Articles tagged with Cancer Genome Sequencing
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...
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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...
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.
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.
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.
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.
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.
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.
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.
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.
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...
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...
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 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Researchers identified a circulating tumor DNA (ctDNA) biomarker that can predict disease recurrence and response to treatment in patients with BRAF-negative melanoma. The study found that measuring ctDNA levels and variants can help tailor therapy and improve patient outcomes.
A new study has found that bats' extraordinary ability to host and survive infections may be linked to their low cancer rates. Researchers sequenced the genomes of two bat species and compared them to other mammals, discovering genetic adaptations that allow bats to tolerate viral infections.
A novel liquid biopsy technology developed by UCSC Assistant Professor Daniel Kim's lab leverages RNA 'dark matter' to enhance cancer diagnosis. The test detects both protein-coding and repetitive noncoding RNAs in the blood, showing improved sensitivity for early-stage cancer detection.