Researchers identified a protein that broadly regulates mRNA editing, enabling the creation of multiple proteins from a limited number of genes. This discovery may help understand genetic mechanisms of diseases and identify new therapeutic targets.
A national poll shows that only 35% of respondents would seek aggressive preventive treatment if they had a family history of cancer and genetic testing indicated a predisposition to cancer. Despite current laws prohibiting discrimination, concerns about employment and insurability remain a major barrier to genetic testing.
Researchers at the University of Edinburgh identified shugoshin as a critical protein in ensuring accurate cell division. The study found that disabling shugoshin led to increased abnormal chromosome numbers, highlighting its importance in preventing aneuploidy and potentially cancer.
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Scientists have found that people carrying mutations in BRCA2 and PALB2 may be more susceptible to DNA damage caused by acetaldehyde, a byproduct of alcohol metabolism. This could accelerate cancer growth and increase disease risk.
Researchers found that ANP32E strips histone H2A.Z from DNA, altering gene expression and leading to improper chromatin structure in cells lacking the protein. This discovery could reveal novel therapeutic strategies for diseases and cancers.
Scientists at UC San Diego have developed a new genetic platform that enables efficient production of natural molecules, including a novel antibiotic compound called taromycin A. The study demonstrates the potential for this technology to unlock the drug discovery potential of countless new microbes.
A new study published in the Journal of Clinical Oncology found that telephone genetic counseling is comparable to in-person counseling. The study, led by Georgetown University Medical Center, involved 669 women and showed that phone counseling reduces costs and expands access to genetic testing for rural areas.
The Damon Runyon-Rachleff Innovation Award funds groundbreaking projects that aim to prevent, diagnose, and treat cancer. This year's recipients are Emily P. Balskus, Arvin C. Dar, Summer L. Gibbs, Xiaolin Nan, Moritz F. Kircher, and Eirini Papapetrou, who will receive $450,000 over three years for their innovative ideas.
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Researchers found that coevolution between humans and H. pylori bacteria reduced gastric cancer risk in people of African descent, but not in Amerindian descent. The study suggests that the interaction between H. pylori and human ancestry influenced disease risk, with high African-strain infection leading to worse outcomes.
An international study has developed a refined method to identify people at risk for certain inherited cancers associated with Lynch syndrome. The study uses genetic data from thousands of variants identified worldwide to classify variants of unknown significance and improve genetic counseling for families.
Researchers have developed a DNA clamp that can detect genetic mutations in cancer with greater efficiency than current methods, paving the way for rapid screening and new nanotechnology tools. The technology uses triple helices to improve specificity and has potential applications in diagnostic tests and DNA-based nanostructures.
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Research found smoking changes genes associated with health problems like cancer and diabetes. Epigenetic modifications are likely caused by tobacco combustion, not substances in the tobacco.
A study published in Stem Cells reveals that bladder cancer originates from distinct stem cells for muscle-invasive and non-muscle invasive types. Genetic profiling identified specific gene signatures associated with each cell population, which predicted tumor stage and patient survival.
A Fox Chase Cancer Center study found that relatives of patients who undergo genetic testing often misinterpret the results, with over one-quarter reporting incorrect interpretations. This can lead to a lack of understanding about their own genetic risks and missed opportunities for cancer prevention.
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Researchers at Virginia Commonwealth University have identified a key gene interaction that could be harnessed to treat various cancers. The study found that forced expression of MDA-7/IL-24 stimulates SARI expression in an autocrine/paracrine loop, causing cancer cells to undergo apoptosis.
Lynch syndrome increases the risk of colon and endometrial cancers. Screening all endometrial cancers for this genetic mutation can lead to early detection and improved patient outcomes for women at high risk.
A new multi-gene test can identify breast cancer patients at high risk of developing aggressive triple-negative cancers. The test analyzes genetic signatures associated with poor prognosis, which may reveal potential targets for new drugs and therapies.
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Researchers at the University of Adelaide have discovered a gene that plays a crucial role in suppressing lymphoma, a type of blood cell cancer. Caspase-2 helps maintain healthy chromosome numbers in cells, preventing them from becoming cancerous.
A study led by CNIO confirms the therapeutic potential of inhibiting Aurora-A in cancer treatment, revealing an increase in dead and senescent cells and premature aging. The research proposes studying cell nucleus volume as a tool for evaluating anti-cancer drug efficiency.
A new study finds that 65% of Americans agree clinicians should be involved in explaining DTC genetic test results. This concern is shared by physician groups and medical journals, highlighting the importance of doctor guidance on interpreting genetic risks.
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A recent study from the University of Manchester found that tumor oxygen levels impact treatment response. By analyzing gene expression, researchers can predict which patients will benefit from hypoxia-reducing agents before radiotherapy.
Researchers have identified genes associated with brain aging, revealing a heritable basis for neurocognitive deterioration and decreased white matter integrity. The study used large pedigrees of Mexican Americans to disentangle genetic from non-genetic influences on aging.
A new technique called HaploSeq enables researchers to quickly determine which genetic variants occur together on the same chromosome and came from the same parent. This advance has direct implications for personalized medicine, improving organ donation matching and understanding human migration patterns.
Researchers discovered how Brachyury regulates the timing of gene expression in the notochord, a precursor to the backbone, and found that certain mutations can delay or alter this process, potentially leading to birth defects and cancer. The study sheds light on a crucial regulatory mechanism in embryonic development.
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Genetic mutations in two families with eating disorders were found to be linked to decreased estrogen-related receptor alpha and histone deacetylase 4 activity, increasing the risk of developing an eating disorder. CHST3 mutations also led to early-onset lumbar disc degeneration.
A major study has disproven the theory of a viral cause for breast cancer and glioblastoma, with over seven billion DNA sequences analyzed. The research found no genetic traces of viruses in these forms of cancer, contradicting previous theories suggesting Epstein-Barr virus and cytomegalovirus involvement.
Research reveals an inherited genetic defect in the interleukin-10 (IL-10) pathway is associated with a higher risk of developing certain types of blood cancer, such as diffuse large B-cell lymphoma, in infants and children. The study suggests that chronic intestinal inflammation may play a role in cancer development.
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A new tool called the HARM score reliably measures quality and clinical outcomes for colon and rectal surgery patients. The score is calculated from routinely captured data elements and has a strong correlation with the quality of clinical outcomes.
Duojia Pan received the Paul Marks Prize for Cancer Research for his groundbreaking work on cell signaling pathways and organ growth. His research has led to a deeper understanding of the Hippo pathway, which regulates tissue growth in animals.
A recent study found that inherited human herpesvirus 6 in telomeres can lead to unstable viral genomes and increased risk of reactivation. This research has significant implications for transplant patients who are often immunosuppressed, highlighting the need for screening donors for this inherited form of HHV-6.
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A survey of young women with breast cancer found many overestimate the benefits of prophylactic mastectomy, despite knowing it has little impact on survival rates. The study suggests that improving risk communication and addressing anxiety are crucial to helping patients make informed decisions.
Researchers discovered that over 70% of bladder tumours display somatic mutations in the TERT gene, a protector of genetic material involved in cellular ageing and cancer. The study suggests that these mutations may occur early in the carcinogenesis process, with potential implications for diagnosis and treatment.
A team of researchers has discovered a genetic mutation specific to risk of childhood leukemia, providing a potential window into inherited causes. The PAX5 gene mutation was found in several family members with childhood acute lymphoblastic leukemia (ALL), increasing the risk of developing the disease.
The National Cancer Institute has renewed a five-year, $11.3 million grant to support research on thyroid cancer at The Ohio State University Comprehensive Cancer Center. The study focuses on four integrated projects to better understand genetic pathways and signaling in epithelial thyroid cancer.
A case study published in the Medical Journal of Australia reveals that life insurance companies have made incorrect risk-assessment judgments based on genetic information. The authors call for a more collaborative approach between industry, government, and researchers to address these issues.
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Researchers at the University of Hawaii Cancer Center discovered that higher consumption of fruits and vegetables may reduce the risk of invasive bladder cancer in women. The study found significant associations between increased intake of yellow-orange vegetables and lower bladder cancer risk among female participants.
A genetic variant linked to a cell's internal clock has been associated with myeloma, a common type of blood cancer. The study identified four new genetic variants linked to myeloma, bringing the total number to seven.
Researchers identified protein biomarkers that predict ovarian cancer recurrence and chronic obstructive pulmonary disease (COPD) development. The findings suggest a potential for using protein analysis to predict patient outcomes and guide treatment decisions in both diseases.
A new biomarker, PROVAR, predicts time to ovarian cancer recurrence and distinguishes between high-risk patients. Analysis of protein biomarkers may help determine treatment plans for ovarian cancer patients.
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Melanoma patients with a BRAF gene mutation may be at risk of developing secondary cancers due to activated tumor growth pathways. Researchers suggest combining BRAF-inhibitor therapy with other inhibitors to prevent paradoxical activation and emergence of secondary malignancies.
Researchers at Moffitt Cancer Center identified four genetic variants associated with increased risk of death in non-small cell lung cancer patients. These variants also indicate a greater risk of death if treatment plans include surgery without chemotherapy compared to those with chemotherapy following surgery.
Researchers at Michigan State University found that genetic background affects the outcomes of interactions between genetic mutations about 75 percent of the time. This discovery has huge implications for understanding how genes interact with each other, and may help explain why some people respond differently to treatments.
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Researchers used single-cell RNA sequencing to track the genetic development of a human and mouse embryo at an unprecedented level of accuracy. The technique could lead to earlier and more accurate diagnoses of genetic diseases, even when the embryo consists of only eight cells.
Scientists have identified a novel gene, mda-9/syntenin, as a potential therapeutic target for bladder cancer. The study showed that the gene helps regulate bladder cancer growth and metastasis, making it a promising target for detecting and monitoring the disease.
A groundbreaking study reveals that nearly 340 genes on the X chromosome contribute to sperm production, surprising scientists who once viewed it as a stable and unchanging chromosome. The research, published in Nature Genetics, uses advanced sequencing methods to assemble the first accurate reference sequence of the human X chromosome.
Researchers are studying the evolution and biology of human pregnancy, genetic factors contributing to preterm birth, and racial disparities in preterm birth rates. The study aims to identify potential targets for further research and address environmental factors such as drinking or smoking.
Research by UCLA mathematician Marcus Roper reveals that fungus cells use a dynamic movement of nuclei to keep them well mixed, benefiting the organism's infectiousness. The flow is propelled by pressure gradients across the colony, optimizing nuclear mixing for maximum advantage.
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A new study found that DNA abnormalities, specifically clonal mosaic events, are more common in people with type 2 diabetes than the general population. This increase in CMEs may partly explain why individuals with type 2 diabetes have a higher risk of blood cancers like lymphoma and leukaemia.
Researchers at IDIBELL and ICO aim to study pathogenicity of variants in DNA repair genes MSH2 and MSH6. The funding will improve molecular diagnostics of Lynch syndrome, enabling better risk assessment and prevention measures.
Researchers at H. Lee Moffitt Cancer Center have developed a new method to rapidly identify genetic changes in small protein fragments unique to melanoma cancer cells. The approach harnesses tumor-infiltrating lymphocytes, which have been shown to reduce cancerous lesions and improve outcomes.
Researchers from NYU-Poly and NYU have received a grant to study histone modification, a key process in gene regulation. The study aims to understand the precise mechanisms of histone acetyltransferases (HATs), which are associated with diseases like cancer and diabetes.
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Researchers found that 30% of people with colorectal cancer did not act on genetic screening results, missing the diagnosis of Lynch syndrome. This study assesses the impact of routine screening for Lynch syndrome and highlights the importance of individuals taking action on test results.
A genetic rogue element known as chimeric transcript LCT13 is linked to the silencing of a tumor suppressor gene TFPI-2, promoting cancer invasion and metastasis. The study suggests that 'junk DNA' can interfere with normal cell function, providing new insights into cancer progression.
A new measure of genetic diversity within tumors has been found to predict treatment outcomes in patients with squamous cell carcinoma of the head and neck. Higher levels of genetic heterogeneity were associated with shorter overall survival, and the relationship was seen across different risk groups.
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A new paper in Science pushes back against recent recommendations from the American College of Medical Genetics and Genomics, arguing that returning genetic incidental findings without patient consent violates basic human rights. The authors urge patients' autonomy to remain firmly in place as science advances.
Scientists at Texas Biomedical Research Institute have identified four genes (TENC1, ERBB3, ACVR1B, and DGKA) that influence levels of low-density lipoprotein (LDL) cholesterol. This discovery could lead to the development of new drugs to reduce heart disease risk in humans.
Researchers at Walter and Eliza Hall Institute discover that p53 protein can prevent cancer formation even without regulating cell death or division after DNA damage. The study sheds new light on the complex functions of p53, which was previously believed to have a straightforward role in preventing cancer.
A study found genetic loci associated with H pylori seroprevalence through genome-wide association studies and meta-analysis. Genetic testing for H pylori susceptibility outside of research projects is premature due to the current approach's limitations.
A novel high-throughput screening method has identified agents that can block EZH2 methyltransferase, a key enzyme in tumor development. This approach uses AlphaLisa technology to detect methylation and accelerates the identification of small molecule inhibitors for cancer treatment.
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A major international study has found that sequence differences in a gene crucial to chromosome integrity predispose individuals to certain cancers. The study, published in Nature Genetics, identified variations in the TERT gene as influencing telomere length and breast and ovarian cancer risk.