Research on the genetic drivers of cancer. Covers childhood-cancer drivers, AI mutation detection, faster lymphoma diagnosis, and precision immunotherapy trials.
A new genetic risk model predicts age of onset for aggressive prostate cancer, guiding screening decisions. Men with high scores are at almost three-fold greater risk of developing aggressive disease.
Researchers at Columbia University Medical Center discovered that a gene fusion can cause cancer by increasing mitochondrial activity and fueling cell growth. Drugs targeting this pathway can prevent tumor growth in human cancer cells and mice with brain cancer.
A high-protein diet can protect against colorectal cancer in those with inflammatory bowel disease, while a low-protein diet may be beneficial for those with a genetic predisposition. Researchers suggest tailoring treatments based on the amount of protein in the diet.
Smokers with targetable genetic alterations in their lung cancer benefit equally from targeted therapies as non-smokers. Targeted treatments improve survival by 1.5 years, regardless of smoking status.
A study from Michigan Medicine found that 20% of young colon cancer patients have an inherited genetic abnormality, highlighting the need for broader genetic testing. The research suggests that even without family history, these alterations can impact care and family members.
A landmark clinical trial has shown impressive results for a CAR-T cancer treatment in refractory large B-cell lymphoma patients, achieving complete remission in 42% of cases. However, severe side effects including cytokine release syndrome and neurologic problems were also observed, affecting up to 95% of patients.
A recent study found a genetic relationship between hCMV reactivation and GVHD, suggesting personalized antiviral treatments could reduce complications in stem cell transplant patients. Researchers sequenced the DNA of 77 donors and recipients, identifying similarities between hCMV peptides and those expressed in GVHD-affected tissue.
Researchers at Thomas Jefferson University discovered how losing a gene leads to large-scale genetic changes that make cancer more aggressive and resistant to treatment. The study shows promise for personalized therapy using liquid biopsies to track RB status in prostate cancer patients.
A new study identifies six genetic changes linked to Hodgkin lymphoma, a cancer of the immune system. The research offers important clues for understanding both lymphoma and autoimmune diseases.
A study in Malaysia assesses the effectiveness of mainstreaming genetic counselling for ovarian cancer patients. Preliminary results show that most patients are satisfied with their experience, regardless of whether they receive counselling by a trained clinician or a genetic counsellor.
Researchers at UT Austin developed an ancient enzyme that detects full range of RNAs with high accuracy, improving cancer diagnosis. The enzyme, TGIRTs, can be used to monitor disease progression and response to treatment.
A study published in Journal of Cancer Survivorship found that motivation to provide samples for genetic tests depends on oncologist engagement or religion, rather than race. Women with better access to healthcare and a greater sense of well-being were more likely to participate in genetic research.
Researchers at ETH Zurich have developed a method to compress and decompress DNA, enabling the efficient transfer of large amounts of genetic information into cells. This innovation has potential applications in synthetic biology, biotechnology, and cancer research, improving diagnosis accuracy and treatment outcomes.
Researchers from the University of Leeds found two genetic variants in non-invasive bladder cancer tumours, which could lead to more personalized therapy. The study also revealed that women are more likely to have a defect in a specific tumour suppressor gene, opening up new avenues for research.
Researchers discovered low genetic diversity in domestic ferrets globally, making them more susceptible to diseases and disorders. The study highlights the importance of incorporating genetically diverse ferrets from other countries into breeding programs to minimize inbreeding and reduce the risk of disease transmission.
A nationwide population-based study found that death rates from lupus remain high compared to the general population, with significant disparities observed among older persons, females, blacks, and Hispanics. The study suggests that targeted research and public health programs may help address these disparities.
Children considered at risk for retinoblastoma should receive genetic counseling and testing as soon as possible to detect the disease early. The new guidelines aim to improve care for these children by focusing on those at highest risk while reducing unnecessary examinations.
Researchers at Alliance for Cancer Gene Therapy (ACGT) have received $1.3 million in critical funding to study immunotherapy and virotherapy for three deadly forms of cancer: glioblastoma, sarcoma, and ovarian cancer. The grants will support clinical trials to test innovative treatments using gene therapy.
A major study of genetic information found that education leads to a longer life, with almost a year added for each year spent studying beyond school. Lifestyle choices such as quitting smoking, studying longer, and being open to new experiences also contribute to a longer lifespan.
A study published in Gastroenterology identifies the gene mutation responsible for fibrolamellar hepatocellular carcinoma, a rare form of liver cancer mainly affecting children and young people. The researchers used CRISPR/Cas9 technology to introduce the mutation into mice, resulting in 12 out of 15 developing tumors.
The study found that the world's 'better' countries, with greater access to healthcare, experience much higher rates of cancer incidence than the world's 'worse off' countries. The rate of most cancers in the top 10 best countries was greater than in the 10 worst countries.
Researchers have identified a new genetic marker, BRF1, associated with up to 1.4% of hereditary colon cancer cases. The finding allows for personalized follow-up programs and potential prevention of early onset cancer in mutation carriers.
Researchers at CRI discover lactate acts as a fuel source for growing tumors, contradicting the nearly century-old Warburg effect. The finding has significant implications for therapies and imaging techniques for lung cancer.
A recent study has identified 150 genetic drivers of diffuse large B cell lymphoma, a common form of blood cancer. The research, led by Duke Cancer Institute scientists, found correlations between specific genes and treatment responses, opening up new avenues for targeted therapies.
The approved gene therapy Kymriah offers hope for children and young adults with relapsed or refractory B-cell precursor acute lymphoblastic leukemia. However, its high cost and limited accessibility pose significant challenges for policy-makers and patients alike.
A Russian scientist has proposed a model to predict cancer development by analyzing the relationship between age and morbidity. The model uses the Erlang probability distribution to estimate the number of key carcinogenic events for each cancer type.
Researchers have identified networks of genes related to autism spectrum disorder (ASD) that may also be involved in cancer, potentially leading to new treatment options. The study used a computational technique to account for gene interactions, revealing genes that could affect similar pathways.
Researchers identified a new genetic syndrome caused by biallelic mutations in the FANCM gene, leading to early cancer formations and chemotherapy toxicity. Patients with this syndrome did not develop Fanconi anaemia, but had a higher risk of breast cancer and chromosomal fragility.
Researchers discover genetic alteration directly involved in at least 10% of T-cell acute lymphoblastic leukemia cases. The Capicua gene acts as a tumour suppressor and is linked to resistance to certain treatments.
Researchers found that tiny protein CYREN inhibits fast but error-prone NHEJ pathway and enables slower HR pathway, offering potential tool against cancer. CYREN's discovery clarifies longstanding mystery about DNA repair pathways.
A study published in Nature Research's Scientific Reports reveals that the novel protein SATB2 can cause normal cells to become malignant, grow and spread like cancer stem cells. Silencing SATB2 suppresses cell growth and cancer stem cell characteristics, suggesting a potential new target for therapy.
Researchers have developed a method to accurately measure tiny changes in molecular interactions, which can predict cognitive impairment and diagnose mental illness. The technique uses optical tweezers to gauge the effects of gene mutations, offering a new approach to understanding complex diseases.
A study has characterized all of the circular DNA in the worm <em>C. elegans</em> and three human cell types, revealing different sets of circles in different cell varieties. The researchers used a 50-year-old lab technique called density gradient centrifugation to separate and purify the circular DNA.
A study found that vitamin C activated the enzyme TET2 in mice with genetic mutations that reduce its function, leading to the death of leukemia stem cells. High-dose vitamin C treatment was also shown to suppress the growth of cancer stem cells from human patients implanted in mice.
Researchers developed a DNA sequencing-based method to detect early stage cancers by analyzing circulating tumor DNA in blood plasma. The approach, called TEC-Seq, identified cancer driver genes in over 90% of patients with colorectal, ovarian, lung, and breast cancers.
Researchers have identified a genetic rearrangement involving the NF2 gene that causes meningiomas in long-term childhood cancer survivors. The study suggests that cranial-spinal radiation increases the risk of developing aggressive and recurring brain tumors.
A new evolutionary theory of cancer suggests that cells with dangerous mutations exist all the time but are commonly outcompeted by healthy cells in healthy tissues. However, when the tissue microenvironment is damaged, these pre-cancer cells can thrive and establish themselves in the body.
John J. Mulvihill, MD, receives the ASHG Mentorship Award for his sustained pattern of exemplary mentorship at various academic ranks. He has founded successful genetics training programs and mentored trainees across fields and career stages.
The FDA advisory committee voted unanimously to recommend approval of Novartis' CAR-T therapy Tisagenlecleucel, demonstrating impressive results in hard-to-treat leukemia patients. ACGT's funding played a crucial role in advancing the pioneering treatment.
Researchers have developed a nanolock-nanopore sensor to detect a specific cancer mutation with single-molecule resolution. The approach can accurately identify disease-causing mutations in various types of cancer.
A high-fat diet during pregnancy significantly increases breast cancer susceptibility in offspring for three generations, according to a Georgetown University Medical Center study. Genetic changes were observed in mammary tissue of high-fat diet progeny compared to control group's offspring.
A team of investigators discovered a genetic program that some cancers use to cloak themselves from the immune system, affecting detection and treatment outcomes. The research highlights potential new immunotherapy targets and biomarkers for cancer survival.
A large-scale study of women carrying faults in cancer genes found that family history, gene position, and precise mutation type impact cancer risk. Estimates provide more confidence for counselling and clinical management.
Research at the University of Chicago Medical Center identified genetic variations that pre-dispose children to severe forms of neuroblastoma, paving the way for more targeted treatments. Children with MYCN-amplified tumors have a lower survival rate, but understanding their genetic predispositions could lead to more effective therapies.
Eiman Azim receives $240,000 grant to investigate neural circuits controlling skilled movements. He aims to deepen understanding of nervous system control and develop approaches to restore function in motor circuits affected by injury or disease.
A large analysis of five major testicular cancer studies has uncovered eight new genetic markers associated with an increased risk of developing testicular germ cell tumors. The findings, published in Nature Genetics, substantially increase the number of known susceptibility genes linked to testicular cancer.
Researchers found that genetic testing can pick out men at increased risk of testicular cancer, who may benefit from monitoring or preventative treatment. Testing identified 1% of men at highest risk, with a 7% lifetime risk of developing the disease.
Researchers developed 'iExosomes' that target mutant KRAS, a common mutation in pancreatic cancer, to deliver RNAi and suppress tumor growth. The therapy approach was more efficient than traditional methods, offering new hope for treating this aggressive form of cancer.
A study found that only 9% of patients with Acute Myeloid Leukemia (AML) received the recommended seven genetic tests, highlighting a significant gap in adherence to guidelines. The CONNECT registry data also showed varying rates of compliance among different patient groups, including age and insurance status.
A study found that combining therapies targeting polyADP ribose polymerase (PARP) and mitogen-activated protein kinase (MEK) inhibitors showed promise in treating RAS-mutant cancers. The combination therapy was effective in multiple tumor models, regardless of mutations in tumor suppressor genes.
The study shows that open-access BRCA testing to Ashkenazi women enables the identification of carriers who would otherwise have been missed. Carrying one of the mutations for the BRCA genes means that women affected have a 50-80% risk of developing breast cancer and a 20-50% risk for ovarian cancer.
A genetic study led by UC Davis has identified a mutation in horses that may contribute to squamous cell carcinoma, the most common cancer found in equine eyes. This discovery offers hope for early detection and treatment of ocular SCC, potentially improving horse health and informing breeding decisions.
Recent research from the Stowers Institute for Medical Research reveals that polymerase pauses prevent other machines from immediately following, thereby controlling the flow of genetic information. Paused polymerases keep new polymerases from initiating transcription, maintaining a controlled pace during gene expression.
Research by the German Cancer Research Center has found that defective intercellular connections in the ependyma, a cellular layer separating the brain nervous tissue from CSF, cause hydrocephalus. This leads to blockage of the aqueduct, blocking cerebrospinal fluid flow and resulting in swollen heads and brain pressure.
Researchers at UT Health San Antonio have discovered epigenetic changes that contribute to one-fifth of acute myeloid leukemia cases and a large majority of low-grade gliomas. These changes may be targeted by an existing drug, improving survival rates for patients.
Researchers found that aneuploidy, a condition causing abnormal chromosome numbers, can lead to varying outcomes in genetically identical cells. The study's findings have significant implications for cancer treatment, as it may explain why some cancer cells respond differently to therapy.
A new study reveals that there are over 79 rare genetic forms of obesity associated with various clinical features, far outnumbering previous estimates. The research highlights the need for national and international collaborations to identify the genes responsible for these syndromes.
Researchers found that 85% of human genes associated with nephrotic syndrome also play crucial roles in Drosophila renal function. Silencing a specific gene led to dramatic impairments in nephrocyte function, shortened life span, and reduced filtration capacity.
A study by the University of Bonn found that shorter men have an increased risk of becoming bald prematurely, linked to genetic alterations in the human genome. The research identified 63 genes that increase the risk of premature hair loss, often accompanied by other characteristics and illnesses.
Researchers in Florida have identified a possible association between cancer incidence rates and Superfund sites. The study found that counties with Superfund sites had a 6% higher rate of adult cancer cases, suggesting a link between toxic environmental waste and adverse health outcomes.