Articles tagged with Cancer Genome Sequencing
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 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.
PLOS Medicine features five studies outlining novel strategies for detecting cancer and identifying minimal residual disease. Researchers discuss innovative approaches, including plasma cell-free DNA sequencing and urine tumor DNA detection, to distinguish between benign and malignant tumors.
A study found that half of individuals who initially refused to receive secondary genomic findings changed their minds after receiving more detailed information. The research suggests that healthcare providers should give patients multiple opportunities to make and revise their choice.
A study by St. Jude Children's Research Hospital demonstrates the power of comprehensive whole genome, whole exome and RNA sequencing to better understand and treat each patient's unique cancer. The research found that 86% of patients had at least one clinically significant variation in tumor or germline DNA.
A new algorithm, MMRDetect, identifies tumours with mismatch repair deficiencies that can be targeted by immunotherapies. The algorithm uses mutational signatures from genome sequencing data to personalize cancer treatments.
A new study shows whole genome sequencing is at least as accurate and often better than conventional genetic tests for determining blood cancer treatment. The study found that sequencing identified additional genetic abnormalities in 17% of cases, changing the risk category for 19 patients.
Researchers discovered that retroviruses in koala genomes contribute to elevated cancer rates, with infected cells containing multiple copies of the virus. The study highlights the detrimental health consequences of germline infection by retroviruses and underscores the need for conservation efforts.
A new software developed by Johns Hopkins University researchers can accelerate genetic testing and deliver diagnoses outside of labs. The technology reduces sequencing time from 15 days or more to just three days.
A new selective DNA sequencing method called ReadFish enables rapid analysis of human genomes, potentially leading to faster diagnosis of genetic conditions. This breakthrough could have major implications for understanding and treating diseases such as cancer.
A Case Western Reserve University researcher is working to enhance genomic privacy protections using a $1.2 million NIH grant. He plans to identify weaknesses in the genomic data sharing network and develop more complex algorithms to protect against potential threats.
Researchers developed a statistical model using genomic data to predict risk of developing oesophageal cancer in patients with Barrett's oesophagus. The model accurately identified high-risk patients years before diagnosis, allowing for early treatment and reducing unnecessary surveillance.
Researchers developed a new single-cell DNA sequencing method to analyze the genetic diversity of individual cells within a tumor. The study revealed at least four major sub-populations of cells that are expected to have mutated from the original cancer cell, providing important insights into how cancer progresses and spreads.
Scientists have discovered a common TP53-R337H variant among people of Brazilian descent that increases cancer risk when combined with an inherited XAF1 mutation. The study found individuals with both mutations are at a greater risk of cancer, highlighting the importance of genetic screening and public health approaches.
A study published in Journal of Clinical Oncology finds that combined effects of therapy and inherited mutations in DNA-repair genes increase the risk of developing subsequent cancers. The research uses whole genome sequencing to analyze DNA from blood samples of 4,402 pediatric cancer survivors.
Researchers discovered that catnip revived the mint family tradition by evolving a new iridoid production line, producing nepetalactone with unique chemical properties.
A new study highlights the need for a better data framework to reanalyze genetic data, which could improve diagnostic rates for rare diseases by up to 32%. The study found that current practices vary widely and raise concerns about laboratory and clinician responsibilities, as well as patients' ability to advocate for themselves.
Researchers at Nemours have identified new genetic structural variants in childhood leukemia that can help assess minimal residual disease during chemotherapy. This breakthrough could lead to more precise diagnosis and targeted therapies for kids with cancer, improving treatment outcomes.
Researchers successfully used CRISPR to make targeted cuts in human breast cancer genes, allowing for efficient sequencing of critical alterations. The technique has the potential to streamline cancer treatment selection and use of targeted therapies.
A massive genome analysis identified 179 genes and regulators as cancer 'drivers', but found that thousands of non-driver mutations, or 'passengers', can also contribute to cancer development and have a significant impact on genomic regions. These findings suggest that passenger variants can both hinder and promote tumor growth.
Researchers have cataloged genetic fingerprints of DNA-damaging processes that drive cancer development, providing clues to how each cancer develops. This list allows scientists to search for previously unknown chemicals and biological pathways responsible for causing cancer.
A recent study cataloged genetic fingerprints of DNA-damaging processes driving cancer development, providing clues on how each cancer developed. The research will help understand cancer causes, inform prevention strategies, and signpost new directions for diagnosis and treatments.
The study analyzed 3,000 cancer patients' genomes to identify common mutation patterns, revealing a significant role for structural alterations in gene expression. By integrating genome and transcriptome data, researchers gained insight into the complex interplay between DNA mutations and RNA alterations.
A comprehensive survey of viruses found within cancer cells reveals 23 different virus types in 356 patients, with Epstein-Barr and HPV viruses commonly linked to cancer. The study also identifies mechanisms by which viruses trigger carcinogenic mutations, providing potential avenues for vaccine development.
Researchers developed a new approach to detect bacteria and viruses associated with cancers. By sequencing genomic data from tumors, they can identify pathogens linked to diseases such as stomach cancer and cervical cancer. The method holds promise for developing new cancer vaccines in the future.
A multi-institutional team found that genomic structural variation alters DNA methylation across hundreds of genes, reducing global levels in human cancers. This study provides new insights into the mechanisms underlying cancer development and suggests potential implications for cancer immunotherapy.
A study published by TGen and Tufts University found that osteosarcoma in dogs shares many genomic features with human osteosarcoma, including low mutation rates and altered cellular pathways. This discovery could lead to the development of new therapies for both humans and animals affected by this deadly disease.
Researchers from HSE University used machine learning to discover that stem-loops and quadruplexes contribute to 20-30% of genome breakpoints in cancer, with varying impacts on different types of cancer.
Researchers found the same genetic change in five of six tumors, implicating a muscle gene in olfactory neuroblastoma. The deletions were found in the DMD gene, which codes for dystrophin, and may contribute to the formation of the cancer.
Researchers sequenced the genomes of human, canine, and equine mucosal melanoma tumours to identify key genes driving the disease. The study reveals genetic similarities between species, shedding light on why immunotherapies are ineffective for some patients with this rare type of cancer.
Researchers from St. Jude Children's Research Hospital present comprehensive genomic profiling data from the Genomes for Kids study, showcasing 79% of patients having somatic findings that guide clinical care. The study also highlights the role of germline variants in tumor formation and hereditary cancer predisposition syndromes.
Scientists discovered complex genetic rearrangements in Ewing Sarcomas that can take years to form, potentially leading to earlier diagnosis and treatment. These findings suggest that some childhood cancers may be detectable before they reveal themselves as disease.
Researchers identified six classes of genes that contribute to cancer resistance, including CDK4/6 inhibitors. Combining BET and CDK4/6 inhibitors completely stopped tumors from growing in preclinical experiments.
Scientists at Cold Spring Harbor Laboratory have published a detailed map of structural variations in breast cancer cells, revealing 20,000 genetic errors that disrupt cell growth and cause cancer's hallmark. The study sheds light on how cancer cells rapidly evolve and provides valuable insights for future research and clinical practice.
A new study found that structural rearrangements in regulatory regions can significantly alter gene expression in cancer. Researchers analyzed 1,448 cancer cases and identified hundreds of genes affected by these changes, surprising previous expectations.
Researchers at the Center for Genomic Regulation have developed a new statistical method to identify cancer predisposition genes from tumour sequencing data, identifying 13 candidate genes with 10 being new. The method allows researchers to find risk variants without comparing cancer patients to healthy groups.
A genetic mutation in FOS and its relative FOSB has been identified as a hallmark of osteoblastoma, distinguishing it from the more aggressive osteosarcoma. This discovery will enable clinicians to correctly diagnose osteoblastoma and direct appropriate treatment.
Scientists at the University of Birmingham are pioneering a new approach to bowel cancer treatment using mini tumor models. The study, funded by Cancer Research UK, aims to identify new treatments and improve existing ones for this common yet deadly disease.
Researchers have found that human papillomavirus 16 (HPV16) infections can have varying levels of cancer risk due to unique genetic variations. Studies revealed thousands of distinct HPV16 genomes in infected individuals, with some variants linked to increased carcinogenic potential.
A recent study using yeast genome sequencing reveals that only 20% of mutations drive cancer-like growth, while the rest are harmless hitchhikers. The research identifies genetic interactions between mutations that increase growth and proposes a new approach for identifying cancer-causing mutations.
Cancer genomics researchers found a significant association between PONDS-forming sequences and cancer. They discovered that short inverted repeats are enriched at translocation breakpoints in human cancer genomes.
A new genomic sequencing approach detected circulating tumor DNA at a high rate in 89% of patients, identifying genetic changes that can be matched to targeted therapies. The study found 73% of genetic changes in tumor samples were also detected in blood samples.
A genome sequencing study for rare parathyroid carcinoma has identified mutations in known cancer-related genes and pathways, providing a clear view of genetic mechanisms involved. This in-depth characterization could lead to the first therapy options for patients with this deadly cancer.
A recent study analyzing genome sequencing and epidemiologic data from 32 cancer types found that nearly two-thirds of mutations in these cancers are attributable to random errors. The researchers' approach offers a novel perspective on cancer development, highlighting the need for more research efforts focused on secondary prevention.
Researchers developed iCAGES, a computational tool that integrates whole genome-based approach to identify individual cancer driver genes and select treatment options. The tool was found to be superior in predicting cancer drivers and identifying beneficial treatments compared to other computational tools.
Researchers at Johns Hopkins University have developed a new bioinformatics tool to evaluate the accuracy of current methods for identifying cancer-promoting mutations. The study found that existing methods need improvement and shared their methodology publicly to aid others in developing more precise ways to target tumor growth.
A study by Lawson Research Institute has discovered that the Retinoblastoma protein works with EZH2 to silence repetitive DNA sequences, potentially leading to enhanced therapies for cancer and HIV. The research suggests that targeting these proteins could reveal viral hiding places in immune memory cells, allowing for new treatments.
A study identifies telltale genetic fingerprints associated with smoking tobacco, demonstrating that smoking increases cancer risk by causing somatic mutations. The research found over 20 mutational signatures linked to tobacco smoking, with some signatures elevated in cancers from smokers.
Researchers found thousands of genetic translocations in both healthy and cancerous mouse cells, highlighting the importance of considering individual genetic backgrounds. By using 'de novo assembly', scientists can compare a patient's cancer cells to their own healthy cells, reducing errors in translocation discovery.
Researchers found that microsatellite instability sites are linked to cancer progression and survival, with some types of cancer experiencing distinct patterns of mutation across their microsatellites. This discovery opens opportunities for new treatments and therapies.
Researchers at Lund University have identified two new subtypes of childhood acute lymphoblastic leukaemia using next-generation sequencing. These new subtypes, DUX4-rearranged and ETV6/RUNX1-like, represent about 10% of all childhood leukaemias and can now be distinguished from previously known types.
The Lions Kids Cancer Genome Project will provide whole genome sequencing and analysis for 400 children with high-risk cancer in Australia, enabling personalized treatment and potentially identifying genetic risk factors. The project aims to improve outcomes for children with childhood cancers and could lead to a global initiative to e...
The study uncovered five new genes associated with breast cancer and 13 new mutational signatures that influence tumour development. The analysis revealed the genetic variations in breast cancers and their distribution across the genome.
Researchers developed Monovar to analyze multiple single cells, detecting subtle DNA changes that can inform personalized medicine and cancer care. The method shows promise for diagnosing and treating various diseases, including pre-natal genetic diagnosis.
The iCat study successfully used clinical genomic sequencing to recommend therapy or diagnose changes in children with solid tumors. The findings support the use of personalized treatment based on tumor genetic characteristics, fueling potential drug development for pediatric and rare adult tumors.
Researchers identified new glioma subtypes by analyzing DNA methylation profiles in 1,122 adult glioma samples. These subtypes can help stratify patients more accurately and improve treatment protocols, with some subgroups displaying similarities to pilocytic astrocytomas and better patient survival.
The McDonnell Genome Institute will receive $60 million from the National Institutes of Health to study the genetics of common diseases. The research aims to uncover how differences in DNA contribute to disease risk, with potential benefits for improved diagnosis and treatment options.