Articles tagged with Cancer Genetics
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.
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 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.
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.
A new computational method called Salmon can improve the accuracy of gene expression analyses by correcting for technical biases. This is particularly important for applications such as cancer diagnosis and disease subtyping, where gene expression plays a critical role.
Researchers have identified two genes linked to IgA nephropathy, a common cause of kidney failure. The study found that variations in these genes, C1GALT1 and C1GALT1C1, are significantly more common in patients with high levels of the Gd-IgA1 marker.
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.
Researchers have developed a new blood test that can detect cancer and identify its location in the body, offering an alternative to invasive surgical procedures. The test works by analyzing DNA released by dying tumor cells and identifying specific methylation patterns unique to each tissue type.
Researchers developed a new framework to classify human prostate cancer using mathematical approach Latent Process Decomposition (LPD), identifying a novel 'poor prognosis' category called DESNT. This distinction helps target therapy to men with significant cancers, avoiding unnecessary treatments and side effects.
A personalized strategy involving frequent CA125 blood tests and ultrasound examinations could improve the chance of detecting tumors at early stages. This approach reduced the risk of diagnosis with advanced cancer in high-risk women who chose to delay recommended preventive surgery.
Researchers have developed a new computational software to determine the presence of epigenetic add-ons linked to cancer and other health conditions. The software uses nanopore sequencing technology to detect cytosine methylation in DNA, which can affect gene expression and play a role in diseases such as cancer.
Researchers have developed a new imaging technology that sees DNA naturally fluoresce, allowing for the study of individual biomolecules and global patterns of gene expression. This breakthrough could yield insights into cancer and other diseases.
Researchers identified T-bet as the key control point regulating genetic risk in specific diseases like IBD and Celiac disease. This discovery provides a specific target for treatment development, potentially leading to more effective therapies for life-changing auto-immune conditions.
Researchers developed a new tool to analyze genetic changes in ovarian cancer, revealing pathways disrupted by the loss and gain of genes. The study found that targeting autophagy genes showed promise in treating chemotherapy-resistant disease.
Researchers validated 70 genes associated with congenital heart disease in fruit flies, including those modifying histone structure. This approach may enable precise gene-editing techniques for tailored treatments.
A study found that many high-risk breast cancer patients are not recommended for genetic testing, despite being interested in it. The lack of testing puts doctors at risk of missing opportunities to prevent cancers in mutation carriers and their family members.
A new study published in Nature reveals 83 new genetic variants strongly influencing human height, shedding light on the poorly understood area of human biology. The research found rare genetic changes with large effects on height, up to 2 cm, and may lead to precision medicine approaches for growth disorders.
Scientists have identified 107 new gene regions linked to high blood pressure, enabling doctors to target treatments and advise on lifestyle changes. The findings suggest a personalized medicine approach could reduce the risk of heart disease and stroke.
A recent study among over 1000 colorectal cancer patients found that about 10% carry mutations associated with increased cancer susceptibility. The research recommends genetic testing for all patients to identify these risks and prevent future cases. This expanded approach could also benefit at-risk family members by providing earlier ...
Researchers developed a universal CAR T cell therapy that overcomes the obstacle of generating personalized cancer-killing cells from young children. The treatment successfully eradicated leukemia from two infant patients, who remained disease-free for 10 and 16 months.
A University of Michigan study found that less than 2% of customers regret receiving genetic health data and only about 1% are harmed by the results. The majority of participants were interested in ancestry information, with 74% wanting to know their ancestral origins.
Researchers at Northwestern University have discovered a genetic driver of mixed lineage leukemia, a rare and deadly form of childhood leukemia. They identified a targeted molecular therapy that halts the proliferation of leukemic cells by stabilizing the wild-type MLL protein, which drives cancer.
The Damon Runyon-Rachleff Innovation Awards support novel approaches to fighting cancer with $2.1 million grants to nine innovative early-career scientists. Their projects aim to significantly impact cancer prevention, diagnosis, and treatment.
Researchers from the National Foundation for Cancer Research (NFCR) have discovered a new pharmacological agent to treat glioblastoma multiforme, a deadly brain cancer. The treatment has shown profound survival benefits in pre-clinical models when combined with radiation.