Research on the genetic drivers of cancer. Covers childhood-cancer drivers, AI mutation detection, faster lymphoma diagnosis, and precision immunotherapy trials.
A multi-institutional study led by Mayo Clinic researchers has improved the accuracy of genetic testing for BRCA2 variants, enabling precise risk assessments and personalized treatment plans. The findings will aid in identifying patients who may benefit from targeted therapies such as PARP inhibitors.
Researchers analyzed individual cells from two craniopharyngioma subtypes to identify specific cell types, their features, and interactions. The study found distinct cell types linked to tumor development and immune response in both adamantinomatous and papillary craniopharyngiomas.
A study by Tulane University researchers found that tumors in female fruit flies grew 2.5 times larger than those in male fruit flies due to sex-based differences in immune response. The stronger innate immune response in females accelerated tumor growth.
The study analyzed DNA from over 100,000 participants and found that nearly 2,000 carried at least one genetic variant linked to these diseases. The findings have led to life-changing discoveries and new insights into personalized medicine.
A new mathematical model of prostate cancer has been developed, revealing key findings on genetic changes and tumour growth. The study shows that strong genetic changes are necessary for aggressive tumours to develop early in the course of tumour development.
A recent study from Uppsala University found that genetic variation in cancer cells can enhance the effects of an already approved cancer drug, talazoparib, against liver cancer cells lacking a functional CYP2D6 enzyme. This suggests a potential for more individually tailored and effective cancer therapies.
The National Comprehensive Cancer Network has updated its guidelines for genetic/familial high-risk assessment, incorporating the latest scientific research and expert recommendations to enhance screening practices and treatment options. The expanded guidelines cover various cancer types and provide guidance on genetic testing, heredit...
A new study found significant disparities in at-home test use among older adults, with those having a college degree or higher and higher incomes being more likely to use them. However, Black older adults were less likely to use these tests compared to other racial/ethnic groups.
A new NIH study finds that West African genetic ancestry is linked to increased prostate cancer risk among men living in disadvantaged neighborhoods, possibly due to chronic stress. The study suggests that neighborhood environment may play a role in determining how genetic ancestry influences prostate cancer risk.
A single-center cohort study identified substantial overall survival disparity among racial and ethnic groups, with socioeconomic status contributing less than a third of the disparity. Tumor molecular features also played a significant role in the disparities found in colorectal cancer survival.
Researchers at Huntsman Cancer Institute found that a chatbot can assist patients in deciding whether to pursue genetic testing, offering an alternative to traditional genetic counseling. The study demonstrated equally likely outcomes between the chatbot group and those receiving standard two-appointment model care.
A genetic variant in the Syntaxin 17 gene determines the speed of hair greying and susceptibility to skin melanoma in horses. The study found three gene variants at the Grey locus, with the G3 variant associated with a higher risk of melanoma.
Researchers unveil retrotransposon-derived DNA zip codes that enable myeloma cell internalization, shedding light on cancer evolution and treatment response. The findings highlight the potential of zip-code technology in improving patient outcomes and advancing human health.
The St. Jude gene panel is a cost-effective test that categorizes childhood malignancies and guides patient treatment by sequencing 0.15% of the human genome. The panel outperforms existing cancer gene panels, providing 90% coverage of pediatric cancer driver genes.
Researchers highlight DDX41's distinct contribution to myeloid neoplasms with germline predisposition. The discovery sheds light on unique pathogenesis and disease phenotype associated with DDX41 variants.
A Mayo Clinic study reveals that current genetic screening protocols fail to detect notable numbers of people carrying hereditary breast and ovarian cancer syndrome and Lynch syndrome mutations. The study identified 550 carriers of these mutations, with half being previously unaware of their risk.
Researchers found that bowel cancer cells can regulate their growth using genetic on-off switches, allowing them to maximize survival chances. The study also showed that DNA repair genes can be repeatedly created and repaired, acting as 'genetic switches' to control tumour growth or put the brakes back on.
Researchers at CeMM have identified a synthetic variant inspired by the Withanolides group that acts highly specifically against leukemia cells. The molecule disrupts the cholesterol metabolism of tumor cells.
Researchers have discovered that a rare liver cancer called fibrolamellar carcinoma is not caused by the fusion of two genes, but by the overexpression of a protein called protein kinase A. This finding has potential to reveal pathways for broad range of cancers and offer new treatment possibilities.
Researchers have discovered that a protein called MED12 plays a critical role in pancreatic cancer's development, particularly in basal-like cells. The study builds on decades of research at Cold Spring Harbor Laboratory, which previously identified the importance of p63 for basal cell formation.
A new study by a global consortium provides insight into how tumors evolve, shedding light on the intricate processes underlying cancer evolution. The findings define optimal algorithms to analyze tumor evolution, enhancing diagnostic accuracy and treatment planning.
Researchers discuss Ibrutinib, a BTK inhibitor approved for chronic lymphocytic leukemia treatment, noting 20-25% of patients experience dose-limiting cardiovascular toxicities. A recent study identifies genetic biomarkers, such as KCNQ1 and GATA4, associated with cardiotoxic events, which may improve risk stratification.
Pharmaceutical genomic testing can optimize drug dosages and minimize adverse events in treating metastatic prostate cancer. By understanding an individual's genetic variations, clinicians can tailor treatments more effectively.
The study highlights the importance of protease-activated receptors (PARs) in cancer growth and development, with PH-binding motifs identified as a key platform for drug design. The researchers suggest that targeting PARs could provide an alternative to current oncogenic pathways.
Researchers found a new pathway to cancer cell death led by the Schlafen11 (SLFN11) gene. This discovery could have implications for cancer treatment and patient outcomes.
Researchers found that ARID1A mutation renders tumors sensitive to immunotherapy by triggering an antiviral immune response. This could lead to improved patient outcomes and the development of targeted therapies.
Researchers warn of potential corporate uses of polygenic scores for risk assessment and business profits, highlighting the need for policy safeguards. Current laws and policies are inadequate to address ethical concerns surrounding the use of genetic data.
This study analyzed differentially expressed genes from three datasets to identify hub genes associated with gastric adenocarcinoma. The analysis revealed that genes such as ERBB4 and MAPT were linked to GC progression and had poor overall survival, suggesting potential therapeutic targets.
Breast cancer study reveals seven pivotal genes are upregulated in tumor tissues, indicating critical role in disease progression and poorer patient prognosis. In vitro validation supports overexpression of these genes in breast cancer, emphasizing their importance as potential therapeutic targets.
Researchers assessed swimming performance and survival under stress to evaluate the effects of three compounds on health and lifespan in Caenorhabditis. The study found complex relationships among median lifespan, oxidative stress resistance, thermotolerance, and mobility vigor.
The PRECEDE study found that nearly 80% of participants in the highest-risk cohort completed baseline imaging, highlighting the feasibility of improving early detection and prevention for pancreatic cancer. Researchers recommend sorting individuals into three groups based on family history and genetic mutations to tailor surveillance.
Researchers at Huntsman Cancer Institute discovered a surprising connection between male infertility and an increased risk of certain cancers in families. By analyzing genetic and public health data, the team identified 13 characteristic patterns that cluster similar things together, making it easier to uncover the reason behind a fami...
Researchers uncover how EBV infects host genome, leading to tumor formation and finding novel therapeutic targets. EBV-host interactions reveal epigenomic rewiring, dysregulated gene expression, and potential cancer treatment.
Researchers unveil innovative strategies to overcome metabolic constraints in CAR-T cell therapy, aiming to boost its efficacy in treating solid tumors. Metabolic interventions targeting immunosuppressive metabolites, metabolite uptake, and mitochondrial metabolism are proposed to enhance anti-tumor activity.
A genetic variant reducing IKZF1 expression increases B-cell ALL risk in Hispanic/Latino kids, with ancient DNA tracing its emergence ~13,000 years ago from Indigenous American ancestors.
Researchers have discovered a new immunotherapy approach to overcome resistant leukemia by targeting the mutated TP53 gene. Combining pharmacological therapies with genetically engineered CAR T-cells increases effectiveness against cancer cells, offering promising strategies for patients with resistant disease.
A new study from the University of Chicago analyzed DNA methylation in tissue samples from former smokers, finding evidence of the body's attempts to defend itself from tobacco smoke. The research team identified new regions associated with smoking and found that DNA methylation varies dramatically across cell types and tissue types.
A remote online genetic education program can motivate people with a family history of cancer to undergo genetic testing. In the GENERATE study, 90% of participants completed testing after receiving genetic education through an online program. The programs had no impact on anxiety or depression levels.
Researchers developed scSNV-seq to investigate genetic changes affecting gene activity and disease development. The technique accurately assesses the impact of thousands of DNA mutations in cells, providing crucial insights for developing targeted therapies.
A statewide genomic screening program enrolls first 20,000 participants, providing information on genetic risk factors for diseases such as hereditary breast and ovarian cancer. The program aims to empower communities to understand the value of research and increase participation rates among underrepresented groups.
Men with low sperm count or none have a higher risk of developing cancer, including at younger ages, compared to fertile men. Families of azoospermic men have a significantly increased risk of five cancers, while families of oligozoospermic men have a higher risk of colon, bone and joint, and testicular cancers.
Researchers optimized polygenic risk scores using ancestrally diverse genomic data to improve accuracy across diverse populations. The recalibrated tests provided a more accurate assessment of disease risk for individuals with varied ancestral backgrounds.
Scientists have discovered that pancreatic cancer hijacks the brain-building protein Engrailed-1, leading to faster and deadlier metastasis. By targeting this aberrant protein, researchers may be able to develop personalized therapies and slow cancer progression.
A study published in Oncotarget has identified specific mutational and therapeutic landscapes of pancreatic cancer in the Russian population. By applying machine learning models to full exome individual data, researchers received personalized recommendations for targeted treatment options for each clinical case.
A study reveals thyroid cancer's genetic changes contribute to resistance to BRAF inhibitors and can lead to tumor dedifferentiation. Researchers identify potential targets for new therapies, including dual-targeted treatments and immunotherapy combinations.
A recent study published in Genome Medicine has identified 103 genes that cause inherited diseases when mutated can also increase cancer risk. The research found that individuals with these genes are more likely to develop cancer than those without them.
Researchers developed a training curriculum for community health workers to enhance cancer genetic screening in Black women. The 10-module program, KEEP IT, improved genetic knowledge and competencies among CHWs, who are trusted members of their communities.
Researchers studied cellular functions in medulloblastoma to understand its genetic causes and develop targeted therapies. The study identified essential microproteins that play a crucial role in the survival of cancer cells.
A new study by University of California Riverside researchers found that high-fat diets affect not only obesity and colon cancer but also the immune system, brain function, and potentially COVID-19 risk. The study, which analyzed genetic changes in mice fed different types of fat, showed that polyunsaturated fatty acids in soybean oil ...
Researchers at UCLA Health have received a $3 million grant to identify novel biomarkers and develop AI for detecting aggressive prostate cancer. The project aims to improve treatment accuracy and reduce unnecessary interventions.
New research reveals that Black women are more likely to develop endometrial cancers called serous carcinoma and carcinosarcoma, which are more aggressive than those found in white women. The study also showed that Black patients have a higher risk of having copy number-high or TP53 abnormal tumors, which have worse outcomes.
A team of international researchers has reported the first high-resolution images and structural details of the human genetic element LINE-1, which is implicated in various diseases. The study provides a target for potential new treatments, particularly for cancer, autoimmune disorders, neurodegeneration, and even aging.
Researchers discuss CRISPR's limitations in generating accurate cancer models, including variable mutations and indels. Despite these challenges, the technology holds promise for cancer research due to its potential for natural selection and Darwinian evolution.
Researchers identified 38 unique pathogenic variants in 57 patients, including novel variants specific to the Kazakh population. These variants were associated with an increased risk of triple-negative breast cancer and family history of breast cancer.
Researchers identified a correlation between the HSD3B1 biomarker and resistance to combined hormone therapy and radiotherapy in men with prostate cancer. The study found that high levels of the enzyme led to increased testosterone production, promoting resistance to treatment.
Researchers at Children's Hospital of Philadelphia found that gene splicing can reduce CD20 protein levels, making immunotherapies ineffective. However, CAR-T cell therapy may still be effective against patients with low CD20 levels, offering a new treatment option for these patients.
Researchers successfully produced alstonine, a naturally occurring substance with potential for treating mental disorders, using genetically engineered yeast cells. The yeast platform has the potential to discover and develop plant-based medicines, including those for schizophrenia.
The study demonstrates that concurrent DNA and RNA sequencing improves the detection of novel variants in individuals undergoing hereditary cancer testing, expanding identification of those with hereditary cancer predisposition. This advancement enables personalized therapeutics and surveillance for these individuals.
Researchers developed a blood test to detect cancer earlier in individuals with Li-Fraumeni syndrome, an inherited condition with a high risk of developing cancer. The study provides a proof-of-principle framework for detecting specific cancers earlier, paving the way for further clinical trials and improved patient care.
Scientists from Tokyo Metropolitan University have created a new polymer that can effectively transport plasmid DNA into T-cells during CAR T-cell therapy. The polymer, called PAMAM-G2-Gu, is stable, non-toxic, and doesn't use viruses, making it a promising candidate for next-gen gene carriers.