STAG2 基因缺失改善膀胱癌的预后
|
By LabMedica International staff writers Posted on 19 Nov 2013 |
|
图片：本图片显示包含 STAG2 基因突变的膀胱癌样本（图片由西班牙国家癌症研究中心提供）
西班牙癌症研究人员开展的一项研究结果显示，STAG2（基质抗原 2）基因突变通过与防止异倍体的基因作用不同的作用机理来抑制膀胱尿路上皮癌 (UBC)。
西班牙国家癌症研究中心的研究人员（马德里）开展了一项外显子组测序研究，以确定基因与非浸润性膀胱癌的相关性。他们分析了来自 17 名膀胱癌患者的外显子组，并通过对另外 60 名患者进行的特定基因组分析对数据进行了随后验证。
研究结果已发表于 2013 年 10 月 13 日的网络版《自然遗传学》(Nature Genetics）杂志上，研究发现：在涉及染色质修饰（MLL2、ASXL2 和 BPTF）、细胞分裂（STAG2、SMC1A 和 SMC1B）以及 DNA 修复（ATM、ERCC2 和 FANCA）的蛋白质肿瘤编码中，有一组此前未知的基因突变。UBC 患者中 STAG2 突变或缺失显著且常见，主要体现于早期或低级别的 UBC，且 STAG2 的缺失与预后改善相关。
“我们发现了此类肿瘤中以前未提及的 9 种基因变化，并发现其中近 40% 的侵袭性最低的肿瘤 STAG2 无活性，”资深作者，西班牙国家癌症研究中心的上皮癌变组组长 Francisco X. Real 博士说。“这些基因中的部分基因参与此前未述及的膀胱癌通路，例如细胞分裂和 DNA 修复；还证实和扩展了此类癌症研究中曾述及的其他基因通路，例如染色质修饰。”
Related Links:
西班牙国家癌症研究中心的研究人员（马德里）开展了一项外显子组测序研究，以确定基因与非浸润性膀胱癌的相关性。他们分析了来自 17 名膀胱癌患者的外显子组，并通过对另外 60 名患者进行的特定基因组分析对数据进行了随后验证。
研究结果已发表于 2013 年 10 月 13 日的网络版《自然遗传学》(Nature Genetics）杂志上，研究发现：在涉及染色质修饰（MLL2、ASXL2 和 BPTF）、细胞分裂（STAG2、SMC1A 和 SMC1B）以及 DNA 修复（ATM、ERCC2 和 FANCA）的蛋白质肿瘤编码中，有一组此前未知的基因突变。UBC 患者中 STAG2 突变或缺失显著且常见，主要体现于早期或低级别的 UBC，且 STAG2 的缺失与预后改善相关。
“我们发现了此类肿瘤中以前未提及的 9 种基因变化，并发现其中近 40% 的侵袭性最低的肿瘤 STAG2 无活性，”资深作者，西班牙国家癌症研究中心的上皮癌变组组长 Francisco X. Real 博士说。“这些基因中的部分基因参与此前未述及的膀胱癌通路，例如细胞分裂和 DNA 修复；还证实和扩展了此类癌症研究中曾述及的其他基因通路，例如染色质修饰。”
Related Links:
Platinum Member
COVID-19 Rapid Test
OSOM COVID-19 Antigen Rapid Test
Complement 3 (C3) Test
GPP-100 C3 Kit
New
Gold Member
Plasma Control
Plasma Control Level 1
Latest Biotech News
Channels
Clinical Chemistry
view channel
3D Printed Point-Of-Care Mass Spectrometer Outperforms State-Of-The-Art Models
Mass spectrometry is a precise technique for identifying the chemical components of a sample and has significant potential for monitoring chronic illness health states, such as measuring hormone levels... Read more.jpg "Image: Reaching speeds up to 6,000 RPM, this centrifuge forms the basis for a new type of inexpensive, POC biomedical test (Photo courtesy of Duke University)")
POC Biomedical Test Spins Water Droplet Using Sound Waves for Cancer Detection
Exosomes, tiny cellular bioparticles carrying a specific set of proteins, lipids, and genetic materials, play a crucial role in cell communication and hold promise for non-invasive diagnostics.... Read more
Highly Reliable Cell-Based Assay Enables Accurate Diagnosis of Endocrine Diseases
The conventional methods for measuring free cortisol, the body's stress hormone, from blood or saliva are quite demanding and require sample processing. The most common method, therefore, involves collecting... Read more
Molecular Diagnostics
view channel.jpg "Image: The fastGEN BCR::ABL1 Cancer kit offers a way to personalize treatment strategies for leukemia (Photo courtesy of BioVendor MDx)")
First of Its Kind NGS Assay for Precise Detection of BCR::ABL1 Fusion Gene to Enable Personalized Leukemia Treatment
The BCR::ABL1 fusion gene plays a key role in the pathogenesis of several blood cancers, particularly chronic myeloid leukemia (CML). This gene results from a chromosomal translocation that causes constitutive... Read more
Urine Test to Revolutionize Lyme Disease Testing
Lyme disease is the most common animal-to-human transmitted disease in the United States, with around 476,000 people diagnosed and treated annually, and its incidence has been increasing.... Read more
Simple Blood Test Could Enable First Quantitative Assessments for Future Cerebrovascular Disease
Cerebral small vessel disease is a common cause of stroke and cognitive decline, particularly in the elderly. Presently, assessing the risk for cerebral vascular diseases involves using a mix of diagnostic... Read more
New Genetic Testing Procedure Combined With Ultrasound Detects High Cardiovascular Risk
A key interest area in cardiovascular research today is the impact of clonal hematopoiesis on cardiovascular diseases. Clonal hematopoiesis results from mutations in hematopoietic stem cells and may lead... Read moreHematology
view channel
Next Generation Instrument Screens for Hemoglobin Disorders in Newborns
Hemoglobinopathies, the most widespread inherited conditions globally, affect about 7% of the population as carriers, with 2.7% of newborns being born with these conditions. The spectrum of clinical manifestations... Read more
First 4-in-1 Nucleic Acid Test for Arbovirus Screening to Reduce Risk of Transfusion-Transmitted Infections
Arboviruses represent an emerging global health threat, exacerbated by climate change and increased international travel that is facilitating their spread across new regions. Chikungunya, dengue, West... Read more
POC Finger-Prick Blood Test Determines Risk of Neutropenic Sepsis in Patients Undergoing Chemotherapy
Neutropenia, a decrease in neutrophils (a type of white blood cell crucial for fighting infections), is a frequent side effect of certain cancer treatments. This condition elevates the risk of infections,... Read more
First Affordable and Rapid Test for Beta Thalassemia Demonstrates 99% Diagnostic Accuracy
Hemoglobin disorders rank as some of the most prevalent monogenic diseases globally. Among various hemoglobin disorders, beta thalassemia, a hereditary blood disorder, affects about 1.5% of the world's... Read moreImmunology
view channel
Diagnostic Blood Test for Cellular Rejection after Organ Transplant Could Replace Surgical Biopsies
Transplanted organs constantly face the risk of being rejected by the recipient's immune system which differentiates self from non-self using T cells and B cells. T cells are commonly associated with acute... Read more
AI Tool Precisely Matches Cancer Drugs to Patients Using Information from Each Tumor Cell
Current strategies for matching cancer patients with specific treatments often depend on bulk sequencing of tumor DNA and RNA, which provides an average profile from all cells within a tumor sample.... Read more
Genetic Testing Combined With Personalized Drug Screening On Tumor Samples to Revolutionize Cancer Treatment
Cancer treatment typically adheres to a standard of care—established, statistically validated regimens that are effective for the majority of patients. However, the disease’s inherent variability means... Read more
Microbiology
view channel
Enhanced Rapid Syndromic Molecular Diagnostic Solution Detects Broad Range of Infectious Diseases
GenMark Diagnostics (Carlsbad, CA, USA), a member of the Roche Group (Basel, Switzerland), has rebranded its ePlex® system as the cobas eplex system. This rebranding under the globally renowned cobas name... Read more
Clinical Decision Support Software a Game-Changer in Antimicrobial Resistance Battle
Antimicrobial resistance (AMR) is a serious global public health concern that claims millions of lives every year. It primarily results from the inappropriate and excessive use of antibiotics, which reduces... Read more
New CE-Marked Hepatitis Assays to Help Diagnose Infections Earlier
According to the World Health Organization (WHO), an estimated 354 million individuals globally are afflicted with chronic hepatitis B or C. These viruses are the leading causes of liver cirrhosis, liver... Read more
1 Hour, Direct-From-Blood Multiplex PCR Test Identifies 95% of Sepsis-Causing Pathogens
Sepsis contributes to one in every three hospital deaths in the US, and globally, septic shock carries a mortality rate of 30-40%. Diagnosing sepsis early is challenging due to its non-specific symptoms... Read morePathology
view channel
New Blood Test Device Modeled on Leeches to Help Diagnose Malaria
Many individuals have a fear of needles, making the experience of having blood drawn from their arm particularly distressing. An alternative method involves taking blood from the fingertip or earlobe,... Read more
Robotic Blood Drawing Device to Revolutionize Sample Collection for Diagnostic Testing
Blood drawing is performed billions of times each year worldwide, playing a critical role in diagnostic procedures. Despite its importance, clinical laboratories are dealing with significant staff shortages,... Read more.jpg "Image: The Aperio GT 450 DX has received US FDA 510(k) clearance (Photo courtesy of Leica Biosystems)")
Use of DICOM Images for Pathology Diagnostics Marks Significant Step towards Standardization
Digital pathology is rapidly becoming a key aspect of modern healthcare, transforming the practice of pathology as laboratories worldwide adopt this advanced technology. Digital pathology systems allow... Read more
First of Its Kind Universal Tool to Revolutionize Sample Collection for Diagnostic Tests
The COVID pandemic has dramatically reshaped the perception of diagnostics. Post the pandemic, a groundbreaking device that combines sample collection and processing into a single, easy-to-use disposable... Read moreTechnology
view channel
New Diagnostic System Achieves PCR Testing Accuracy
While PCR tests are the gold standard of accuracy for virology testing, they come with limitations such as complexity, the need for skilled lab operators, and longer result times. They also require complex... Read more
DNA Biosensor Enables Early Diagnosis of Cervical Cancer
Molybdenum disulfide (MoS2), recognized for its potential to form two-dimensional nanosheets like graphene, is a material that's increasingly catching the eye of the scientific community.... Read more
Self-Heating Microfluidic Devices Can Detect Diseases in Tiny Blood or Fluid Samples
Microfluidics, which are miniature devices that control the flow of liquids and facilitate chemical reactions, play a key role in disease detection from small samples of blood or other fluids.... Read more
Breakthrough in Diagnostic Technology Could Make On-The-Spot Testing Widely Accessible
Home testing gained significant importance during the COVID-19 pandemic, yet the availability of rapid tests is limited, and most of them can only drive one liquid across the strip, leading to continued... Read moreIndustry
view channel_1.jpg "Image: Thermo Fisher will distribute Bio-Techne products across Europe (Photo courtesy of 123RF)")
Thermo Fisher and Bio-Techne Enter Into Strategic Distribution Agreement for Europe
Thermo Fisher Scientific (Waltham, MA USA) has entered into a strategic distribution agreement with Bio-Techne Corporation (Minneapolis, MN, USA), resulting in a significant collaboration between two industry... Read more
ECCMID Congress Name Changes to ESCMID Global
Over the last few years, the European Society of Clinical Microbiology and Infectious Diseases (ESCMID, Basel, Switzerland) has evolved remarkably. The society is now stronger and broader than ever before... Read more
