Articles tagged with Cancer Genetics
Researchers developed DECoN, a free, fast tool that detects exon copy number variants, which are hard to pick up by standard DNA sequencing tests. This allows for more efficient and effective gene testing, making it potentially life-saving.
Researchers have developed a blood test that can predict how well small-cell lung cancer (SCLC) patients will respond to chemotherapy. The test analyzes patterns of genetic faults in circulating tumour cells, providing insight into treatment response and drug resistance mechanisms.
Researchers have created a mouse model that replicates the human genetic flaw causing infant leukemia, making it easier to study. The model mimics the disease found in humans both phenotypically and molecularly, with all mice developing Pro-B ALL identical to patient cases within 22 weeks.
A study found that breast cancer patients receiving chemotherapy with high genetic susceptibility had the highest risk of VTE. The one-year cumulative incidence of VTE was 9.5% in these patients, compared to 1.3% in those without high genetic susceptibility.
The OncoArray technology uses a novel, inexpensive genotyping microarray to analyze DNA variations associated with cancer. Researchers have identified over 100 new loci contributing to common cancers, including lung, colon, breast, ovarian, and prostate cancers.
A portable device enables medical staff to genetically modify blood stem cells at a lower cost and with reduced staffing requirements. The technology has the potential to make gene therapy more accessible to patients in developing countries, reducing the need for expensive clean rooms.
Scientists identified noncoding mutations that disrupt cooperative function of 'gene families' in Hirschsprung's disease, a rare genetic disorder. The study suggests that dysfunctional gene networks may influence other complex diseases, such as cancer and diabetes.
Cedars-Sinai has awarded nearly $700,000 to scientists developing new treatments and technologies for precision health. The goal is to tailor therapies and medications for specific patients based on their molecular makeups.
The UT Southwestern Medical Center has transferred nearly 175,000 induced germline mouse mutations to the NIH-supported Mutant Mouse Resource and Research Centers, significantly increasing their availability for researchers worldwide. These mutations are critical for supporting genetic research in all mammals, including humans.
Researchers discovered 15 gene mutations that contribute to more aggressive colon cancer in African-Americans, resulting in higher recurrence and metastasis rates. These findings explain the disparity in colorectal cancer rates and death rates between African-Americans and other groups.
Researchers found that mismatch repair machinery preferentially protects genetic integrity in open chromatin regions, increasing mutation rates in heterochromatic areas. This study provides direct evidence for the role of epigenetic systems in maintaining genetic fidelity.
CPRIT awards UT Southwestern Medical Center $9.6 million for various cancer research projects, including lung cancer treatment and prevention efforts. The funding will support research into how cancer cells grow, target breast cancer survivors with active living interventions.
Researchers identified genetic markers associated with a fast rate of nicotine metabolism in smokers, leading them to smoke more cigarettes to maintain stable nicotine levels. This finding could identify smokers at greater risk for lung cancer, enabling doctors and public health leaders to improve prevention strategies.
Researchers at Arizona State University developed a new method to predict which BE patients are at risk of developing cancer. The study highlights the power of studying genetic diversity as a reliable predictor of cancer development and spread.
A new study by Queen Mary University of London found that certain Barrett's Oesophagus cells can be identified as 'born to be benign' or 'bad', allowing for early detection and prevention of oesophageal cancer. The test uses genetic analysis of individual cells, predicting future risk regardless of time since abnormal cell appearance.
Decades of research on nearly 200,000 survivors and their children reveal cancer rates are not as dire as previously thought. Cancer incidence among survivors was only 10% higher than non-exposed populations, with most receiving a relatively modest dose of radiation.
Research by University of North Texas historian Constance Hilliard reveals that West African women living in regions without dairy farming have a lower rate of postmenopausal hip fractures caused by osteoporosis than their East African peers. This paradox is due to genetic adaptation to low-calcium diets, which disadvantage bone strength.
Increased support for minority-focused research and community-based participatory research can improve understanding of chronic diseases across races and ethnicities. Policy recommendations include increasing non-white participant enrollment, educating healthcare providers, and funding research on gene-environment interactions.
Researchers found that over half of patients with a rare form of sarcoma had genetic errors in genes known to increase cancer risk, such as p53 and BRCA1. This study provides new clues to the phenomenon of 'cancer families' and suggests that multiple genetic mutations working together may contribute to inherited cancer predisposition.
Scientists have identified a rare genetic alteration in the MSH3 gene that is associated with a new form of hereditary colon cancer. The discovery has significant implications for diagnosis and treatment, as it offers a clear diagnosis for some cases of polyposis and allows for targeted surveillance and prevention.
Researchers at University Hospitals Seidman Cancer Center have identified a rare gene variant associated with familial Barrett esophagus (FBE) and esophageal cancer. The study found that this mutation disrupts normal esophageal lining maturation, increasing disease risk.
A recent study by Sanford Health identified gene mutations that could impact treatment for adult cancer patients. The study found nearly 90% of patients had genes that matched treatment options, with 40% able to receive personalized therapy.
A study at the University of Texas MD Anderson Cancer Center found that genetic mutations in DNA mismatch repair deficiency (dMMR) are present in 15% of colorectal cancer cases. The study identified MSH2 and MSH6 as the most commonly affected genes, providing a new approach to diagnosis and treatment using precision medicine.
A new rare genetic condition has been discovered, characterized by severe infections and lung disease in infants. The NSMCE3 gene mutations were found to be responsible for the devastating symptoms, offering a potential explanation and diagnostic tool for this deadly disease.
Researchers created a comprehensive map of genetic and epigenetic lesions in human tumors, predicting responses to various cancer drugs. The study integrated 1,000 tumor cell lines with genetic, epigenetic, and expression alterations, validating results in 11,000 additional human samples.
Researchers are seeking to understand why African-American women die at a higher rate and experience more aggressive breast tumors than white women. The new study aims to identify genetic variants related to breast cancer in African-American women, which may lead to better treatments and prevention.
Researchers identified genetic mutations in immune system genes that may lead to synchronous colorectal cancer, a rare type of bowel tumor. The study found that these patients have inherited damaging mutations that can cause an inflammatory environment in the gut, increasing the frequency of independent cancer-initiating events.
A study published in JAMA Oncology found that women with the BRCA1 gene mutation have a significantly higher risk of developing serous endometrial cancer, which has a mortality rate of 50%. The study suggests that women with this genetic mutation should consider removing their uterus along with their ovaries and fallopian tubes. Resear...
The Canadian Coalition for Genetic Fairness (CCGF) and Senator James Cowan will receive the ASHG Advocacy Award for their work on a bill preventing genetic discrimination in Canada. The award recognizes their efforts to pass legislation protecting individuals from genetic testing and discrimination.
A Yale-led study found that the EGFR cancer gene silences tumor suppressor genes in lung and glioblastoma brain cancers using a common mechanism. This discovery informs future research directions and may help determine how effective treatments will be against different EGFR mutations.
Researchers at UNC Lineberger Comprehensive Cancer Center have discovered how a faulty genetic instruction drives the development of acute myeloid leukemia (AML) in adults. A mutation in the DNMT3A gene gives normal cells faulty instructions, leading to immature blood cells that can become cancerous.
A landmark study has identified five new potential genes linked to bowel cancer, while also confirming the role of major existing genes in increasing risk. The research suggests that minor DNA variations play a significant role in inherited risk and environmental factors, with potential implications for prevention and treatment.
Geneticists at KU Leuven have discovered that tumour protein TP53 can autonomously locate and bind to specific DNA sequences, activating the right genes to repair damaged cells. This finding sheds light on the mechanisms controlling gene expression and holds promise for future cancer therapies.
Researchers found that 30% of induced pluripotent stem cells were genetically unstable and not safe for clinical use. Despite this, a large set of iPSCs met quality standards, and the study established an online database to support further research.
Researchers aim to identify genes involved in PZQ resistance, enabling development of simple molecular tests to monitor resistance and provide early warning of drug resistance emergence. The study will focus on precise genes and mutations in laboratory genetic crosses and then expand to field researchers in Uganda and Kenya.
Research reveals snoRNAs control ribosome modification and regulate alternative splicing, leading to wrong protein variants. This discovery explains the cause of diseases like Prader-Willi syndrome and cancer, and offers a possible therapy for genetic hyperphagia.
A new study finds that delivering genetic test results to patients at risk for cancer-causing mutations over the phone reduces costs and access burdens. Patients who received phone counseling reported fewer barriers to accessing genetic counseling services than those who received in-person counseling.
A commentary suggests that gene therapy treatments for rare diseases should be valued based on long-term cost savings. The authors propose tying costs to efficacy and creating a federal initiative to support new therapies.
New research suggests that women with a high genetic risk of breast cancer can reduce their risk by following a healthy lifestyle, including eating right, exercising, and quitting smoking. The study found that approximately 30% of breast cancer cases could be prevented by modifying known risk factors.
Researchers have mapped the 'fitness landscape' of a jellyfish gene, showing how multiple mutations interact to affect protein function and fluorescence levels. The study provides insights into how genetic changes combine to influence traits and diseases.
Researchers have identified 40 mutated genes that contribute to breast cancer progression, with one gene, PIK3CA, found to lower survival chances for three subtypes. The study's findings could help develop targeted treatments and improve diagnostic tests.
Researchers warn that herbal remedies containing Aristolochia, used for over 2,000 years, can lead to kidney cancer and other health issues in genetically susceptible individuals. The authors call for global action to evaluate the safety and efficacy of botanical products.
Researchers developed a genetically encoded chemical 'block' that can be removed from kinases, enabling the investigation of their activity in both lab dishes and whole animals. This breakthrough allows for a better understanding of kinase roles in disease processes.
Dr. Hao Zhu has been awarded a $750,000 Stand Up To Cancer grant to investigate the relationship between injury, regeneration, and cancer. His research aims to understand the mechanisms shared by cancer and organ regeneration, with potential therapeutic targets in tissue repair and cancer prevention.
Researchers use CRISPR/Cas9 to analyze genome-wide association study results and pinpoint a genetic mutation in the alpha-synuclein gene that increases risk of sporadic Parkinson's disease. The discovery could lead to better understanding of complex diseases with genetic causes.
Dr. Crystal Mackall receives $500,000 Clinical Translation Grant to study osteosarcoma and develop immunotherapy treatment options. The grant aims to improve outcomes for patients with this rare form of cancer.
This special issue on cancer metastasis features groundbreaking research on tumor development, spread, and treatment resistance. Studies reveal the role of hypoxia, neutrophils, and genetic evolution in promoting metastasis, as well as potential therapeutic targets for prevention and treatment.
Researchers have made significant discoveries about the RTR complex's role in DNA repair and its connection to cancer development. The study highlights the importance of maintaining genomic stability during reproduction.
Scientists at the Wellcome Trust Sanger Institute found that induced pluripotent stem (iPS) cells acquire fewer genetic mutations than lab-grown blood cells, reducing the risk of cancer. The study tracks the genetic history of iPS cells and provides insights into the mechanisms behind mutation rates.
Researchers have developed a new method for gene transfer using an array of carbon nanotubes, overcoming limitations of existing technologies. The device successfully delivers DNA into tens of thousands of cells simultaneously with minimal toxicity and no restrictions on genetic payload.
Mutations in the PIK3CA cancer gene drive venous malformations, a common blood vessel abnormality causing painful and disfiguring lesions. Repurposing PI3K-inhibiting cancer drugs may offer a potential therapeutic avenue for patients with these vascular diseases.
Researchers identified a single variant in the p53 gene that contributes to increased cancer risk in African-Americans. This variant makes cancer resistant to cell death and may lead to poor prognosis and treatment outcomes.
Three researchers have received ACGT Young Investigator Grants to develop new treatments for leukemia/lymphoma, melanoma, and blood cancers. Dr. Yvonne Chen aims to improve CAR-T therapy, while Dr. Brent Hanks seeks to block the immune system's ability to destroy cancers using immunotherapy.
Scientists have discovered unique mutations on all cancer cells, known as tumour antigens, which can be targeted by the immune system. This breakthrough could lead to more effective immunotherapies and personalized treatment plans for patients with advanced stages of cancer.
A study published in Neurobiology of Disease found that neurons with a defective DJ1 gene experience oxidative stress and immune response imbalances due to disrupted glutamine and serine metabolism. This knowledge could lead to novel therapeutic strategies by targeting affected metabolic pathways.
Researchers developed a novel brain tumor model in mice with DNA damage-repair problems, which can help test new treatments for children's brain cancer. The model shows that treating tumors with DNA-damaging drugs can shrink them more effectively and improve survival.
A new study published in Cancer Causes & Control found that Latinas who consume processed meats like bacon and sausage have an increased risk of breast cancer. The study also suggests that tuna consumption is associated with breast cancer risk in white women, but not significantly so among Latinas.
A study published in PLOS ONE found a mutation in the APC gene, linked to colon cancer, in an 18th-century Hungarian mummy. The researchers believe that a genetic predisposition to cancer may have already existed in the pre-modern era.
Researchers at St. Jude Children's Research Hospital and the German Cancer Research Center have identified four new subtypes of a rare childhood brain tumor using molecular techniques. This discovery is expected to improve diagnosis accuracy and treatment options for these hard-to-treat cancers.
A new test analyzing cell diversity in tumors can predict survival chances in high-grade breast cancer. The Ecosystem Diversity Index identified aggressive subgroups of breast cancer and was a stronger predictor of survival than established markers.