Articles tagged with Cancer Genomics
Scientists at The Wistar Institute have discovered a potential target for gastric cancers associated with the Epstein-Barr Virus. Decitabine treatment disrupts the cancer's epigenetic profile, reactivating the lytic cycle of the latent EBV and leading to cell death.
A large-scale international collaborative study has identified new genes associated with breast cancer, which could lead to better risk prediction and improved clinical management. The study found evidence for at least four new breast cancer risk genes, with many others showing suggestive evidence.
A promising molecular diagnostic tool uses a single biomarker to detect primary bladder cancer in patients with hematuria, showing high sensitivity and accuracy. The noninvasive test offers advantages such as shorter turnaround time and efficient analysis of results.
A new study revealed that people in the UK have facial skin with more DNA damaged from the sun than those in Singapore, leading to a higher risk of developing keratinocyte skin cancers. This is despite lower UV light exposure levels in the UK.
A new clinical practice resource provides valuable information for healthcare professionals caring for individuals with pathogenic variants in the CHEK2 gene. The resource assesses personalized risk estimates based on family history, specific variant, and other factors.
Professor Coppedè's appointment aims to enhance the journal's focus on cutting-edge genomics research, covering topics like genome sequencing and functional genomics. He will lead Current Genomics to greater success by staying at the forefront of genomics discoveries and advancements.
A new study reveals that preoperative hydroxyprogesterone administration can improve disease-free and overall survival in patients with node-positive breast cancer by modulating cellular stress response and negative regulation of inflammation. Non-coding RNAs, such as DSCAM-AS1, play a regulatory role in this process.
A team of researchers has identified a unique genetic signature in CAR T-cells that enables them to persist in the body for a longer time, leading to improved remission rates for children with leukaemia. This discovery provides a new understanding of why some CAR T-cells last longer and can help improve treatment outcomes.
The PanDrugs2 programme analyzes alterations in tumour genes, relates them to existing available drugs, and reports on the most suitable ones. It handles data on over 4,600 genes and 14,600 chemical compounds, generating information on around 74,000 associations between drugs and genes.
Researchers have developed a polygenic risk score for colorectal cancer, which can estimate an individual's likely disease risk and identify those who may benefit from earlier screening. The score can also help determine more appropriate ages to start screening based on genetic risk.
Researchers used machine learning to build predictive models for nine common diseases based on genetic information and blood biomarkers. Blood biomarkers provided better prediction in nearly all cases, especially for near-term risk, suggesting direct links between some measures and the pre-symptomatic phase of disease.
The nucleus is metabolically active and uses antioxidant enzymes to repair DNA damage. Cells relocate mitochondrial machinery to the nucleus in response to DNA damage, highlighting a paradigm shift in cellular biology.
Researchers found that L1 jumping genes can be widely activated in normal cells, leading to the accumulation of genomic mutations over time. The study highlights the critical role of epigenetic changes in regulating L1 jumping gene activity.
Researchers have identified three subtypes of ovarian high-grade serous carcinoma (HGSC) based on genomic changes, which may help tailor therapies. The study's findings could improve treatment outcomes for patients with this aggressive subtype.
Two NYGC research teams have been selected as grant recipients under the NIH Common Fund SMaHT Network. The first team will generate a high-quality somatic variant catalog leveraging three core sequencing assays, while the second team will develop innovative tools for studying somatic mosaicism using a single-cell multi-omics approach.
Two contagious cancers, devil facial tumour 1 (DFT1) and 2 (DFT2), affecting Tasmanian devils have been tracked to understand their origins and evolution. Researchers found DFT2 is a faster-growing cancer with rapid mutations, posing a significant threat to the species.
Recent studies have highlighted the importance of tumor microenvironment in developing and controlling triple negative breast cancer progression. Researchers suggest that technological advancements like genomics and epigenomics hold promise for overcoming TNBC's current limitations.
A recent study identified novel genes that influence PARP inhibitor response in prostate cancer, including MMS22L and RNASEH2B. The research found that loss of CHEK2, a previously approved biomarker, confers resistance to PARP inhibition, highlighting the need for comprehensive genomic analysis to improve treatment decisions.
OncoMerge uses genetic data to analyze tumor activity and predict future changes. The software detects abnormal gene fusions and mutations affecting protein expression and gene copy numbers, improving the accuracy of cancer modeling predictions.
Breast tumor microbes vary significantly among women of different ethnicities, with potential implications for personalized care and disease progression. Researchers identified distinct microbial biomarkers associated with genes involved in tumor aggressiveness and immune response.
Researchers identified high expression of glypican-1 in primary solid tumors, correlating with poor prognosis in various cancer types. Suppression of GPC1 attenuated cancer cell proliferation, suggesting its potential as a novel diagnostic tool and target for therapy.
A new study from PetDx shows OncoK9 performs similarly to its landmark clinical validation study in real-world settings, detecting 26 types of cancer in high-risk dogs. The test also provides peace of mind for veterinarians and families by detecting cancer in over 94% of negative cases.
Researchers developed a novel machine-learning algorithm that analyzes a person's entire transcriptome to create an 'atlas' of pediatric cancer. The platform refines cancer diagnoses for 85% of pediatric cancer patients, identifying 455 subtypes of cancer and revealing subtle differences within subtypes.
A recent study published in JNCCN found that the lack of genomic research for people with African ancestry is hindering efforts to reduce disparities in prostate cancer outcomes. The researchers evaluated molecular genetic results for 113 Black South African men diagnosed with advanced prostate cancer, identifying 17 pathogenic and pot...
A new urine gene test can detect genetic mutations in urine that predict bladder cancer up to 12 years in advance of clinical symptoms. The test was trialled on over 50,000 participants and showed promising results, suggesting its potential for early detection and reduced unnecessary invasive procedures.
Researchers identify the minimum contribution of TACC3 for FGFR3-TACC3 fusion protein activation, revealing a novel target for treating FGFR translocation-driven cancers. The study shows that clinically identified FGFR3-TACC3 fusion proteins differ in biological activity depending on specific breakpoints.
A study found that BRCA1 mutations increase the risk of malignant mesothelioma caused by asbestos exposure. People with this genetic defect are more susceptible to tumor growth due to impaired ferroptosis defense mechanisms.
A recent study published in JAMA Oncology found that Black women with early-stage, estrogen receptor-positive breast cancer are more likely to experience higher mortality rates due to both social determinants of health and tumor biology. The research analyzed data from 60,137 women between 2004-2015 and discovered that these factors co...
A new machine learning model combines fusion gene profiling, serum PSA level, and Gleason score to predict prostate cancer recurrence with improved accuracy. The model outperformed clinical data alone and provided valuable insights into the mechanism of disease progression.
Researchers at the University of Copenhagen have discovered a new mechanism, called H2A-H2B mediated epigenetic memory, that helps cells preserve their information and functionality during division. This discovery could lead to new treatments for cancer and aging by modulating cellular processes.
The study validated the clinical utility of Strata Oncology's proprietary pan-solid tumor predictive biomarker, Immunotherapy Response Score (IRS), which predicts response to checkpoint inhibitor therapy. IRS captures tumor biology and microenvironment by combining tumor mutation burden with quantitative expression of PD-L1, PD-1, ADAM...
Researchers found that arginine levels are limited in human cancers, prompting cancer cells to manipulate proteins to take up the amino acid. Starving cancer cells of arginine may lead to mutations that make them more recognizable to the immune system.
Researchers developed a computational analysis method to detect and identify somatic SVs in leukemia patients, gaining insights into molecular consequences and potential therapies. The approach enables understanding of individual somatic mutations and may lead to targeted treatments.
A Geisinger study found that genomic screening can help detect medullary thyroid cancer (MTC) in patients with RET gene variants. The research evaluated 75 patients who had the genetic results, and 12 were found to have cancer after undergoing surgery. Genomic screening provides opportunities for early detection and treatment of MTC.
Researchers have created a genetic map to identify important genes causing sarcoma, a common childhood cancer. The study found that one in 14 individuals with sarcoma carries a clinically significant gene, offering hope for earlier diagnosis and treatment.
A study of 184 grade I and II meningiomas found associations between specific tumor mutations and increased or decreased recurrence rates. Mutations in ATM and CREBBP were linked to accelerated recurrence, while POLE mutations showed protective effects, highlighting potential targets for intervention.
A multidisciplinary team reviews genomic test results and recommends treatment options for patients with gastrointestinal cancer, identifying clinical trials suitable for most patients. The program has been successful in providing expert treatment guidance for over 500 patients and can be a model for other cancer centers.
The study found that methylation of the HLA-A gene and focal deletions resulted in reduced immune cell activity against cancer cells, leading to fewer immune cells being available to attack cancer cells. The researchers also discovered differences in immune cell response between various sites of metastasis.
A comprehensive study of childhood leukemia's genetic diversity provides insights into personalized therapy. Researchers identified distinct groups based on drug sensitivity profiles, which significantly impact prognosis.
Researchers identified two broad categories of MPNSTs based on their molecular makeup, one of which has a higher number of immune cells and tends to be more survivable. This discovery may lead to new treatment approaches for NF1 patients with MPNSTs, including immunotherapy and genetic testing.
A new method, SPOTS, maps gene activity patterns and protein presence in cells across tissue samples with unprecedented resolution. This enables the creation of complex maps of organs, including diseased ones, which could be widely useful in basic and clinical research.
A recent study found that the APOBEC3G enzyme can cause numerous mutations in bladder tumor cells, leading to increased malignancy and mortality. The research suggests that this enzyme could be a potential target for cancer treatment strategies.
A new software developed by researchers at Cold Spring Harbor Laboratory can accurately infers continental ancestry from tumor DNA and RNA. This technology has the potential to lead to more targeted and personalized cancer treatments by identifying genetic connections between cancer and race or ethnicity.
The Association for Molecular Pathology (AMP) published a report assessing the clinical adoption, classification inconsistencies, and implementation barriers of the 2017 guidelines for sequence variant interpretation and reporting in cancer. The study found that 86% of participants correctly differentiated clinically significant varian...
The National Cancer Institute awards $10.5 million to USC's Division of Biostatistics to develop statistical methods for uncovering new risk factors associated with cancer by integrating large volumes of health, genomic, and exposure data. The project aims to provide new insights into complex biological processes and discoveries of nov...
A new study explores the value of 'trash data' from cancer genome sequencing, identifying new strategies to uncover previously unexplored information. The researchers found that genomic and transcriptomic data contain relevant information that can help elucidate carcinogenesis and discover putative biomarkers with clinical applications.
Researchers discovered MYC protein spheres protect sensitive DNA sites from enzyme collisions, leading to cancer cell death. The discovery opens doors for developing specifically effective drugs to prevent sphere formation.
Researchers identified USP7 as a novel cyclin F-interacting protein that stabilizes cyclin F protein. The study also found that USP7 regulates cyclin F mRNA, with pharmacological inhibition resulting in downregulation of cyclin F mRNA.
UVA researchers developed a new tool to analyze genetic data, reducing noise and bias in cancer diagnosis. The tool uses mathematical modeling to identify patterns in chromatin, helping scientists detect tiny numbers of disease cells.
Researchers have characterized the functional significance of DDX41 in molecular processes underlying cancer. The study reveals that DDX41 serves crucial functions in transcriptional processes, RNA splicing, and genomic integrity maintenance, which may hold significance in treating hematopoietic malignancies.
Researchers at La Jolla Institute for Immunology discovered a direct link between TET protein loss of function and missing genes in embryonic stem cells, which can lead to cancer growth. The study found that TET proteins are crucial for maintaining genome stability, and their loss results in aneuploidies, a common feature of cancer cells.
The study found that BRAF alterations, particularly Class I mutations like v600E, are associated with improved overall survival in adults with glioma. However, the effectiveness of targeted therapies depends on the specific type and combination of genetic alterations driving the cancer.
A new Northwestern Medicine study identifies common and rare gene mutations that impact radiation resistance and sensitivity. This information will allow clinicians to better calibrate radiation doses based on genetic mutations, improving treatment efficacy while reducing toxicity.
A large multi-center study analyzing patient records from three major cancer centers found that ILC is detected later and has worse outcomes than IDC. The research highlights the need for new imaging technologies to improve early detection of ILC, which often spreads beyond breast tissue before diagnosis.
Researchers at the University of South Australia are using new technologies to speed up blood cancer diagnosis and treatment. The project aims to identify genetic variants that cause cancer, enabling clinicians to provide targeted treatments and improve patient management.
Researchers have discovered how a common blood stem cell mutation, DNMT3A R882, alters gene activity and produces abnormal blood cells that increase cancer risk. The study found that the mutant cells produce more red blood cells and platelets, leading to higher cardiovascular disease risks.
African American men are twice as likely to have more aggressive disease compared to non-African American men. Genomic biomarker tests like the Decipher score can identify patients with higher-risk disease, enabling tailored treatment approaches.
Researchers developed a new mathematical technique to analyze cell nucleus organization, revealing self-sustaining transcription clusters that play a key role in maintaining cell identity. This understanding may expose vulnerabilities for targeting cancer cells and reprogramming them to stop uncontrollable cell division.
A new method using machine learning corrects damaged DNA and unveils true mutation processes in tumour samples, helping early cancer detection and accurate diagnosis. The tool predicted over 90% of developing cancer processes, offering a significant advancement in cancer patient care.
Researchers at UVA have discovered the mechanism behind gene regulation during organ development, shedding light on how genetic material interacts with transcription factors to create different cell types. The study's findings could offer insights into the initiation of certain cancers and inspire new therapeutic development.