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Precision medicine review

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https://www.readbyqxmd.com/read/29240602/unclassified-variants-of-brca1-and-brca2-in-korean-patients-with-ovarian-cancer
#1
Min Chul Choi, Ja-Hyun Jang, Sang Geun Jung, Hyun Park, Won Duk Joo, Seung Hun Song, Chan Lee, Je Ho Lee
OBJECTIVE: The aim of the present study was to investigate unclassified variants (UVs) in BRCA1 and 2 of Korean patients with ovarian cancer. METHODS: We retrospectively analyzed 138 patients diagnosed with ovarian/fallopian tubal/peritoneal cancer between January 2013 and January 2016, whose BRCA genetic test results and clinical characteristics were available for review. Patient peripheral blood lymphocyte specimens were assessed for BRCA mutations and variations by direct sequencing...
December 13, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/29240076/from-public-health-genomics-to-precision-public-health-a-20-year-journey
#2
REVIEW
Muin J Khoury, M Scott Bowen, Mindy Clyne, W David Dotson, Marta L Gwinn, Ridgely Fisk Green, Katherine Kolor, Juan L Rodriguez, Anja Wulf, Wei Yu
In this paper, we review the evolution of the field of public health genomics in the United States in the past two decades. Public health genomics focuses on effective and responsible translation of genomic science into population health benefits. We discuss the relationship of the field to the core public health functions and essential services, review its evidentiary foundation, and provide examples of current US public health priorities and applications. We cite examples of publications to illustrate how Genetics in Medicine reflected the evolution of the field...
December 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29238064/role-of-titin-in-cardiomyopathy-from-dna-variants-to-patient-stratification
#3
REVIEW
James S Ware, Stuart A Cook
Dilated cardiomyopathy (DCM) affects approximately 1 in 250 individuals and is the leading indication for heart transplantation. DCM is often familial, and the most common genetic predisposition is a truncating variation in the giant sarcomeric protein, titin, which occurs in up to 15% of ambulant patients with DCM and 25% of end-stage or familial cases. In this article, we review the evidence for the role of titin truncation in the pathogenesis of DCM and our understanding of the molecular mechanisms and pathophysiological consequences of variation in the gene encoding titin (TTN)...
December 14, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/29235051/development-of-the-cns-tap-tool-for-the-selection-of-precision-medicine-therapies-in-neuro-oncology
#4
Joseph R Linzey, Bernard L Marini, Amy Pasternak, Cory Smith, Zac Miklja, Lili Zhao, Chandan Kumar-Sinha, Alyssa Paul, Nicholas Harris, Patricia L Robertson, Lindsey M Hoffman, Arul Chinnaiyan, Rajen Mody, Carl Koschmann
The number of targeted therapies utilized in precision medicine are rapidly increasing. Neuro-oncology offers a unique challenge due to the varying blood brain barrier (BBB) penetration of each agent. Neuro-oncologists face a difficult task weighing the growing number of potential targeted therapies and their likelihood of BBB penetration. We developed the CNS TAP Working Group and performed an extensive literature review for the evidence-based creation of the CNS TAP tool, which was retrospectively validated by analyzing brain tumor patients who underwent therapy targeted based on genomic results from an academic sequencing study (MiOncoseq, n = 17) or private molecular profiling (Foundation One, n = 7)...
December 12, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29230413/establishment-and-application-of-prostate-cancer-circulating-tumor-cells-in-the-era-of-precision-medicine
#5
REVIEW
Yoon Seok Suh, Jae Young Joung, Sung Han Kim, Ho Kyung Seo, Jinsoo Chung, Kang Hyun Lee
Prostate cancer (PC) is the second most common cancer in men and is the fifth leading cause of cancer-related deaths worldwide. Additionally, there is concern for overdiagnosis and overtreatment of PC. Thus, selection of an appropriate candidate for active surveillance as well as more accurate and less invasive tools for monitoring advanced PC is required. Circulating tumor cells (CTCs) have emerged as a liquid biopsy tool; there have been several reports on its role, technologies, and applications to various cancers, including PC...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29230392/non-invasive-monitoring-of-cardiac-output-in-critical-care-medicine
#6
REVIEW
Lee S Nguyen, Pierre Squara
Critically ill patients require close hemodynamic monitoring to titrate treatment on a regular basis. It allows administering fluid with parsimony and adjusting inotropes and vasoactive drugs when necessary. Although invasive monitoring is considered as the reference method, non-invasive monitoring presents the obvious advantage of being associated with fewer complications, at the expanse of accuracy, precision, and step-response change. A great many methods and devices are now used over the world, and this article focuses on several of them, providing with a brief review of related underlying physical principles and validation articles analysis...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/29229473/cystic-fibrosis-research-topics-featured-at-the-14th-ecfs-basic-science-conference-chairman-s-summary
#7
Marcus A Mall, Tzyh-Chang Hwang, Ineke Brakman
In recent years, tremendous progress has been made in the development of novel drugs targeting the basic defect in patients with cystic fibrosis (CF). This breakthrough is based on a solid foundation of knowledge on CFTR's function in health and how mutations in CFTR cause CF multi-organ disease. This knowledge has been collected and continuously expanded by an active and persistent CF research community and has paved the way for precision medicine for CF. Since 2004, the European Cystic Fibrosis Society (ECFS) has held an annual Basic Science Conference that has evolved as an international forum for interdisciplinary discussion of hot topics and unsolved questions related to CF research...
December 8, 2017: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/29226748/epigenetic-biomarkers-current-strategies-and-future-challenges-for-their-use-in-the-clinical-laboratory
#8
José Luis García-Giménez, Marta Seco-Cervera, Trygve O Tollefsbol, Carlos Romá-Mateo, Lorena Peiró-Chova, Pablo Lapunzina, Federico V Pallardó
Epigenetic modifications and regulators represent potential molecular elements which control relevant physiological and pathological features, thereby contributing to the natural history of human disease. These epigenetic modulators can be employed as disease biomarkers, since they show several advantages and provide information about gene function, thus explaining differences among patient endophenotypes. In addition, epigenetic biomarkers can incorporate information regarding the effects of the environment and lifestyle on health and disease, and monitor the effect of applied therapies...
December 11, 2017: Critical Reviews in Clinical Laboratory Sciences
https://www.readbyqxmd.com/read/29226734/emerging-first-line-treatment-options-for-bladder-cancer-a-review-of-phase-ii-and-iii-therapies-in-the-pipeline
#9
Omer Jamy, Guru Sonpavde
The treatment of urothelial carcinoma (UC) had remained unchanged for several years until the recent FDA approval of immune checkpoint inhibitors (CPIs) in the salvage setting. Novel dual CPI-CPI and CPI-chemotherapy combinations are now being investigated aggressively as first line therapy for metastatic disease. Areas Covered: We discuss the recent insights into the tumor biology of UC, which may impact the prognosis as well as assist in developing precision medicine. This is followed by an overview of existing treatment including conventional chemotherapy as well as the trials that led to the recent approval of PD-1 and PD-L1 inhibitors...
December 10, 2017: Expert Opinion on Emerging Drugs
https://www.readbyqxmd.com/read/29225960/utility-of-amorphous-calcium-phosphate-based-scaffolds-in-dental-biomedical-applications
#10
Diane R Bienek, Drago Skrtic
Calcium phosphate (CaP) materials are important inorganic constituents in biological hard tissue. CaPs, including amorphous calcium phosphate (ACP) have been widely applied in dental and biomedical applications, such as tissue engineering. Scaffold constructs are commonly used as templates to create a biomimetic environment. This review considers ACP scaffold fabrication techniques, including tissue-engineered constructs with intrinsic incorporation of ACP as well as scaffolds formed via precipitation of mineralized solutions on a substrate...
2017: Biointerface Research in Applied Chemistry
https://www.readbyqxmd.com/read/29225784/diagnosing-alpha-1-antitrypsin-deficiency-the-first-step-in-precision-medicine
#11
REVIEW
Craig P Hersh
Severe alpha-1 antitrypsin (AAT) deficiency is one of the most common serious genetic diseases in adults of European descent. Individuals with AAT deficiency have a greatly increased risk for emphysema and liver disease. Other manifestations include bronchiectasis, necrotizing panniculitis and granulomatosis with polyangiitis. Despite the frequency and potential severity, AAT deficiency remains under-recognized, and there is often a delay in diagnosis. This review will focus on three recent updates that should serve to encourage testing and diagnosis of AAT deficiency: first, the publication of a randomized clinical trial demonstrating the efficacy of intravenous augmentation therapy in slowing the progression of emphysema in AAT deficiency; second, the mounting evidence showing an increased risk of lung disease in heterozygous PI MZ genotype carriers; last, the recent publication of a clinical practice guideline, outlining diagnosis and management...
2017: F1000Research
https://www.readbyqxmd.com/read/29224672/sle-redefined-on-the-basis-of-molecular-pathways
#12
REVIEW
Guillermo Barturen, Marta E Alarcón-Riquelme
The implementation of precision medicine requires the recruiting of patients in statistically enough numbers, the possibility of obtaining enough materials, and the integration of data from various platforms, which are all real limitations. These types of studies have been performed extensively in cancer but barely on systemic lupus erythematosus (SLE) or other rheumatic diseases. To consider the practical use of the information obtained from such studies, we have to take into account the best biological fluid to use, the ease to perform the analysis in clinical practice, and its relevance to clinical practice...
June 2017: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/29222268/tailoring-front-line-therapy-in-diffuse-large-b-cell-lymphoma-who-should-we-treat-differently
#13
REVIEW
Andrew Davies
Although there have been significant insights into the biology of diffuse large B-cell lymphoma (DLBCL) over recent years, progress in our therapeutic approach has been disappointing over the same timeframe. This is not for want of trying. In 2017, R-CHOP (rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone) remains the "gold standard," despite all of our insights into cell-of-origin and other subgroups. We have traditionally used clinical risk factors to tailor our therapies and have tested intensification of chemotherapy with little success...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29218269/blood-based-biomarkers-for-precision-medicine-in-lung-cancer-precision-radiation-therapy
#14
REVIEW
Dirk De Ruysscher, Jianyue Jin, Tim Lautenschlaeger, Jin-Xiong She, Zhongxing Liao, Feng-Ming Spring Kong
Both tumors and patients are complex and models that determine survival and toxicity of radiotherapy or any other treatment ideally must take into account this variability as well as its dynamic state. The genetic features of the tumor and the host, and increasingly also the epi-genetic and proteomic characteristics, are being unraveled. Multiple techniques, including histological examination, blood sampling, measurement of circulating tumor cells (CTCs), and functional and molecular imaging, can be used for this purpose...
December 2017: Translational Lung Cancer Research
https://www.readbyqxmd.com/read/29218267/radiomics-in-precision-medicine-for-lung-cancer
#15
REVIEW
Julie Constanzo, Lise Wei, Huan-Hsin Tseng, Issam El Naqa
With the improvement of external radiotherapy delivery accuracy, such as intensity-modulated and stereotactic body radiation therapy, radiation oncology has recently entered in the era of precision medicine. Despite these precise irradiation modalities, lung cancers remain one of the most aggressive human cancers worldwide, possibly because of diverse genotypic alterations that drive and maintain lung tumorigenesis. It has been long recognized that imaging could aid in the diagnosis, tumor delineation, and monitoring of lung cancer...
December 2017: Translational Lung Cancer Research
https://www.readbyqxmd.com/read/29217837/drug-development-in-the-era-of-precision-medicine
#16
REVIEW
Sarah A Dugger, Adam Platt, David B Goldstein
For the past three decades, the use of genomics to inform drug discovery and development pipelines has generated both excitement and scepticism. Although earlier efforts successfully identified some new drug targets, the overall clinical efficacy of developed drugs has remained unimpressive, owing in large part to the heterogeneous causes of disease. Recent technological and analytical advances in genomics, however, have now made it possible to rapidly identify and interpret the genetic variation underlying a single patient's disease, thereby providing a window into patient-specific mechanisms that cause or contribute to disease, which could ultimately enable the 'precise' targeting of these mechanisms...
December 8, 2017: Nature Reviews. Drug Discovery
https://www.readbyqxmd.com/read/29216340/incorporating-blood-based-liquid-biopsy-information-into-cancer-staging-time-for-a-tnmb-system
#17
M Yang, M E Forbes, R L Bitting, S S O'Neill, P-C Chou, U Topaloglu, L D Miller, G A Hawkins, S C Grant, B R DeYoung, W J Petty, K Chen, B C Pasche, W Zhang
Tissue biopsy is the standard diagnostic procedure for cancer. Biopsy may also provide material for genotyping, which can assist in the diagnosis and selection of targeted therapies but may fall short in cases of inadequate sampling, particularly from highly heterogeneous tumors. Traditional tissue biopsy suffers greater limitations in its prognostic capability over the course of disease, most obviously as an invasive procedure with potential complications, but also with respect to probable tumor clonal evolution and metastasis over time from initial biopsy evaluation...
December 5, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29215763/breast-cancer-the-translation-of-big-genomic-data-to-cancer-precision-medicine
#18
REVIEW
Siew-Kee Low, Hitoshi Zembutsu, Yusuke Nakamura
Cancer is a complex genetic disease that consequence 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 two decades, genomic research has advanced remarkably, evolving from single-gene to whole-genome screening by using genome-wide association study (GWAS) and next generation sequencing (NGS) that contributing to big genomic data. International collaborative efforts have contributed in curating these data to identify clinically significant alterations that could be used in the clinical settings...
December 7, 2017: Cancer Science
https://www.readbyqxmd.com/read/29210986/ubiquitin-specific-peptidase-22-regulates-histone-h2b-mono-ubiquitination-and-exhibits-both-oncogenic-and-tumor-suppressor-roles-in-cancer
#19
REVIEW
Lucile M-P Jeusset, Kirk J McManus
Ubiquitin-Specific Peptidase 22 (USP22) is a ubiquitin hydrolase, notably catalyzing the removal of the mono-ubiquitin moiety from histone H2B (H2Bub1). Frequent overexpression of USP22 has been observed in various cancer types and is associated with poor patient prognosis. Multiple mechanisms have been identified to explain how USP22 overexpression contributes to cancer progression, and thus, USP22 has been proposed as a novel drug target in cancer. However, gene re-sequencing data from numerous cancer types show that USP22 expression is frequently diminished, suggesting it may also harbor tumor suppressor-like properties...
December 6, 2017: Cancers
https://www.readbyqxmd.com/read/29210936/optical-coherence-tomography-and-histology-of-age-related-macular-degeneration-support-mitochondria-as-reflectivity-sources
#20
Katie M Litts, Yuhua Zhang, K Bailey Freund, Christine A Curcio
PURPOSE: Widespread adoption of optical coherence tomography has revolutionized the diagnosis and management of retinal disease. If the cellular and subcellular sources of reflectivity in optical coherence tomography can be identified, the value of this technology will be advanced even further toward precision medicine, mechanistic thinking, and molecular discovery. Four hyperreflective outer retinal bands are created by the exquisite arrangement of photoreceptors, Müller cells, retinal pigment epithelium, and Bruch membrane...
November 23, 2017: Retina
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