Articles tagged with Cancer Genomics
Mary-Claire King has been recognized by ASHG for her tireless advocacy on using genetics to help people and families worldwide. Her lab has helped reunite 130 families through mtDNA sequencing, and her work with the UN Forensic Anthropology Team has identified victims of extra-judicial execution.
Researchers developed a method to detect genes under selection and found essential cancer genes and immune-exposed protein regions under significant negative selection. This challenges the exclusive role of positive selection in cancer evolution.
The American Society of Human Genetics (ASHG) recognizes Dr. Andrew Adey's contributions to cancer development and progression research. His novel single-cell technologies are being used worldwide to understand epigenetics and disease models.
Scientists discovered that mitochondria and nuclear genomes co-evolved to independently cross-regulate each other. This understanding could lead to greater insights into aging and disease, as well as new treatments based on mitochondrial DNA.
Research reveals that ancient American dogs disappeared rapidly following the arrival of Europeans, leaving little genetic signature in modern American dogs. A close relative of these dogs lives on as a transmissible cancer, with its genome mirroring that of the original dog.
Researchers found a cancerous tumor that has been present in modern American dogs for thousands of years, tracing it back to ancient dog populations that arrived with early humans. The study suggests catastrophic events may have led to the sudden disappearance of these early canines.
A new computational strategy using Bayesian analysis and CRISPR/Cas9 screening technology has identified 29 genetic changes contributing to rhabdomyosarcoma, a common childhood cancer. The study suggests potential treatments for the disease and provides a general approach for identifying oncogenic drivers in other cancers.
Researchers at Cincinnati Children's Hospital Medical Center found that a protein called AMPK drives aggressive and deadly brain cancers like glioblastoma. Blocking AMPK may produce therapeutic benefit for patients with few treatment options. Additional research is needed to translate the findings into patient care.
Scientists at the University of Sheffield have discovered an enzyme called UCHL3 that regulates DNA repair and may hold promise in improving treatment for chemotherapy-resistant cancers. The findings also suggest a link between UCHL3 activity and brain ageing, which could impact memory, cognitive function, and learning.
A collaborative effort has discovered molecular features of testicular germ cell cancers, identifying potential mutations and other molecular changes. The study found signs of duplicated DNA and defects in DNA methylation, which could inform future efforts to improve treatment decisions and help monitor patients for cancer recurrence.
Researchers identified four survival strategies in childhood cancer cells: tolerance, coexistence, competition, and chaos. These strategies are associated with varying outcomes, with increased risk of relapse seen in competition and chaos variants.
Scientists discovered that altered cohesin SA2 variant influences gene expression and favours loss of differentiation in tumour cells. The two cohesin variants have distinct functions, with SA1 involved in topological domains and SA2 regulating gene expression through local chromatin loops.
A research group has developed a new technique to study the behavior of p53 conformers, which are prone to forming amyloid aggregates that contribute to cancer development. The approach allows researchers to observe these conformers before they aggregate, providing potential tools for understanding and blocking their formation.
Scientists create cell models with specific DNA repair gene defects, allowing them to identify genomic scars associated with these defects. These scars can serve as biomarkers for molecular characterization of tumors and improve personalized cancer treatment.
Researchers used human and C. elegans data to understand the mutational causes of cancer, finding a resemblance between nematode worms and human cancer genomes. They discovered DNA mismatch repair deficiencies in both species, providing insights into the causes of cancer and potential treatment avenues.
Researchers analyzed genomic and molecular data from 33 cancer types and identified 28 molecular clusters. The study provides new insights into cancer classification and potential treatment options.
Researchers discovered that some cancers are genetically similar, despite originating from different organs, and grouped them into new subtypes. The study's findings support an additional cancer classification system, which could lead to improved treatment options for patients.
Researchers have discovered five previously unknown cancer subtypes among others, using a comprehensive analysis of 2,579 tumors from breast and gynecologic cancers. The study identifies shared and unique molecular features, clinically significant subtypes, and potential therapeutic targets.
Researchers have developed a new classification system for cancer based on molecular characteristics, identifying 28 subtypes and improving treatment options. The new approach has the potential to revolutionize cancer diagnosis and patient care.
A groundbreaking cancer genomics study reveals new molecular classifications, enabling the re-classification of 33 tumor types into 28 distinct clusters. These findings hold promise for immune-based and other novel cancer therapeutics, as well as repurposing drugs used to treat other diseases.
Researchers identified nearly 200 mutations in non-coding DNA that play a functional role in cancer, providing potential molecularly targeted therapeutics. These mutations could represent new targets for cancer drugs and may help explain the diversity of genetic mutations in tumors.
Research at Huntsman Cancer Institute found that estrogen and glucocorticoid receptors work together to promote more aggressive endometrial cancers. The study suggests that corticosteroids, a stress hormone, can make the uterine lining stop growing but may also contribute to tumor growth when combined with high estrogen levels.
Scientists successfully use ultrasound to propel gold nanowires carrying the Cas9-sgRNA complex across cell membranes, enabling targeted gene knockout. The system is simple and requires minimal payload, making it a promising therapeutic approach for cancer treatment.
A team of computer scientists has developed a new system to rapidly determine which cancer drugs are likely to work best given a patient's genetic markers. eGARD, the first publicly available system of its kind, can match genetic signatures with outcomes with 95 percent precision.
Researchers at Sanford Burnham Prebys Medical Discovery Institute have made a groundbreaking discovery that may advance neural stem cell treatments for brain disorders. The study reveals how an mRNA modification impacts the life of neural stem cells, and how it regulates histone modifications to maintain their self-renewal.
A comprehensive dataset of cancer cell metabolites has been compiled, showing consistent increases or decreases in certain metabolites across multiple tumor types. The study's findings offer insights into the metabolic programming between normal and cancer cells, with potential applications for novel therapies.
Researchers from Instituto de Medicina Molecular found that TERRA, a functional component of telomeres, must be constantly regulated to prevent telomeric and chromosomal instability. This study sheds light on the molecular basis of genome stability and may pave the way for new therapeutic approaches.
The UC Santa Cruz Genomics Institute's Treehouse Childhood Cancer Initiative has received a $500,000 grant to conduct a 24-month registry study evaluating the effectiveness of comparative RNA-seq analysis in pediatric cancer treatment. The project aims to assess the impact on clinical decision-making and patient outcomes.
Researchers found that nearly half of neuroblastoma samples had gene loss or imbalance in DNA damage response-associated molecules located on chromosome 11. PARP inhibitors, commonly used for ovarian cancer treatment, showed promise as a potential therapeutic approach for targeting childhood cancer.
New research from the University of Bristol demonstrates that cells use F-actin to reshape their nucleus and reorganise their genome after cell division. This process is essential for life, but was poorly understood until now.
A research team from Columbia University has developed a molecular taxonomy for hair disorders, which will help diagnose diseases affecting the hair follicles. The taxonomy was created by analyzing more than three million data points and identified nearly 5,000 biological terms shared by groups of hair genes.
Researchers at UVA Cancer Center are developing a tool to assist patients in making treatment decisions based on their tumor's genomic information. The tool aims to provide personalized comparisons of treatment options, incorporating factors like age, personal priorities, and health conditions.
Scientists demonstrate that Leishmania adaptation results from frequent and reversible chromosomal amplifications, which enables the parasite to maintain genetic diversity while selecting for new alleles. This study has important consequences for understanding human Leishmania infection and identifying parasite drug resistance mechanisms.
Researchers have elucidated the role of HP1 proteins in relation to chromatin structure and genome stability. The study shows that different HP1 isoforms play distinct roles in regulating chromatin domains.
Researchers at Cardiff University have developed a new method of engineering T-cells to attack cancer using CRISPR genome editing. This breakthrough enhances the T-cells' ability to recognize specific cancer cells and destroy them, offering new hope in the fight against various types of cancers.
Researchers from the University of Seville studied a specific type of chromosomal break generated by enzymes called DNA topoisomerases. They found that this mechanism prevents the formation of aberrant chromosomal structures called translocations, which are linked to some types of cancer.
A new study found that precision medicine for oncology is less precise for people of Latin American, African, and Asian ancestry due to the lack of diverse genetic population data. A computational tool called LumosVar was created to help researchers sort out potentially inaccurate results and improve precision medicine.
Researchers have developed a comprehensive genomic sequencing approach that guides timely treatment for recurring brain cancer, resulting in extended progression-free survival. Two patients survived over a year without disease recurrence, demonstrating the potential of precision medicine in aggressive and refractory tumors.
A major study identifies 72 new genetic variants that contribute to the risk of developing breast cancer, bringing the total number of known common variants to around 180. These variants are found in regions regulating gene activity and differ from those involved in other diseases.
Researchers at UC San Diego found mutant p53 amplifies inflammatory responses in cancer cells, increasing invasive behavior and tumor growth. Chronic inflammation plays a crucial role in predisposition and progression of human cancers like colon and breast cancers.
Researchers identified effective treatments for patients with rare cancers through genomic analysis, resulting in stabilization, shrinkage, or remission for half the patients. Precision medicine offers new hope for managing these uncommon but significant cancers.
GA4GH has struck formal collaborations with 15 international genomic data initiatives, including Genomics England and the U.S. All of Us Research Program. The goal is to create framework and standards for responsible sharing of genomic data by 2022.
The collaboration aims to establish a PDX Data Commons and Coordinating Center to integrate and share PDX treatment data for research. This will enhance precision in measuring drug-response and provide a clinical trial roadmap for piloting treatments.
A Penn study suggests that DNA 3D packaging controls which genes are available for activation, influencing cell differentiation. The researchers found that tethering DNA to the nuclear periphery with an epigenetic enzyme contributes to a cell becoming a certain type.
Julia Oh has received a $2.8 million NIH grant to explore engineered probiotic treatments for skin diseases. Her research aims to harness the skin microbiome to create new therapeutics.
A study by University of California San Diego School of Medicine researchers reveals that a simple blood test can predict which patients will respond to checkpoint inhibitor-based immunotherapies, with 45% of patients showing significant response. The findings suggest that patients with high numbers of genomic alterations in their tumo...
A multi-institutional research center has been awarded by the NIH to study ME/CFS, a debilitating disease affecting millions of Americans. The research aims to understand and develop treatments for this complex condition by analyzing patient data and microbiome changes.
A new genomic profiling study has identified genetic alterations in 96% of brain tumors in children, including genes that can be targeted with specific treatments. The study found distinct patterns of mutations between low-grade and high-grade gliomas, which could lead to more effective treatment options for these patients.
The Association for Molecular Pathology (AMP) has awarded prestigious honors to Drs. Andrew P. Feinberg, Gregory J. Tsongalis, and Alexis B. Carter for their outstanding contributions to the field of molecular diagnostics. AMP President Federico A. Monzon praised the award recipients for their decades of service to the society.
A recent study found that nearly one in four small tumours were aggressive and patients benefited from chemotherapy. Researchers identified a 70-gene signature to detect aggressive tumours.
Researchers analyzed 9,000 proteins in bowel cancer cells to identify networks driving the disease. The study found that proteins can predict drug responses and suggests personalized medicine for patients.
A University of Colorado Cancer Center paper describes a mechanism linking viral infection and cancer caused by APOBEC3 enzymes, which are part of the immune system's response to viruses. The research suggests that targeting these enzymes could prevent or treat certain types of cancer.
A study has identified a genetic signature linked to defects in the DNA damage repair-genes BRCA1 and BRCA2 in breast cancer. The researchers found that this signature is not exclusive to BRCA mutations but also indicates other ways of deactivating the DNA repair mechanism, offering new insights into breast cancer treatment decisions.
Ouyang aims to decipher RNA structure's role in post-transcriptional regulation, providing insights into health and diseases. He plans to develop a precise genomic blueprint for clinical diagnoses and prognoses, as well as new therapies for cancer and other diseases.
The Human Pathology Atlas analyzes human genes in all major cancers, revealing patterns that influence patient survival. The atlas provides a powerful tool for personalized medicine, with potential applications in lung and colorectal cancer.
A new study found that sharing personalized melanoma genomic risk information with relatives and friends can lead to increased discussions about skin cancer prevention. The study suggests that this process could encourage healthy behavior change within families.
Researchers discovered dozens of new genes involved in resistance to immunotherapy treatments for cancer patients. The study used a novel CRISPR technique to examine genetic mutations in cancer cells and their interactions with the immune system.
The Treehouse Childhood Cancer Initiative has made a comprehensive tumor database available for researchers to use in the fight against childhood cancer. The database contains RNA-Seq gene expression data and demographic information, covering over 11,000 cases of pediatric cancer.
Researchers found that black women are more likely to have aggressive breast cancer subtypes, such as basal-like and HER2-enriched tumors. The study suggests that genomic testing could help explain the disparity in survival rates between black and white women with breast cancer.
Researchers found that age is the most strongly associated breast cancer risk factor with normal breast DNA methylation differences. The study characterized molecular differences in healthy tissues that may contribute to cancer risk, providing insight into how epigenetic dysregulation contributes to breast cancer.