Articles tagged with Cancer Genomics
A study by Dmitry Gordenin and colleagues found that genomic DNA changes in skin cells accumulate over time, with the amount of damage caused by UV light unrelated to age. Black individuals exhibited less UV damage compared to white donors, possibly due to higher melanin levels.
The study uses a decontamination algorithm to identify the bacteria living in tumors, finding that normal and cancerous organ tissues have distinct microbiota compositions. The researchers also discovered that bacterial information could help diagnose cancer and predict patient outcomes.
Researchers have classified angiosarcomas into three subtypes based on genomic and immune profiles, enabling personalized treatment approaches. The study suggests that checkpoint immunotherapy can be effective for clusters one and three, while tumour-promoting genes in cluster two may be explored as potential targets.
Researchers have identified seven DNA fingerprints that define cancer risk, including a protective germline pattern and six that present a higher risk. The discovery refines the long-held view that lifestyle factors contribute to cancer risk and sheds light on the role of genetics in cancer development.
Researchers identified genomic heterogeneity and immune content scores that predict lethal outcomes in grade 4/5 prostate cancer patients. The study found that approximately 25% of these patients were more likely to benefit from targeted treatment strategies.
Researchers developed a polygenic risk score to assess breast cancer risk in carriers of high-risk mutations. The score provides a more accurate estimate, especially for close relatives, and has the potential to save lives by targeting cancer screening.
A recent study reveals unique mutation patterns in the genes PIK3CA, GNAS, SMAD3, and TSC2 among young patients with appendiceal cancer. These findings suggest potential for targeted therapies, such as alpelisib, which have already been approved for advanced breast cancer.
A new framework helps determine the exact timing of DNA mutations in cancer genomes, enabling more targeted and personalized treatments. By analyzing 22 different algorithms on nearly 300 prostate cancer samples, UCLA researchers identified biases and variability to improve treatment outcomes.
A new whole-body tissue map of 5-hydroxymethylcytosine (5hmC) modifications was published, expanding understanding of a global biomarker for disease diagnosis. The map confirms 5hmC as a prevalent gene activation mark with superb tissue specificity, providing a resource for future diagnostic tests.
A new study has shed light on the role of p53 target gene Zmat3 in lymphoma and lung cancer development. Researchers found that disabling Zmat3 had little impact on tumor development, suggesting that other proteins may be involved in preventing cancer formation.
A team of researchers analyzed 648 DFT1 tumors collected between 2003 and 2018, revealing that early on in the spread of the tumor, five clades emerged, with two dying out while three continued to spread. The study highlights the importance of geography in influencing the movements of devils and their disease.
The UC Santa Cruz Genomics Institute is teaming up with No Stomach For Cancer to release a web portal that combines vast amounts of gene variant data with corresponding clinical data. This collaboration aims to advance science and patient survival by identifying individuals at risk of hereditary stomach cancers.
A study of patients with cancer who had exceptional responses to therapy has identified molecular changes in their tumors that contribute to these unexpected and long-lasting responses. The researchers used genomic characterizations to uncover genetic alterations that may help understand the mechanisms behind these rare responses.
Researchers at Huntsman Cancer Institute discovered that chromatin remodeling machines have a motor-like component that drives the machine along DNA, disrupting nucleosome beads. The team found cancer-causing mutations in an area of the hub regulating motor activity, leading to improper gene expression and cancer.
A new UK study sheds light on the effects of benzopyrene exposure on human cells, revealing new insights into DNA repair mechanisms and their connection to cancer development. The research suggests that understanding these mechanisms could help predict individuals more susceptible to cancer-causing agents.
A team led by Dr. Katherine L. Nathanson has been awarded $5.4 million to continue researching the genetic risk factors of testicular cancer, which affects men aged 15-45 in the US and Europe. The study aims to identify novel susceptibility genes and provide data for surveillance of high-risk individuals.
Researchers identify lysine acetylation as key regulator of Pif1 helicase, a protein involved in genome stability and cancer. The study's findings could lead to more targeted cancer therapies by fine-tuning drugs to target specific enzymes.
Researchers have identified silent ancient DNA elements in our genome that, when reactivated, stimulate the immune system to fight cancer. The discovery of ADAR1, an enzyme used by cancer cells to evade detection, opens up a new field of cancer therapies.
Researchers developed a novel epigenomic approach to detect pancreatic cancer in its early stages using blood draws, identifying distinctive patterns in thousands of genes that serve as biomarkers. This technology has the potential to lead to more timely treatment and improved patient survival.
Scientists at Cold Spring Harbor Laboratory discovered the intricate details of the Origin Recognition Complex (ORC), a crucial protein in human genome replication. ORC changes shape dramatically as it assembles around DNA, with parts twisting and pinching to interact with the molecule.
A team of researchers identified specific therapeutic targets for adenosquamous cancer of the pancreas (ASCP), a deadly form of pancreatic cancer. The study used multiple analysis methods to identify mutations and genomic variants, including FGFR signaling and RORC, which could be targeted by existing drugs.
Scientists at Cornell University's veterinary college have identified the genetic drivers of ovarian cancer, a deadly disease that kills more women than any other cancer. The study reveals that ovarian surface stem cells are more susceptible to mutations, while certain genes can inhibit cancer initiation.
Researchers found widespread imbalances in chromosomal gains and losses between cells taken from different parts of tumors, indicating ongoing evolution and selection for preferred traits. This high-level variation was observed across all tumor types analyzed, with some regions showing mirrored subclonal allele imbalance.
A new database of 40 breast cancer cell lines will help speed the development of new gene-targeted therapies by providing genomic and proteomic information. Researchers aim to identify functional genes that drive cancer growth and develop targeted therapies based on unique gene changes in each patient's cancer.
Researchers from IRB Barcelona have identified 568 cancer driver genes, play specific roles in cell growth regulation, DNA replication, and more. These genes confer malignant cells rapid reproduction, immune evasion, and invasive capabilities.
A study found that younger and female patients accumulate more cancer-causing genetic mutations, making them less visible to the immune system. This selective pressure leads to poorer response rates to immunotherapy.
A recent study published in Nature Genetics analyzed genomic differences between HPV strains causing cervical cancers, revealing distinct characteristics and implications for prognosis. The researchers identified specific patterns associated with aggressive cancers, highlighting the need for further studies on African populations.
Blocking TLKs triggers alternative telomere lengthening system, activating innate immune system and potentially attracting immune cells to combat cancer.
Scientists at IRB Barcelona have discovered a new type of hypermutation called mutation fog, which generates hundreds of mutations in every cell and accumulates in critical genome regions. This process is linked to normal DNA repair and APOBEC enzyme activity, suggesting it may be a major source of cancer mutations.
Researchers discovered that almost 20% of patients with unexplained intestinal polyps had tumors with mutations similar to those caused by colibactin, a bacterial toxin. Regular tooth brushing may have prevented the bacterial infection that triggered these cancer-causing DNA mutations.
Researchers developed a computational algorithm to analyze noncoding mutations across five major pediatric cancers. The study identified 1,137 structural variants affecting over 2,000 genes, highlighting their potential as cancer-causing mutations.
The National Lung Matrix Trial, the world's largest precision medicine clinical trial for NSCLC, matches treatments to genetic changes in cancer. It found that targeted therapy is challenging due to genomic complexity and the need for more sophisticated models.
New research published in Developmental Cell shows that an overabundance of protein PRC1 disrupts genome errors linked to cancer. The protein acts like a viscous glue during cell division, precisely controlling the speed at which two sets of DNA are separated as a single cell divides.
A new study shows that genomic mutation testing using the Idylla automated system can reduce wait times for test results from 15 days to just 5 days. This allows patients to begin treatment for colorectal cancer sooner.
Scientists discovered that DNA lesions caused by chemicals are passed on unrepaired, leading to complex patterns of mutations. This phenomenon, known as lesion segregation, can drive tumor growth and development.
A team of scientists has discovered key factors controlling the genome maintenance and replication of KSHV, a virus responsible for lymphatic vascular cancer. The study reveals that two central proteins regulate gene expression on DNA, supporting tumor formation and representing new therapeutic targets.
The UAP56/DDX39B protein removes DNA-RNA hybrids from the genome, ensuring correct gene expression and genomic integrity. Researchers at the University of Seville discovered this key function, highlighting the protein's importance in maintaining genome stability.
A study led by Dr. Dharam Kaushik found that the Nox4 protein is associated with high-grade kidney cancer progression and poor survival rates in patients. The research also identified a subgroup of patients who progress rapidly, making them ideal candidates for future targeted therapy studies.
A new predictor for brain cancer patients' life expectancy has been developed using a genome-wide pattern of DNA copy numbers. The pattern identifies patients who survive for a median of three years, three times longer than those without it.
Researchers have identified a new breast cancer gene, RBBP8, that may explain why some young women develop the disease. The study found that mutations in this gene can lead to cancer by damaging DNA and increasing the risk of genetic variants.
Researchers found that ancestry affects variations in hundreds of genes, but most significant differences are tissue-specific. The study analyzed data from 10,678 patients across 33 cancer types, revealing specific organ and tissue-type associations.
Researchers found that cells protect themselves from mechanical stress by not only deforming cell nuclei but also softening the genetic material itself. This mechanism helps prevent DNA damage and disease, including cancer. The study also reveals that healthy stem cells are more resistant to mechanical stretch than cancer cells.
A new study suggests a single cell division error can trigger a cascade of mutational events, generating defining features of cancer genomes. Researchers recreated the BFB cycle in cultured cells and observed an increase in chromothripsis after aberrant chromosome bridge formation.
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.