Articles tagged with Cancer Genome Sequencing
The study validates a comprehensive genomic profiling assay, NeXT Dx, which detects single nucleotide variants, indels, copy number alterations, and gene fusions. The assay demonstrates high analytic sensitivities and specificity, providing personalized recommendations critical to clinical decision-making.
Researchers identified common bladder cancer-related mutations across species, including TP53, FAT1, and NRAS in cats, and ARID1A and KDM6A in dogs. This study provides insights into human MIBC and aids understanding of bladder cancer biology across species.
Researchers found that specific regions of the genome with unique features act as hotspots for mutation accumulation in human cancer. Certain mutational signatures linked to alcohol consumption accumulate in early-replicated genome segments, defying conventional understanding.
Researchers have identified a neoplastic fusion transcript RAD51AP1-DYRK4 in luminal B breast cancer, associated with higher ki67 expression and aggressive clinical characteristics. MEK inhibitor trametinib may be effective in blocking the MEK-ERK signaling driven by this fusion.
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.
The GEMINI blood test uses machine learning to identify cancer-causing mutations in single molecules of cell-free DNA. The test detected over 90% of lung cancers, including stage I and II cases, in a proof-of-concept study published in Nature Genetics.
The Multidisciplinary Molecular Tumour Board (MTB) has been shown to improve treatment response rates for patients with advanced solid cancer, with 64% of patients benefiting from the MTB-guided approach. The board provides a systematic precision oncology strategy for treatment selection, combining expertise in multiple disciplines.
Researchers at MD Anderson Cancer Center have engineered a new model of aggressive renal cell carcinoma, highlighting molecular targets and genomic events that trigger chromosomal instability. The loss of interferon receptor genes plays a pivotal role in allowing cancer cells to become tolerant of chromosomal instability.
A study by CNIO Breast Cancer Clinical Research Unit shows that genomic sequencing panels are beneficial in 5% of patients, increasing treatment efficacy and patient survival. The use of these panels is recommended for patients with metastatic lung, colon, or melanoma cancer, or those participating in clinical trials.
The SWOG Cancer Research Network will present 30 abstracts at the ASCO 2023 annual meeting, highlighting primary results from trials S1011, S1826, S1714, and S1929. Additionally, analysis from the S1609 DART trial will be shared publicly during the meeting.
Researchers at USC Norris Comprehensive Cancer Center have identified a biomarker, CX3CR1, that can predict which patients with non-small cell lung cancer will respond well to chemoimmunotherapy. Elevated levels of the biomarker in T-cells after six to nine weeks of treatment indicate long-term benefits from the combination therapy.
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.
Researchers used long-read sequencing to identify novel mutational patterns and complex genomic rearrangements in cancer genomes, including those associated with liposarcoma. This approach offers a more comprehensive understanding of DNA mutations and their impact on cell function.
A recent study analyzed 7,301 metastatic breast cancer patients with MTAP loss, revealing younger age, higher TNBC cases, and BRCA1 mutations. The findings also suggest potential therapeutic agents targeting PRMT5 and MTA2 in MTAP-deficient cancers.
A new study links genetic changes in kidney cancer to patient outcomes, identifying four groups of patients based on mutation presence. This research may lead to more effective prediction of recurrence risk and personalized treatment for thousands of patients annually.
Researchers have developed a new DNA sequencing method, Chem-map, which can precisely map where drugs bind to the genome. The technique enables detection of small molecule-genome interactions and provides insights into how life-saving drugs work in cancer treatment.
Researchers at Children's Hospital of Philadelphia developed ESPRESSO, a new computational tool that can accurately discover and quantify RNA molecules from error-prone long-read RNA sequencing data. This will enable better diagnosis of rare genetic diseases and discovery of potential therapeutic targets in cancer.
Researchers have identified the genetic secrets behind skullcap's anti-cancer activity, enabling the production of synthetic compounds. The discovery is expected to lead to more sustainable and rapid synthesis of cancer-fighting molecules.
Researchers at the University of Wisconsin-Madison have developed a machine-learning model that detects cancers at an early stage by analyzing fragments of cell-free DNA in plasma. The technique, which uses readily available lab materials, distinguished people with any stage of cancer from healthy individuals 91% of the time.
Researchers developed a new technique to analyze frozen tumor specimens, enabling the study of rare cancers and unique patient histories. This breakthrough increases the number and variety of tumor samples available for scientific analysis.
G-Quadruplex DNA structures play a crucial role in regulating genes and cell processes, but their visualization is challenging due to the dynamic nature of double standard DNA. Fluorescence-active small molecule probes have emerged as a real-time visualization method, enabling researchers to detect G-quadruplexes with high selectivity.
Researchers used WGS data of 10,585 people from China to construct the first blood virological profile of the Chinese population. The study identified 14 viruses widely present in the population, including hepatitis B virus, which was detected in 1.69% of individuals.
Researchers at the Salk Institute have identified mechanisms that activate oncogenes in cancer cells, providing insights into predicting and treating the disease. The study found that structural variants in DNA can impact gene expression, leading to cancer, but most variants have no effect.
NUS researchers have developed a low-cost, non-invasive cancer testing method that sequences clinical samples heated to isolate cancer-specific signatures in patient blood. The Heatrich-BS assay has high sensitivity comparable to gold standard CT scans and costs around US$35 from start to finish.
Researchers from Trinity College Dublin analyzed ancient DNA from two men with multiple osteochondromas, a rare genetic disease, and identified new mutations in the EXT1 gene. This study is the first to discover a new disease mutation in ancient genomic data.
Research on Fanconi anemia reveals its link to aggressive head-and-neck tumors due to gene-copy chaos, increasing the need for new treatments. The study also highlights a connection between smoking and drinking and elevated cancer risk.
Researchers have discovered that targeting a specific mutation in fibrolamellar tumors can reduce tumor growth in mice, offering a promising approach to treating this nearly incurable cancer. The findings highlight the potential for novel therapies against an intractable disease.
Mayo Clinic researchers identified critical genomic changes associated with abiraterone acetate/prednisone resistance in advanced prostate cancer. An 11-gene drug panel predicted a worse prognosis for a subset of patients, and whole-exome sequencing data revealed mechanisms of acquired resistance.
Researchers have identified genetic signatures explaining ethnic differences in prostate cancer severity, particularly in African men. The study found a new prostate cancer taxonomy and cancer drivers that predict life-threatening cancers, providing a critical key to understanding the disease.
Researchers have constructed a comprehensive map of CLL genetic changes, providing a better understanding of the complex malignancy. The study identifies key genes and subtypes with distinct prognoses, paving the way for more accurate diagnoses and personalized treatments.
Researchers analyzed genomic data from 44 women with germline PTEN mutations who developed breast cancer and compared it to sporadic breast cancers. They found that PTEN and PIK3CA were the most frequently somatically mutated genes in PHTS-associated breast cancers, indicating that somatic mutations in PTEN drive these cancers.
A new study uses machine learning models to predict cancer patients' responses to immunotherapy based on their gut microbiome features. The research identifies common gut bacterial taxa associated with responders versus non-responders, providing a potential tool for distinguishing and predicting immunotherapy responders.
Researchers developed a two-step approach using whole exome sequencing to predict which patients respond to cancer immunotherapy. The study identified six genes, including KRAS and BRAF, that are enriched in patients who responded to treatment.
Researchers have identified 42 genes related to 15 different cellular mechanisms that affect the risk of different types of somatic mutations. This comprehensive study may help explain cancer predisposition and potentially personalize prevention programs and cancer treatments.
A new computer model has been developed to rapidly scan cancer genomes and identify harmful driver mutations that contribute to tumor growth. The model, trained on genomic data from various types of cancer, found additional mutations in 5-10% of patients that could help doctors identify more effective treatment options.
Scientists have identified 21 common DNA faults that occur in cancer, which can guide doctors to targeted treatments. The AI algorithm, inspired by Netflix's content recommendation system, categorizes genomic data to predict cancer behavior and outcomes.
A new genetic study published in Nature Genetics found that roughly one in five invasive breast cancers following ductal carcinoma in situ (DCIS) are genetically unrelated to the original DCIS. The findings provide a deeper understanding of DCIS biology and suggest that DCIS should be considered a risk factor for the development of inv...
A Memorial Sloan Kettering Cancer Center study uses comprehensive sequencing to identify at least one additional cancer-associated oncogenic variant in 54% of pediatric patients. The approach refines analysis to be accomplished in a few days, making precision medicine more inclusive for rare cancers.
A study by Osaka University found that fat accumulation in liver tumors can predict patient response to immunotherapy. The researchers identified a unique tumor immune microenvironment, known as steatotic HCC, which is associated with high infiltration of immune cells but exhaustion of nearby T cells.
Researchers developed a digital subtraction technique to identify viral DNA in tumor samples, achieving comparable results to standard clinical methods. The study discovered novel associations between specific tumors and viruses, warranting further investigation.
The program aims to increase trained cancer researchers in Tanzania and prepare them for HIV-associated cancer diagnostics, genomics, and therapy. It will focus on molecular detection, epidemiology, and biology of common HIV-associated malignancies.
A recent study published in Neuro-Oncology found that genomic profiling led to more aggressive patient management resulting in improved clinical outcomes compared to traditional biologically matched historical cohorts.
The largest study of its kind analyzed over 12,000 NHS cancer patients' genetic make-ups to detect patterns in DNA mutations that provide clues about cancer causes. Researchers identified 58 new mutational signatures, suggesting additional causes not yet fully understood.
Levi A. Garraway is being honored for his groundbreaking contributions to cancer research, including the identification of melanoma genes and development of precision oncology approaches. He has also championed parallel sequencing as a definitive approach to tumor genomic profiling, revolutionizing cancer treatment strategies.
The American Association for Cancer Research (AACR) announced its newly elected class of Fellows of the AACR Academy, recognizing distinguished scientists who have propelled innovation and progress against cancer. The 2022 class consists of 33 luminaries from various scientific disciplines.
A clinical trial found that genomic sequencing enabled 107 patients to receive matched therapy, increasing treatment options for those experiencing cancer relapse. The study identified previously unknown mutations and showed promise for using circulating tumor DNA to identify targetable alterations.
Scientists developed a powerful new tool called Giraffe to improve genomic research by leveraging global genetic diversity. The tool allows for the use of a diverse pangenome reference point, enabling faster and more sensitive comparisons of short-read human genome sequences.
Moffitt researchers have identified key genomic alterations and potential therapeutic targets in transformed cutaneous T-cell lymphoma. The study, which analyzed 56 patient samples, found high tumor mutation burden and UV mutation signatures associated with survival outcomes. The research also uncovered novel therapeutic vulnerabilitie...
Scientists have developed a new therapy called CINDELA, which employs CRISPR-Cas9 to kill cancer cells while leaving normal tissues intact. The treatment targets specific mutations found in cancer cells and induces cell death through DNA double-strand breaks.
Researchers at Mayo Clinic Cancer Center developed a machine learning algorithm that integrates genetic data from over 5,000 patients to predict patient benefit from chemotherapy and immunotherapy. A 32-gene molecular signature was identified, providing prognostic information and predicting patient response to immunotherapy.
A genome study found significant variation in human ribosomal RNA (rRNA) genes based on geographic ancestry, particularly in the 28S rRNA segment. This discovery suggests that these variants may be important for understanding cancer development and functionally assessing their impact on ribosome functions.
USC researchers will use $18.5 million funding to study colorectal cancer in Hispanic patients, aiming to close the gap in understanding the disease and developing effective treatments. The project aims to improve patient engagement in genomic research and develop culturally relevant educational materials.
A comprehensive genomic analysis reveals the genetic basis of neuroendocrine carcinoma of the gastrointestinal system, a rare cancer that is highly resistant to treatment. The study identifies key biological processes underlying the development of the disease, including structural variants, methylation events, and gene fusions.
The study used multigene sequencing to identify genomic alterations in patients with metastatic breast cancer. Patients with genomic alterations ranked as ESCAT I/II saw improved progression-free survival with targeted therapies matched to their genomic changes, while those without these alterations did not benefit from the treatment.
A new study published in The American Journal of Human Genetics found that 76.3% of participants who received actionable genomic results were unaware they carried increased risk variants, even though half met clinical criteria for genetic testing. Comprehensive sequencing revealed previously missed variants, emphasizing the need for mo...
A phase 2 clinical trial shows durvalumab immunotherapy combined with standard chemotherapy significantly improved overall survival for patients with previously untreated malignant pleural mesothlioma. The study's findings provide insights into patient selection methods for this novel chemo-immunotherapy regimen.
A pilot study reveals that whole genome sequencing can refine diagnoses and provide new treatment options for children with cancer. The study found genetic variants that could change prognosis or suggest hereditary causes of the cancers, as well as treatments that may be effective but were not previously considered.
The grant aims to engage patients, survivors, and their genomes in studying rare cancers, such as cholangiocarcinoma and multiple myeloma. Researchers hope to develop strategies to improve care for underserved communities.
Dr. Neil Hayes, MD, and Katherine A. Hoadley, PhD, will extend the Cancer Genome Atlas (TCGA) research for five years using a $1.8 million National Cancer Institute grant. The project analyzes cancer genetics and therapeutics to better understand patient responses to treatments.
Silent mutations, which don't change protein sequences, hold diagnostic value in predicting cancer types and patient survival. The study analyzed over 10,000 cancer genomes and found that combining information from silent and non-silent mutations improved classification and prognostication up to 17% and 5%, respectively.