diabetes, dentistry, cardiovascular diseases etc. Precision medicine is the kind of treatment to be offered in the near future.
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Targeted therapy is the foundation of personalized medicine in cancer, which is often understood as the right patient using the right drug. Thinking from the viewpoint of determinants during personalized drug treatment, the genetics, epigenetics and metagenomics would provide individual-specific biological elements to characterize the personalized responses for therapy.Such personalized determinants should be not only understood as specific to one person, while they should have certain replicate observations in a group of individuals but not all, which actually provide more credible and reproducible personalized biological features. The requirement of detecting personalized determinants is well supported by novel high-throughput sequencing technologies and newly temporal-spatial experimental protocols, which quickly produce the omics big data.In this mini-review, we would like to give a brief introduction firstly on the advanced drug or drug-like therapy with genetics, epigenetics and metagenomics, respectively, from the viewpoint of personalized determinants; then summarize the computational methods helpful to analyze the corresponding omics data under the consideration of personalized biological context; and particularly focus on metagenomics to discuss current data, method, and opportunity for personalized medicine.Totally, detecting personalized determinants during drug treatment from omics big data will bring the precision medicine or personalized medicine from concept to application. More and more inspiring biotechnologies, data resources, and analytic approaches will benefit All of US in the near future.
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In the era of advanced biotechnology and genomics, precision medicine has emerged as a transformative approach to healthcare. This paper explores the concept of precision medicine, with a particular focus on its application in tailoring treatments for individuals based on their genomic profiles. By leveraging cutting-edge technologies such as genome sequencing and personalized therapies, precision medicine holds immense promise for improving outcomes in a wide range of diseases. In this 10,000-word paper, we delve into the principles, challenges, and potential of precision medicine in the context of Type 2 Diabetes (T2D) as a prominent example. We also discuss the ethical and societal implications of implementing precision medicine and the need for broader integration into healthcare systems.
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Precision medicine can be defined as personalized medicine enhanced by technology. In the past, medicine has, in some cases, been personalized. For example, some drugs are dosed on an individualized basis based on age, body-mass index, comorbidities and other clinical parameters. However, overall, medicine has largely followed the ‘one-size-fits-all' paradigm as exemplified in the treatment of essential hypertension or type 2 diabetes mellitus. What has changed in the past few years is that technologies such as high throughput sequencing, mass spectrometry, microfluidics, and imaging can help conduct a multitude of complex measurements on clinical samples. Aided by analytics, these technologies have been providing an increasingly detailed picture of molecular and cellular alterations underlying numerous diseases and have revealed tremendous variability between individuals and patients at the molecular and cellular level. These findings have motivated a more personalized or ‘precision' approach to medicine, in which molecular and cellular markers help tailor patient management to each individual. Here we provide an overview of the key factors driving adoption of precision medicine and highlight current research that may soon make precision medicine more predictive.
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“Personalized medicine” and the related concepts of “precision medicine” and “precision health” refer to the idea that healthcare approaches should not be one‐size‐fits‐all but instead tailored to a person's unique biological, behavioral, and environmental factors. A central focus of personalized medicine is genomic testing to generate more accurate disease risk profiles and to guide gene‐targeted therapies (i.e., pharmacogenomics). Personalized medicine also relies on individuals' digital health engagement and on healthcare informatics to generate personalized guidance. Health communication scholars have an important role to play in the success of personalized medicine. From research to clinical implementation, effective communication is key to enabling and implementing the discoveries that support a personalized approach to health. Important areas for communication research include research participant recruitment, digital health engagement and bioinformatics, conveying complex health information to patients and consumers, and the portrayal of personalized medicine in the media.
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Purpose of review The purpose of this study is to understand the approach to precision medicine and personalized medicine in the management of allergic airway disease. Recent findings Identification of biomarkers as key tools used in precision medicine has led to the development of multiple biologic drugs being used as new treatments for allergic airway disease. Summary In addition to these advances, there is still much needed effort to improve the feasibility and utility of integrating biologic omics data of precision medicine with physicochemical, behavioral, psychological, and social data to deliver optimized treatments that is personalized for each individual.
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