Articles tagged with Cancer Genomics
The study demonstrates that genomic information can identify individuals with a lifetime risk of more than 60% of developing cardiovascular diseases and diabetes. Combining genetic risk data with clinical risk calculators improved the accuracy of current risk estimation approaches.
A new study suggests that rare, damaging inherited mutations can have a significant impact on an individual's healthspan and longevity. Researchers found that people with more ultra-rare protein-truncating variants (PTVs) had shorter lifespans and healthspans, with each additional variant accounting for a six-month reduction in lifespa...
Researchers at the University of Trento identified a new molecular mechanism that determines the fate of cancer cells. The 'switch' protein DHX30 regulates p53's response to treatment, leading to either cell cycle arrest or programmed cell death, with potential applications for solid tumors in the colon, breast, and lung.
Thelma Alessandra Sugrañes, a medical genetics resident, received the David L. Rimoin Inspiring Excellence Award for her platform presentation on age of first cancer diagnosis and survival in Bloom syndrome. The award recognizes her outstanding research on monogenic cancer predisposition syndromes.
Researchers have identified eight new loci that increase a person's risk for squamous cell skin cancer, bringing the total to 22. The study confirmed previously known risk loci while adding new genomic locations, providing insight into genetic associations and molecular pathways involved in skin cancer development.
Researchers have compiled a global catalogue of cancer mutations to help doctors tailor treatments and improve patient outcomes. The study found that 95% of cancer occurrences can be explained by genetic mutations, paving the way for precision medicine.
Researchers have identified 81 distinct mutational signatures in human cancer genomes that can help reveal the origins and development of various types of cancer. These signatures can provide insight into factors that have mutated a cell's genetic material and inform new strategies to prevent, diagnose and treat the disease.
Researchers at the University of Texas MD Anderson Cancer Center have made significant progress in understanding the mitochondrial genome and its role in cancer. The study found that hyper-mutated cases in kidney, colorectal, and thyroid cancers suggest oncogenic impact with signaling pathway activation.
Researchers identified germline mutations in the MBD4 gene as a driver of somatic mutations in cancer genomes, accelerating the clock-like mutational process. This discovery has significant implications for understanding cancer development and may lead to personalized screening and early intervention strategies.
Researchers have completed the most comprehensive study of whole cancer genomes to date, revealing key mutations driving cancer growth. The atlas provides a solid foundation for understanding which genes are damaged in each cancer type.
Butler simplifies genomic data analysis by constantly collecting health metrics and automating self-healing modules. This reduces large project execution times from years to months, improving researcher productivity and efficiency.
Scientists discovered that over 20% of mutations occur in early stages of tumor development, with some changes taking place years or even decades before cancer is diagnosed. These early genetic alterations can be identified using a new method developed by researchers at the Francis Crick Institute.
Researchers found CNVs to be genomic modifiers of ASD/DD risk in individuals with PHTS, providing insight into the disorder's clinical outcomes and potential predictors for medical management. The study suggests CNV burden analysis may aid in predicting clinical outcomes for other clinically heterogeneous disorders.
The study highlights the efficacy of Bluestar Genomics' 5-hmC signal detection technology for detecting breast, lung, pancreatic, and prostate cancer from a single blood draw. The technology demonstrated high performance in classifying samples with high Area Under the Curve measures.
Researchers have compiled a genome reference database of thousands of healthy older Australians, providing a powerful framework to identify new disease-causing gene variants. The database shows genetic changes associated with ageing, including shorter telomeres and less mitochondrial DNA, which may predict health outcomes for individuals.
A Northwestern University team discovered how chromatin folds at the single-cell level, revealing a 3D forest structure. This finding could help scientists understand chromatin's role in cancer and other diseases.
A GW-led consortium has received a $2.2 million grant to develop BioCompute Object Specification Project standards for genomic data analysis, aiming to streamline data exchange between researchers, pharmaceutical companies, and the FDA. The project's goal is to facilitate personalized medicine by comparing and building on genomic data.
A team of researchers at the University of Colorado Boulder has solved the structure of the Facilitates Chromatin Transcription (FACT) protein, a key player in DNA packaging and gene expression. The discovery sheds light on how this protein maintains the integrity of chromatin during transcription, replication, and DNA damage repair.
Scientists at University of Utah Health have discovered new genetic elements that could help control obesity and metabolic disorders. Hibernating mammals have evolved short non-coding DNA snippets near genes linked to obesity in humans.
Researchers have discovered 37 essential FOXA1 binding sites in T47D cells, which act as enhancers to regulate gene expression. The team also developed a machine learning model to predict important transcription factor binding sites, offering promising insights into cancer biology and potential clinical applications.
Researchers have developed a new CRISPR-Cas9 protein, SaCas9-HF, to increase the precision of genome editing. The new variant shows high accuracy in targeting human cells without compromising on-target efficiency.
Researchers identified four distinct immune-based subtypes of kidney cancer, which could help predict patient survival and response to treatment. The study also found that certain tumor microenvironment signatures were associated with better or worse overall survival.
Researchers have developed a high-resolution visual map of the RSC complex, a crucial regulator of chromosome structure and gene expression. This study provides new insights into how RSC-like complexes are involved in cancer development and has implications for understanding chromosomal genes in healthy and cancer cells.
A team of researchers, including CeMM PI Joanna Loizou, will study DNA-damage response systems using cutting-edge technologies. The six-year project aims to create integrated genetic and physical maps of DNA repair pathways in human cell types.
A novel cancer-driving mutation discovered in the human genome's non-coding regions can drive multiple types of cancer, including brain, liver and blood cancers. The mutation could be used to develop novel treatments for patients with these difficult-to-treat diseases.
Researchers at Mount Sinai Hospital have discovered the near-atomic-resolution structure of DNA polymerase delta, a crucial enzyme in genome replication. The team also mapped mutations associated with cancers and other diseases.
Researchers found that high blood sugar levels in diabetes can cause DNA damage and reduce its repair, increasing the risk of certain cancers. The study suggests that controlling blood sugar levels could be an effective way to reduce cancer risk in diabetics.
Researchers analyzed genomic data from 317 MCC patients and found two distinct populations with different genetic profiles and treatment responses. Immunotherapies showed high effectiveness in both groups, with better response rates when given early treatment.
Researchers explore new tools and strategies to interpret multiomics data, revealing insights into bacterial strains and cancer phenotypes.
The freely available data set includes unique comparisons of almost 1,000 cancer cell lines' responses to 453 licensed and experimental drugs. The dataset offers a rich resource for cancer scientists to discover more about how cancer cells work and generate new therapeutics and drug combinations.
University of Birmingham researchers found that the BRCA1 gene changes shape to protect vulnerable DNA until copying machinery can be restarted. This discovery could help understand how cancers develop and potentially identify new ways to suppress tumors.
A study by Massachusetts General Hospital found that DNA single strands can be highly sensitive to mutation by gene-editing enzymes. Many mutations occur in genes unrelated to cancer development, highlighting the need to distinguish between 'driver' and 'passenger' mutations.
A new study from the University of California, Irvine, reveals that many recurrent cancer mutations are not drivers of cancer progression but rather passenger hotspots. The research identified APOBEC3A as a key player in creating these hotspot mutations, which can be targeted for novel cancer therapies.
Researchers at Montana State University have developed software to analyze pangenomes, which can help identify genetic variations associated with drought tolerance in plants. The tool also shows promise for diagnosing diseases with a genetic component, such as certain types of cancer.
The study found that ARID1A controls the genome-wide positioning of condensin II, a complex regulating gene expression through organizing chromosome structure. This loss affects global gene expression, with broad consequences for cancer types, especially ovarian cancer.
Researchers analyzed over 3,500 tumor samples to identify genomic changes that inform targeted treatment strategies for men with advanced prostate cancers. The study found that more than half of patients have characteristics that suggest they are suitable for targeted therapies.
A computational tool assigns a bladder cancer subtype to an individual patient using genomic data, enabling personalized treatment selection. The study found that patients with the aggressive 'neuronal' subtype responded well to atezolizumab treatment, achieving high survival probabilities.
Researchers found that MSI intensity and mutational load significantly impact MMR-deficient tumors' response to PD-1 therapy. Higher mutational loads result in better responses to treatment.
Researchers have identified three medicinal plants from Mauritius with effective inhibitors of esophageal cancer cells, stopping their growth and contributing to their death. The extracts contain natural chemical compounds that restrain the G2/M stages transition in malignant tumor cells by activating AMPK signaling pathway.
Researchers at the Okinawa Institute of Science and Technology Graduate University have decoded the genome of the popular Japanese brown seaweed ito-mozuku. The study reveals genes that drive up fucoidan production, a substance with potential health benefits, and provides data that could aid in farming.
Genevera Allen, a Rice University statistician, emphasizes the need for machine learning systems to question their predictions and assess uncertainty. She argues that current ML techniques often rely on uncorroborated data-driven discoveries, leading to reproducibility issues in fields like precision medicine.
Researchers at University of California San Diego found evidence that p53 stimulates tumor growth by enhancing cancer metabolism, challenging the widely accepted idea that it suppresses cancer. The study suggests that drug therapies designed to enhance p53's function may inadvertently cause opposite effects.
Researchers discovered that EZH2 mutations disrupt chromatin organization, leading to increased tumor growth and altered gene expression. Inhibiting mutated EZH2 restores normal gene regulation, highlighting its therapeutic potential for cancer treatment.
A new study by Tel Aviv University researchers has identified a protein called ubiquilin-4 as a biomarker for genome instability. Elevated levels of this protein in tumor cells accelerate cancer progression and make them resistant to common treatments.
A unique nano-scaled DNA signature common to all cancers has been discovered, allowing for rapid detection from various tissues. This breakthrough technology uses gold nanoparticles to detect cancer DNA fragments and could lead to point-of-care diagnostics.
A new study has shown that genomic profiling can provide meaningful information for more than half of people with rare cancers, influencing diagnosis and treatment. The trial found that 20% of participants received a new treatment plan, and 6% were given a new diagnosis.
Researchers have discovered a possible path forward in preventing cancers linked to the Epstein-Barr virus (EBV) and Kaposi's sarcoma herpesvirus (KSHV), which cause infectious mononucleosis. By blocking the viruses' defense proteins, it may be possible to treat mono and prevent cancer development.
Researchers developed a novel computational tool called ADmiRE to annotate human microRNA variants and determine their potential contribution to diseases. The tool successfully identified microRNA mutations in miR-142 and miR-21 linked to hematologic cancers and esophageal cancer, respectively.
Researchers discovered that cancer-causing papillomaviruses diverged from their common ancestors half a million years ago, coinciding with the split between Neanderthals and modern humans. The viruses adapted to specific host ecosystems and then coevolved with primates for at least 40 million years.
A new Northwestern Medicine study reveals a 'kill code' embedded in every cell that can trigger the self-destruction of cancerous cells. The toxic small RNA molecules can also be triggered by chemotherapy, offering a potential bulletproof treatment against cancer.
Scientists discovered millions of tumor-associated end coordinates in circulating DNA from hepatocellular carcinoma patients. This detection method could enhance the cost-effectiveness of liquid cancer biopsies by identifying cancer biomarkers more readily.
Researchers have mapped the chromatin accessibility landscape of 23 primary human cancer types using ATAC-seq, identifying over 500,000 active DNA regulatory elements. This comprehensive dataset may help partition cancer patients for more effective therapies.
A new DNA tool created by Michigan State University can accurately predict people's height and potentially assess their risk for serious illnesses like heart disease and cancer. The tool uses machine learning and analyzes the complete genetic makeup of nearly 500,000 adults in the UK to build predictors for complex traits.
A study of 50,000 people found that over 80% of those with identifiable genetic risk for breast, ovarian, prostate, and pancreatic cancer are unaware they carry the gene. The findings highlight the need for effective DNA-based screening to identify high-risk individuals before a cancer diagnosis.
A new study reveals how KSHV protein LANA drives chromosomal instability, promoting cell proliferation and aneuploidy. The findings identify NNLS as a promising target for antiviral therapies.
Researchers discovered 137 interactions between HPV proteins and human proteins, revealing common pathways with smoking-related cancers. The study highlights the importance of targeting specific proteins to develop effective treatments for HPV-positive head and neck cancers.
Researchers develop radiomic signature to predict efficacy of immunotherapy in patients with solid tumors. The algorithm analyzes CT scan images to extract biological information, providing a predictive score for treatment effectiveness.
Researchers identify TLK1 and TLK2 as critical for accurate DNA replication, preventing extensive damage and cell death. The study found that these enzymes are rarely mutated in cancers but their high expression correlates with poor patient outcomes.
At least 1% of the US population has an identifiable genetic risk for cancer or heart disease that can be detected through genomic screening. Implementing routine genomic screening could lead to significant benefits, but more work is needed to develop functioning models.
Researchers developed a new technology to identify microRNAs from non-culturable pathogens, discovering five highly probable papillomavirus-encoded microRNAs. These microRNAs regulate viral gene expression and control the papillomavirus life cycle.