Cancer Genome Sequencing
Articles tagged with Cancer Genome Sequencing
Revealing the unusual ability of a protein involved in lung and thyroid cancer
Researchers have discovered that the CCDC6-RET protein can activate itself, accelerating its function and making it a promising target for cancer therapy. The study also reveals a new mechanism of action, where the protein can utilize both ATP and ADP as energy sources.
European project brings AI-powered cancer genome interpretation closer to the clinic
The European project CGI-Clinics brings AI-powered Cancer Genome Interpreter (CGI) closer to clinical applications, enabling reliable and scalable tumour genome interpretation in precision oncology. The platform leverages machine learning to transform complex genomic data into actionable insights.
New alliance clinical trial aims to improve outcomes in brain tumors
A new clinical trial will investigate whether adding the oral medication vorasidenib to standard chemotherapy improves progression-free survival for people with newly-diagnosed, grade 3 IDH-mutant astrocytoma. The study aims to recruit 400 individuals with this type of brain cancer and evaluate the safety and side-effect profile of the...
NIH-led study reveals role of mobile DNA elements in lung cancer progression
A NIH-led study identified key factors driving tumor evolution and influence outcomes in lung cancer, revealing a previously unknown origin of aggressive tumors associated with the ID2 mutational signature linked to LINE-1 reactivation. Major driver gene mutations also influenced tumor evolutionary trajectories.
Smoking and biological sex shape healthy bladder tissue evolution, offering clues to cancer risk
Researchers found that smoking and biological sex shape how normal cells evolve in healthy bladder tissue, with certain mutations gaining an advantage to expand into clones. This study offers new insights into cancer risk and prevention by providing a way to understand tissue evolution and identify early warning signs.
Zombie cancer cells give cold shoulder to chemotherapy
Cancer cells with abundant circular DNA elements (ecDNA) carrying oncogenes like MYCN are resistant to chemotherapy. Combining standard chemotherapy with a secondary therapy targeting these senescent cells leads to improved outcomes in mouse models of neuroblastoma and medulloblastoma.
New Mayo Clinic tool exposes hidden cancer DNA changes that may drive treatment resistance
Researchers at Mayo Clinic have developed a new tool called BACDAC to identify signs of genomic instability in cancer. The tool uses DNA sequencing to detect structural alterations in tumors, which can fuel aggressive growth and evade standard testing.
New AI tool illuminates “dark side” of the human genome
Researchers at Salk Institute launched a machine learning framework called ShortStop to explore overlooked DNA regions and discover microproteins with potential roles in disease. The tool identified 210 new microprotein candidates in lung cancer data, including one validated target for therapeutic treatment.
From the lab to the hand: nanodevice brings personalized genomics closer to reality
Researchers at The University of Osaka have developed a novel technology to unzip DNA's double helix structure, allowing for efficient and accurate genetic testing. The device uses a nano-sized platinum coil and precise heating to minimize DNA damage and read information from the DNA molecule.
NIST releases trove of genetic data to spur cancer research
The National Institute of Standards and Technology (NIST) has released detailed genetic data about a pancreatic cancer cell, fostering progress in cancer research. The data can be used to research tumors, improve diagnostic tests, and develop new cancer treatments.
Air pollution may contribute to development of lung cancer in never-smokers, new study finds
A new study reveals that air pollution contributes to the development of lung cancer in people with no or hardly any history of smoking. The study found a strong association between air pollution and genetic mutations in lung tumors, particularly driver mutations that promote cancer development.
Genomic abnormalities in T-follicular helper lymphoma and patient outcomes
This study identifies three molecular classifications of T-follicular helper lymphoma based on genetic mutations, including C1, C2, and C3, which show different prognostic outcomes. The research also classifies tumor microenvironments into three types, with TME2 linked to poor outcomes.
Study provides new insights into the genetic complexity of cancer metastasis
A new study found that tumors with multiple sites undergo significant genetic changes, including whole-genome duplication, when they metastasize. This led researchers to wonder why copy-number alterations are more common than mutations in metastatic tumors.
Childhood kidney cancer has millions of genetic changes, opening door to possible treatments
Researchers found that childhood kidney cancers have significantly more genetic changes than previously thought, with some tumors having up to millions of changes. This discovery challenges the existing notion that childhood cancers have few genetic variants and suggests new treatment options such as immunotherapy.
New AI tool reveals single-cell structure of chromosomes — in 3D
A new AI tool developed by University of Missouri researchers can predict the 3D shape of chromosomes inside individual cells, providing a new view of how genes work. The tool helps identify unique differences in chromosome folding between cells, which controls gene activity and can lead to diseases like cancer.
First-ever long read datasets added to two Kids First studies
The release of long-read sequencing datasets for two Kids First studies provides a fuller understanding of how genetics contributes to childhood cancers and congenital disorders. The datasets include improved genome assembly capabilities, facilitating variant discovery and potential targeted therapy development.
Lung-MAP 3.0: Landmark trial expands genomic screening options for enrolling patients
The Lung-MAP 3.0 trial introduces a simplified genomic screening process, allowing most patients to be matched to a targeted treatment sub-study based on prior testing results. This expansion increases access to investigational treatments for patients with advanced non-small cell lung cancer.
Genomic analysis provides insight into underpinnings of new treatment combination for deadly, Asian-prevalent lymphoma
A new combination therapy using cemiplimab and isatuximab has shown promising results in a phase 2 clinical trial for extranodal NK/T-cell lymphoma, with 51% of patients achieving complete response. The study validated genomic biomarkers and a prognostic model developed by the National Cancer Centre Singapore, offering potential for mo...
Light bulb moment for understanding DNA repair switches
Scientists at the University of Birmingham have made strides in understanding how cells repair DNA damage. Two studies identify key players and mechanisms involved in preventing excessive DNA signal overload, which could lead to refinements in future cancer therapies.
New strategy may enable cancer monitoring from blood tests alone
A new method for detecting cancer from blood samples has been developed, enabling the detection of extremely low concentrations of circulating tumor DNA. The technique, which combines whole-genome sequencing with error-correcting methods, shows high sensitivity and accuracy in identifying cancer mutations.
Scientists create “metal detector” to hunt down tumors
Researchers created an algorithm called PRRDetect to identify tumors with faulty DNA repair mechanisms, which are more sensitive to immunotherapy. The algorithm could help doctors tailor treatments to individual patients and improve treatment outcomes for cancers such as lung and brain tumors.
Study uncovers genetic drivers of aggressive prostate cancer
A study uncovered new genetic clues explaining why some prostate cancers grow slowly while others become life-threatening, identifying 223 mutations that determine tumor progression. The research shows germline and somatic variability work together to initiate and drive prostate cancer.
KAIST discovers molecular switch that reverses cancerous transformation at the critical moment of transition
Researchers at KAIST have discovered a molecular switch that can induce cancer reversal by capturing the moment of critical transition before normal cells become irreversibly cancerous. The technology uses single-cell RNA sequencing data and computer simulation analysis to identify the molecular switch.
New data sets from NIH Kids First Program accelerates rare childhood disease research
Two comprehensive datasets from the Gabriella Miller Kids First Pediatric Research Program explore childhood cancers and congenital disorders. The new datasets aim to identify genetic causes and links between these diseases in children, ultimately supporting the development of improved treatments.
Researchers uncover what drives aggressive bone cancer
A new study identifies loss-translocation-amplification chromothripsis as a key mechanism driving osteosarcoma tumour development and evolution. This discovery has significant implications for treatment options and patient outcomes, highlighting the importance of investing in studies exploring cancer mechanisms.
Advances and applications in single-cell and spatial genomics
This review highlights the transformative capabilities of single-cell and spatial genomics, providing critical insights into disease mechanisms and developing innovative therapies. The technologies enable comprehensive cell atlases, tracing the evolution of sequencing methods and incorporating multi-omics approaches, which significantl...
SABCS: Improved survival for advanced breast cancer, using genomics to identify patients with high risk of recurrence, how race/ethnicity influence the risk of heart failure in early-stage breast cancer and more
Researchers at UCLA Health presented several breakthroughs at the San Antonio Breast Cancer Symposium, including improved survival rates for advanced breast cancer patients who receive trastuzumab deruxtecan (T-DXd), a novel ADC. Additionally, new genomic testing and circulating tumor DNA analysis may help identify high-risk patients a...
Researchers map genetic variants associated with pancreatic cancer in Brazilian patients
A pioneering study of 192 Brazilian patients with pancreatic ductal adenocarcinoma identified genetic variants associated with the disease. The researchers found that 6.25% had pathogenic germline variants in genes predisposing to pancreatic cancer, and 13% had variants in genes associated with limited or previously unknown associations.
Children’s Hospital of Philadelphia researchers identify gene signature for high-risk form of T-cell acute lymphoblastic leukemia
Children's Hospital of Philadelphia researchers discovered a gene signature that identifies patients with T-ALL at high risk of relapse. The study found a potential therapeutic treatment, venetoclax, which targets specific cells associated with poor outcomes.
Healthy women have cells that resemble breast cancer, study finds
A new study from the University of Texas M. D. Anderson Cancer Center found that at least 3% of normal breast tissue cells in healthy women contain chromosome abnormalities associated with invasive breast cancer, which may guide future approaches to early detection.
AI tool ‘sees’ cancer gene signatures in biopsy images
A new AI-powered tool can predict the activity of thousands of genes within tumor cells based on standard microscopy images of biopsy samples. The tool showed a high correlation with real gene activity data, particularly for certain cancer types.
New genetic changes linked to testicular cancer offer fresh insights into the disease and its treatment
Testicular cancer is a highly treatable condition with high survival rates when detected early, but patients with the highest-risk disease face a lower prognosis. New genetic changes have been identified using whole genome sequencing, offering potential new treatment strategies.
Comprehensive Genomic Profiling leads to better patient outcomes, new joint study says
A new real-world study found that Comprehensive Genomic Profiling (CGP) leads to better personalized treatment and patient outcomes when done early in a cancer diagnosis. CGP-assessed patients received biomarker-driven targeted therapy or immunotherapy, significantly improving overall survival of 25 months compared to chemotherapy alone.
Personalised cancer care for majority whose genes were sequenced, study finds
A new study published in The British Journal of Cancer found that whole genome sequencing can help identify treatment recommendations for cancer patients. The study evaluated the regional implementation of the 100,000 Genomes Project and found that different types of cancer were associated with varying rates of recommended actions.
Research proves stool DNA as non-invasive alternative for colorectal cancer screening in Thailand
A recent study demonstrates that stool DNA testing is highly sensitive and specific for detecting colorectal cancer among Thai individuals, with a sensitivity of 91.5% and specificity of 90.3%. The test targets methylation statuses of three genes and may provide a viable non-invasive alternative to colonoscopy.
Nature Communications: Nivolumab and anlotinib show promising results in advanced stomach cancer
A recent clinical trial found that the Nivolumab and Anlotinib combination therapy significantly reduced tumor size in nearly one-third of patients, while most experienced stability in their condition. The treatment also showed improved survival outcomes compared to historical data, with a manageable safety profile.
Tumor evolution is written in the genome
A research team at IIT has identified a molecular signature in triple-negative breast cancer cells that can predict the formation of metastases and chemotherapy resistance. The study used single-cell sequencing to track the evolution of cancer cells over time, revealing key epigenetic features involved in tumor development.
Study uncovers mutations and DNA structures driving bladder cancer
Researchers at Weill Cornell Medicine discovered that antiviral enzymes and chemotherapy can cause early mutations in bladder cancer, leading to resistance to treatment. Complex circular DNA structures also play a key role in driving the progression of urothelial carcinoma, a common type of bladder cancer.
First genome-wide comparison of vapers and smokers finds similar DNA changes linked to disease risk
Researchers compared epigenetic changes across the genome in young adults who vaped, smoked or did not use nicotine products, finding a tumor-suppressor gene among the key findings. The study found substantial overlap in DNA methylation patterns between people who vaped versus those who smoked.
Researchers improve search for cancer drivers
A novel network computer model, DiWANN, allows for efficient searches of cancer genetic data, identifying co-occurring mutations and similarities among DNA sequence elements across several types of cancer. The model provides a scalable solution to prioritize possible treatment targets.
Newly discovered mechanism halts tumor cell replication
Researchers at the University of Bologna have identified a specific location and genomic context where DNA breaks occur due to topoisomerase I inhibition. This discovery could lead to new cancer treatments by inducing DNA damage and genomic instability in cancer cells.
Novel blood test helps improve cancer treatments
A new liquid biopsy method analyzes gene fragments in the bloodstream to detect and track cancer, enabling oncologists to tailor treatment approaches to individual patients. This non-invasive test can help monitor treatment success, detect cancer recurrence, and improve patient quality of life.
Ultrasensitive liquid biopsy tech spots cancer earlier than standard methods
Researchers at Weill Cornell Medicine developed an artificial intelligence-powered method for detecting tumor DNA in blood, showing high sensitivity and accuracy in predicting cancer recurrence. The technology, called MRD-EDGE, can detect subtle patterns in sequencing data to distinguish between cancer and non-cancerous signals.
Some CRISPR screens may be missing cancer drug targets
New research reveals that CRISPR/Cas9 gene editing tools have biases against cells from people of African ancestry, leading to false negative results. The study's findings highlight the importance of increasing genetic diversity in large-scale cell line libraries to mitigate this bias.
Children’s Hospital Los Angeles team finds new potential causes of rare and lethal bone cancer
A genomic study uncovers germline ARID1B and mitochondrial variants that may drive pediatric chordoma genesis, a rare and aggressive bone tumor. The study found aberrant indels and haywire mitochondria in 22% of pediatric chordoma samples.
Discovering cancers of epigenetic origin without DNA mutation
Researchers have found that genetic mutations are not essential for cancer onset, and instead, epigenetic dysregulation plays a crucial role. Epigenetic changes can cause gene expression to be altered, leading to tumour formation even after the signal has been restored.
International DNA Day launch for Hong Kong’s Moonshot for Biology
The Hong Kong Biodiversity Genomics Consortium has launched a project to sequence the genomes of its eukaryotic biodiversity, which is rich in species but threatened by climate change. The first five genomes have been published in GigaByte Journal to coincide with International DNA Day.
USF study: Genomic research may help explain cancer resistance in Tasmanian devils
Researchers from USF have made significant findings on the genetic basis of disease, using a joint genome-wide association study to track co-evolution between Tasmanian devils and an infectious cancer. The study provides valuable insights that can inform epidemiological models and devil management strategies.
Analytical validation of NeXT Personal®, an ultra-sensitive personalized circulating tumor DNA assay
NeXT Personal assay detects up to ~1,800 somatic variants specific to the patient's tumor with a detection threshold of 1.67 PPM and 99.9% specificity. The assay showed linearity over a range of 0.8 to 300,000 PPM.
‘Junk DNA’ no more: Johns Hopkins investigators develop method of identifying cancers from repeat elements of genetic code
Scientists at Johns Hopkins have developed a novel approach to identify cancer-causing repeats in DNA sequences, enabling non-invasive detection and monitoring of cancers. The ARTEMIS method uses machine learning to analyze cell-free DNA and distinguish between tumor and normal tissues with high accuracy.
Scientists develop a rapid gene-editing screen to find effects of cancer mutations
Researchers create a technique using prime editing to quickly and easily screen cancer genes, revealing new information on p53 mutations. The method allows for the analysis of over 1,000 different mutations in the tumor suppressor gene p53, which are seen in more than half of all cancer patients.
How a natural compound from sea squirts combats cancer
Researchers have deciphered trabectedin's precise mechanism of action, revealing its ability to induce persistent DNA breaks in cancer cells. This disruption of the transcription-coupled nucleotide excision repair (TC-NER) pathway leads to long-lasting DNA breaks that ultimately kill cancer cells.
NYGC researchers part of Global Cancer Grand Challenges team, aim to address cancer inequities in the African diaspora
A team of NYGC researchers, led by Dr. Melissa Davis, has received a $25M grant to study cancer inequities in diverse populations. They aim to analyze genomic data from participants with African ancestry to identify factors contributing to disparities in cancer outcomes.
Deciphering the male breast cancer genome
Researchers deciphered the male breast cancer genome, identifying gene mutations and molecular profiles that could impact diagnosis and treatment. The study found mutations in genes known to drive cancer growth and structural variants impacting other cancer-associated genes.
NCI-MATCH cancer trial discovers a potentially broader role for an established dual HER2-blocking treatment
The NCI-MATCH precision medicine trial discovered that trastuzumab-pertuzumab, approved for HER2-positive breast cancer, can shrink tumors in patients with other types of cancer and high levels of the HER2 gene. The study found a 12% confirmed overall response rate, with partial responses in various cancers.
Combining causal and correlative approaches to discover response biomarkers to paclitaxel
Researchers identified a putative paclitaxel response predictive biomarker for glioblastoma and breast cancer using the whole genome CRISPR knockout screen. The biomarker candidate was validated in two independent breast cancer patient cohorts that received taxane treatment.
“Genomic time machine” reveals secrets of our DNA
A new study reveals a larger number of transposable elements in the human genome than previously known, shedding light on their potential role in human diseases. The 'genomic time machine' approach allowed researchers to identify degenerate TEs that were missed in previous studies.
Landmark national study supports use of whole genome sequencing in standard cancer care
A landmark national study has shown that combining health data with whole genome sequence (WGS) data can help doctors provide more tailored care for patients with cancer. The research found specific genetic changes associated with better or worse survival rates and improved patient outcomes across different cancer types.
Defusing a ‘ticking time bomb’: Groundbreaking research offers early clues to stomach cancer development
Researchers identified 26 'driver genes' that play a pivotal role in the transition to stomach cancer, providing a critical window for early detection and targeted prevention. The study's findings offer new insights into the mechanisms governing the transformation of intestinal metaplasia into stomach cancer.