Articles tagged with Cancer Genetics
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A new technique using deep mutational scanning has identified important mutations in the MSH2 gene associated with Lynch Syndrome, a major cause of hereditary non-polyposis colorectal cancer. This approach could improve predictive value of genetic screening for individuals at risk of developing colorectal cancer.
A recent study by University of Utah Health researchers has identified a genetic collaborator that influences the severity of the rare disease NGLY1. The gene NKCC1 moderates disease severity, with its interaction with NGLY1 affecting various bodily functions, including tear production and fluid balance.
Researchers have developed a new integrated genetic/epigenetic DNA-sequencing protocol called MultiMMR that can identify mismatch repair (MMR) deficiency in a single test. This alternative to complex testing workflows determines causes of MMR deficiency often missed by current clinical tests.
A large international consortium has identified nine genes that increase breast cancer risk, which can now be used to personalize follow-up and screening programs. The study analyzed 113,000 samples and confirms the importance of these genes in predicting breast cancer risk.
A phase 2 clinical trial using a personalized treatment approach found increased survival rates among patients with metastatic tumors in gastroesophageal cancers. The study used genetic profiling to tailor treatments, resulting in a 66% one-year survival rate and a median survival time of 15.7 months.
The INTERVENE project aims to develop novel genome-based disease prediction tools using advanced AI approaches on genomic and health data. The project will test these tools in clinical settings for cardiovascular diseases, type 2 diabetes, and breast cancer.
A new study reveals that people with a genetically weakened skin barrier are more susceptible to faster uptake of common chemicals, increasing the risk of skin diseases and cancer. Researchers screened 500 participants in Sweden, finding twice as high doses of pesticides in those with the mutation.
University of Missouri scientists have discovered a genetically modified strain of salmonella that can target and kill prostate cancer cells, while leaving normal tissue intact. This breakthrough could lead to the development of personalized treatments tailored to individual patients' unique cancer characteristics.
The University of Ottawa has earned 10 Canada Research Chairs covering various subjects, including stress impacts on brain functions, Indigenous traditional cultural memories, and emerging computing technologies. The chairs will support innovative research approaches to advance knowledge and solve global challenges.
Researchers at UCLA have discovered a gene called PACS-1 that is overexpressed in cancer tissues, which can lead to cancer growth and spread. Higher levels of PACS-1 expression in the nucleus may indicate resistance to chemotherapy and radiation treatments.
A recent study suggests that a unique human genetic mutation may contribute to the high risk of advanced cancers, with approximately 30% of people still producing dysfunctional Siglec-12 proteins. These individuals are at twice the risk of developing advanced cancer compared to those who cannot produce the protein.
African American childhood cancer survivors are at a higher risk of developing cardiomyopathy, with genetic variants on chromosomes 15q25.3 and 1p13.2 identified as key factors. The study has implications for long-term follow-up and surveillance of these patients.
Researchers have developed a new method for deploying CRISPR/Cas9 directly into target cells using metal-organic frameworks (MOFs) coated with green tea phytochemicals. This approach has the potential to reduce costs and increase safety compared to existing viral methods, which are currently the only approved methods in trial globally.
The study analyzed national health record data to examine the rate of positive BRCA gene variant tests among older women. Between 2008 and 2018, the trend in positive results varied by age group, with younger women showing a higher increase in positivity.
Research suggests that genetic predisposition to increased weight is causally protective for breast and prostate cancer. Heavier women are less likely to develop breast cancer due to additional differences between groups, while heavier men are less likely to develop prostate cancer, particularly when exposed to carcinogenic substances.
A recent study published in eLife found that statins may lower overall cancer risk by inhibiting HMGCR enzymes, potentially through non-lipid lowering mechanisms. The research used genetic variants from UK Biobank and suggested a possible link between statin therapy and reduced cancer risk.
A study of over 260,000 people found that genetics play a key role in sun-seeking behaviour, making it more challenging to address excessive sun exposure. The research identified five genes linked to behavioural traits associated with risk-taking and addiction.
Researchers have found that specific DNA variants can affect the response to interferon-alpha-based treatments, leading to personalized therapy options. The discovery may improve treatment outcomes for patients with polycythaemia vera, a rare chronic malignant blood disease.
Researchers found that women who deliver preterm or extremely preterm have a higher risk of dying from any cause, with 1.7-fold and 2.2-fold increased risks compared to full-term deliveries. The excess deaths associated with preterm delivery persist for up to 40 years after birth.
Scientists at Japan Advanced Institute of Science and Technology developed a novel chemotherapeutic agent using nanotechnology and genetic engineering. The agent, called photothermogenetics, targets cancer cells with high potential and effectively regulates cancer stemness.
A targeted therapy called rucaparib has been successfully used to treat men with advanced prostate cancer who have mutated BRCA1/BRCA2 genes. The treatment resulted in a 41% objective response rate and improvements in prostate-specific antigen levels for over half of the patients.
Scientists at TU Wien have explained DNA's unusual behavior under tension using a unique combination of civil engineering and physics. The study reveals that DNA can twist more than expected when stretched, with significant consequences for biology and medicine.
Research suggests that a genetic variant common in people of East Asian descent may make them more susceptible to adverse responses to e-cigarettes. The study found that mice with this gene had significantly higher heart rates and increased oxidative stress when exposed to e-cigarette aerosols compared to those without the gene. These ...
A new study shows that community-based genetic screening can identify individuals at increased risk for three common inherited conditions, including Hereditary Breast and Ovarian Cancer, Lynch Syndrome, and Familial Hypercholesterolemia. The study found that up to 90% of carriers were not previously identified in a clinical setting.
Researchers at UCLA Jonsson Comprehensive Cancer Center identified a phenomenon where some patients' T cells lose expression of transgenic TCR over time, potentially due to DNA methylation. This study aims to inform the design of future cellular immunotherapies and improve treatment outcomes for advanced cancer patients.
Researchers have identified a rare mutation of the TP53 gene that leaves individuals at a higher risk of developing multiple types of cancer over their lifetime. This mutation is most commonly found in the Ashkenazi Jewish population and may confer a lower lifetime risk compared to classic Li-Fraumeni syndrome.
Researchers have developed a novel immunotherapy using genetically modified natural killer cells to target and kill cancer cells in glioblastoma multiforme, a highly aggressive brain tumor. The treatment approach has shown high efficiency and is considered safer than other cell-based therapies.
A comprehensive study of lung cancer in non-smokers found that the disease is biologically distinct from smoking-related cases. Genetic changes vary depending on age and sex, with young women showing particular patterns that drive aggressive cancer progression.
Brooke Emerling receives a four-year grant to study targeting tumors with p53 gene mutations, which are present in most human cancers. Her research aims to develop new approaches to eliminating cancer as a major health problem.
A study led by the University of Hawai?i Cancer Center reveals that genetic mutations can make individuals more susceptible to cancer upon exposure to environmental carcinogens. The research highlights the importance of identifying gene-environment interactions in cancer prevention and early detection strategies.
A study published in The Lancet found that aspirin reduces colorectal cancer risk by half in genetically predisposed individuals, with preventive efficacy lasting 10-20 years. The CAPP2 trial showed that daily aspirin doses of 600mg reduced cancer risk compared to placebo.
Key recommendations from the Philadelphia Prostate Cancer Consensus Conference include performing genetic testing for all men with metastatic prostate cancer and those with a family history of hereditary cancers. Recommended genes for testing include BRCA2, BRCA1, and DNA mismatch repair genes. Genetic testing is also recommended to in...
A recent study published in Nature Communications reveals the Unfolded Protein Response (UPR) regulon, a comprehensive list of genes activated to promote cell survival under stress. The researchers discovered that changes in one-carbon metabolism, relying on vitamin folate as a cofactor, contribute to chemoresistance in cancer cells.
A UK-first pilot study has shown that genetic screening for prostate cancer can safely identify undiagnosed cases in approximately one-third of otherwise healthy men. The study involved testing for 130 DNA changes and found that population screening was effective at detecting new cancers in this high-risk group.
Researchers found that pregnancy reduces breast cancer risk by reprogramming breast cells to tuck away the potent cancer gene cMYC and keep them in a state of pre-senescence. This protective mechanism may provide new insights into future cancer treatment and help identify risk before tumors develop.
A new epigenetic editing tool has been developed to activate silenced genes by removing DNA methylation labels. The tool uses CRISPR and a plant enzyme called ROS1 to guide the removal of these marks, allowing researchers to reactivate silenced genes.
Researchers at the University of Texas Health Science Center at San Antonio identified key drivers of tumor plasticity, a phenomenon where cancer cells change their behavior to evade treatments. The study found that targeting these genetic signals could increase therapy effectiveness and potentially cure more cancers.
The human genome's complexity hinders personalized medicine by having an immense ability to change and cope with issues, context matters in our genome. Researchers conclude that precision medicine is crucial but must consider the full genomic blueprint including 'unnecessary' elements.
A recent study found that nearly 1% of the population carry genetic variants substantially increasing CVD and cancer risk. However, relying on family history alone may fail to identify high-risk individuals, highlighting the need for broader genetic testing populations.
A UCLA-led research team has developed a new method for delivering DNA into stem cells and immune cells safely, rapidly and economically. The technique uses high-frequency acoustic waves to manipulate cells and insert cargo without damaging them, enabling the creation of gene therapies for various diseases.
Bayreuth geneticists have discovered a natural protective mechanism that leads to the programmed death of potentially diseased cells. The separase enzyme plays a central role in this process and can be re-purposed to induce apoptosis in cancer cells.
A new study found that the effective population size of the first Samoans was small, ranging from 700 to 3,400 people, with population growth starting around 1,000 years ago. The research highlights the importance of population history and size in understanding health conditions such as obesity and diabetes.
A twin study conducted by Monash University researchers found that even low levels of air pollution can affect gene expression, leading to long-term health consequences. The study suggests exposure to air pollutants, even at low levels, has real-life implications for the current COVID pandemic.
A genetic variant in the MET gene has been identified as a driver of more aggressive growth in head and neck and lung cancers in Asians. The study suggests that targeting the variant may lead to improved disease outcomes through precision medicine.
Australian scientists have identified a motor protein called CHD4 that helps cells access DNA information when needed. The discovery provides insights into how defects in this process contribute to diseases such as schizophrenia and cancer.
Researchers found that structural changes in protein bundles called chromosomes affect access to genes in T cell acute lymphoblastic leukemia. The new work shows that altering the 3D architecture of chromosomes can trigger cancer growth and spread, making targeted therapy a promising approach.
A recent NIH study has found that a significant proportion of children with osteosarcoma carry genetic variants associated with increased cancer risk. The researchers identified harmful or likely harmful variants in over a quarter of patients, highlighting the importance of genetic testing and screening for family members.
Researchers at Duke-NUS Medical School in Singapore have identified a common therapeutic vulnerability for a genetically diverse and deadly form of leukemia. The study reveals that the polycomb repressive complex plays a critical role in driving progression to blast crisis, a nearly always fatal stage of the disease.
A recent study reveals that the loss of protein MCL1 can drive cancer formation in the intestine, even without bacterial-driven inflammation. The research found that mice lacking MCL1 developed tumors and intestinal damage, similar to human cases with chronic intestinal inflammation.
A new genetic test can identify patients with multiple myeloma who are at 'ultra high risk' of their cancer progressing aggressively early on. These patients have poorer survival rates and are unlikely to benefit from lenalidomide alone, highlighting the need for alternative treatment approaches.
A recent study of over 4,500 postmenopausal women diagnosed with breast cancer found that about 1 in 40 have BRCA1 or BRCA2 gene mutations. These mutations increase the risk of other cancers, including ovarian cancer, and may benefit from genetic testing.
Research by German Cancer Research Center and Hebrew University finds that intestinal bacteria reprogram DNA activity in gut mucosa cells, controlling healthy gut development and inflammation. Demethylating enzymes TET2 and TET3 play a key role in this process.
A new study by West Virginia University researcher Nancy Lan Guo found that printer toner nanoparticles can change genetic and metabolic profiles, increasing disease risk. The study used rat models and found significant genomic changes linked to cardiovascular, neurological, and metabolic disorders.
A study at MD Anderson Cancer Center found that using MLN4924 and dual treatment with anti-PD1 can induce durable, curative responses in patients with MMR-deficient and MSI cancers. The therapy approach shows promise as a novel therapeutic vulnerability for this type of cancer.
A new study found that higher genetic testosterone levels increase the risk of type 2 diabetes by 37% in women and reduce it by 14% in men. Similarly, higher testosterone levels increase the risk of breast and endometrial cancers in women and prostate cancer in men.
A new study creates personalized cancer vaccines that amplify the effects of immunotherapy, curing mice with treatment-resistant tumors. Researchers used a molecule called APOBEC3B to drive rapid genetic changes in cancer cells, creating unique signatures vulnerable to immune checkpoint blockade.
Researchers estimate that there may be as many as 10 million people worldwide suffering from a rare disease, which is likely to hinder treatment development due to inconsistent and imprecise definitions. The study calls for a unified definition of rare diseases to improve care for patients and develop effective treatments.
Researchers analyzed over 23,000 human tumors and 1000 cancer cell lines to discover chromosome arm gains and losses can predict drug response better than genetic mutations. This finding has significant implications for personalized cancer treatments.
Research reveals frequent RB1 intragenic rearrangements in non-smoking patients with EGFR mutations, indicating higher resistance to EGFR inhibitors. The alteration may favor growth and tumoural versatility of resistant clones.
Scientists are exploring genetic changes that make brain tumors resistant to BRAF inhibitors, a common treatment for certain types of brain cancer. The study aims to identify new potential targets for combination therapy to keep cancers from developing resistance.