A Specific Mutation Links Some Forms of Inherited Melanoma
|
By LabMedica International staff writers Posted on 09 Apr 2014 |
|
![Image: Melanoma on a patient\'s skin (Photo courtesy of the [US] National Cancer Institute).](https://globetechcdn.com/mobile_labmedica/images/stories/articles/article_images/2014-04-09/GMS-097.jpg "Image: Melanoma on a patient\'s skin (Photo courtesy of the [US] National Cancer Institute).")
Image: Melanoma on a patient\'s skin (Photo courtesy of the [US] National Cancer Institute).
A mutation that inactivates the POT1 (protection of telomeres 1) gene has been linked to the development of an inherited form of melanoma.
The POT1 gene encodes for synthesis of "protection of telomeres protein 1" protein, a nuclear protein involved in telomere maintenance. This protein functions as a member of a multiprotein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation.
Investigators at the Wellcome Trust Sanger Institute (Hinxton, United Kingdom) and the University of Leeds (United Kingdom) searched for unrecognized promelanoma genes by sequencing the DNA from184 melanoma patients from 105 families recruited in the United Kingdom, The Netherlands, and Australia that were negative for variants in genes known to be linked to predisposition for developing melanoma.
They identified families where melanoma co-segregated with loss-of-function variants in the POT1gene, with a proportion of family members presenting with an early age of onset and multiple primary tumors. They showed that these variants either affected POT1 mRNA splicing or altered key residues in the highly conserved oligonucleotide/oligosaccharide-binding domains of POT1, disrupting protein-telomere binding and leading to increased telomere length. These findings suggest that POT1 variants predispose to melanoma formation via a direct effect on telomeres.
"Genomics is on the verge of transforming the healthcare system – this study highlights the potential clinical benefits that can be gained through genomic studies and offers potential strategies to improve patient care and disease management," said senior author Dr. David Adams, leader of the experimental cancer genetics program at the Wellcome Trust Sanger Institute. "With this discovery we should be able to determine who in a family is at risk, and in turn, who should be regularly screened for early detection."
The article linking POT1 mutations to melanoma was published in the March 30, 2014, online edition of the journal Nature Genetics.
Related Links:
Wellcome Trust Sanger Institute
University of Leeds
The POT1 gene encodes for synthesis of "protection of telomeres protein 1" protein, a nuclear protein involved in telomere maintenance. This protein functions as a member of a multiprotein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation.
Investigators at the Wellcome Trust Sanger Institute (Hinxton, United Kingdom) and the University of Leeds (United Kingdom) searched for unrecognized promelanoma genes by sequencing the DNA from184 melanoma patients from 105 families recruited in the United Kingdom, The Netherlands, and Australia that were negative for variants in genes known to be linked to predisposition for developing melanoma.
They identified families where melanoma co-segregated with loss-of-function variants in the POT1gene, with a proportion of family members presenting with an early age of onset and multiple primary tumors. They showed that these variants either affected POT1 mRNA splicing or altered key residues in the highly conserved oligonucleotide/oligosaccharide-binding domains of POT1, disrupting protein-telomere binding and leading to increased telomere length. These findings suggest that POT1 variants predispose to melanoma formation via a direct effect on telomeres.
"Genomics is on the verge of transforming the healthcare system – this study highlights the potential clinical benefits that can be gained through genomic studies and offers potential strategies to improve patient care and disease management," said senior author Dr. David Adams, leader of the experimental cancer genetics program at the Wellcome Trust Sanger Institute. "With this discovery we should be able to determine who in a family is at risk, and in turn, who should be regularly screened for early detection."
The article linking POT1 mutations to melanoma was published in the March 30, 2014, online edition of the journal Nature Genetics.
Related Links:
Wellcome Trust Sanger Institute
University of Leeds
New
Platinum Member
Flu SARS-CoV-2 Combo Test
OSOM® Flu SARS-CoV-2 Combo Test
POCT Fluorescent Immunoassay Analyzer
FIA Go
New
Gold Member
Fully Automated Cell Density/Viability Analyzer
BioProfile FAST CDV
Latest Pathology News
- New Technique Reveals Earliest Signs of Genetic Mutations
- New WHO Reporting System for Lung Cytopathology to Enhance Diagnostic Accuracy
- Self-Taught AI Tool Diagnoses and Predicts Severity of Common Lung Cancer
- Novel AI-Powered Method for Tissue Analysis Improves Understanding of Disease Pathology
- Noninvasive Technology Detects Rare Cancer Cells in Blood
- AI Tool Detects Tiny Protein Clumps in Microscopy Images in Real-Time
- New Tool Enables Better Classification of Inherited Disease-Causing Variants
- Groundbreaking CRISPR Screen Technology Rapidly Determines Disease Mechanism from Tissues
- New AI Tool Classifies Brain Tumors More Quickly and Accurately
- AI Integrated With Optical Imaging Technology Enables Rapid Intraoperative Diagnosis
- HPV Self-Collection Solution Improves Access to Cervical Cancer Testing
- Hyperspectral Dark-Field Microscopy Enables Rapid and Accurate Identification of Cancerous Tissues
- AI Advancements Enable Leap into 3D Pathology
- New Blood Test Device Modeled on Leeches to Help Diagnose Malaria
- Robotic Blood Drawing Device to Revolutionize Sample Collection for Diagnostic Testing
- Use of DICOM Images for Pathology Diagnostics Marks Significant Step towards Standardization
Channels
Clinical Chemistry
view channel
New ADLM Guidance Provides Expert Recommendations on Clinical Testing For Respiratory Viral Infections
Respiratory tract infections, predominantly caused by viral pathogens, are a common reason for healthcare visits. Accurate and swift diagnosis of these infections is essential for optimal patient management.... Read more
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 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.jpg "Image: The AI tool predicts whether someone’s cancer will respond to immune checkpoint inhibitors (Photo courtesy of National Cancer Institute)")
AI Tool Predicts Cancer Patients’ Response to Immunotherapy
Immune checkpoint inhibitors are a form of immunotherapy drug that enables immune cells to target and destroy cancer cells. At present, the Food and Drug Administration has approved two predictive biomarkers... Read more
Molecular Profiling Improves Diagnosis for Children with High Risk Cancers
Cancer remains the leading cause of disease-related death among children in most developed nations, and approximately one-fourth of these patients are diagnosed with aggressive, high-risk, or relapsed... Read more
.jpg "Image: The AI predictive model identifies the most potent cancer killing immune cells for use in immunotherapies (Photo courtesy of Shutterstock)")
Microbiology
view channel
Rapid UTI Test Cuts Detection Time from 3 days to 45 Minutes
Antimicrobial Resistance (AMR), also known as antibiotic resistance or superbugs, is a silent but growing pandemic where bacteria have become resistant to lifesaving antibiotics due to decades of overuse and misuse.... Read more
POC STI Test Shortens Time from ED Arrival to Test Results
In a 2024 sexually transmitted infections (STIs) surveillance report by the World Health Organization (WHO), over 2.5 million cases were recorded, alongside a rise in the inappropriate use of antibiotics... Read more
Integrated Solution Ushers New Era of Automated Tuberculosis Testing
Tuberculosis (TB) is responsible for 1.3 million deaths every year, positioning it as one of the top killers globally due to a single infectious agent. In 2022, around 10.6 million people were diagnosed... Read more
Automated Sepsis Test System Enables Rapid Diagnosis for Patients with Severe Bloodstream Infections
Sepsis affects up to 50 million people globally each year, with bacteraemia, formerly known as blood poisoning, being a major cause. In the United States alone, approximately two million individuals are... Read morePathology
view channel
New Technique Reveals Earliest Signs of Genetic Mutations
Mutations are alterations in the molecular "letters" that constitute the DNA code, which serves as the blueprint for all living cells. While some of these changes may be inconsequential, others can lead... Read more
New WHO Reporting System for Lung Cytopathology to Enhance Diagnostic Accuracy
Lung cancer continues to be the most common cause of cancer-related deaths worldwide and ranks as the second most frequently diagnosed cancer in both men and women. The role of lung cytopathology, which... Read more
Self-Taught AI Tool Diagnoses and Predicts Severity of Common Lung Cancer
A computer program powered by artificial intelligence (AI) and trained on nearly half a million tissue images can effectively diagnose cases of adenocarcinoma, the most prevalent type of lung cancer.... Read more
Novel AI-Powered Method for Tissue Analysis Improves Understanding of Disease Pathology
Scientists at Brown University (Providence, RI, USA) and the University of Michigan (Ann Arbor, MI, USA) have created a groundbreaking computational technique to examine complex tissue data, potentially... Read moreTechnology
view channel
Microneedle Patch Detects Skin Cancer Early
Wearable bioelectronics has emerged as a significant innovation in healthcare, especially in the field of biosensing, providing a new method to monitor individual health for both diagnostic and therapeutic purposes.... Read more
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
Industry
view channel
Roche and Hitachi High-Tech Extend 46-Year Partnership for Breakthroughs in Diagnostic Testing
Roche (Basel, Switzerland) and Hitachi High-Tech (Tokyo, Japan) have renewed their collaboration agreement, committing to a further 10 years of partnership. This extension brings together their long-standing... Read more
Danaher and Johns Hopkins University Collaborate to Improve Neurological Diagnosis
Unlike severe traumatic brain injury (TBI), mild TBI often does not show clear correlations with abnormalities detected through head computed tomography (CT) scans. Consequently, there is a pressing need... Read more
Beckman Coulter and MeMed Expand Host Immune Response Diagnostics Partnership
Beckman Coulter Diagnostics (Brea, CA, USA) and MeMed BV (Haifa, Israel) have expanded their host immune response diagnostics partnership. Beckman Coulter is now an authorized distributor of the MeMed... Read more_1.jpg "Image: Thermo Fisher will distribute Bio-Techne products across Europe (Photo courtesy of 123RF)")
