Articles tagged with Cancer Genetics
A recent Estonian study reveals that 19.7% of healthy family members of breast and ovarian cancer patients carry variants that elevate their cancer risk, including 34% of men. The findings highlight the importance of genetic testing and counseling for those with a family history of the disease.
Researchers have uncovered a potential strategy to eliminate cancer cells that survive KRAS inhibition, preventing relapse. By targeting the metabolic pathways that support the survival of drug-tolerant persister cells, treatment regimens could be designed to shrink tumors and prevent cancer recurrence.
Researchers found a genetic mutation, TGFBR1*6A, associated with lower risk of colorectal cancer. Carriers of this mutation have a reduced risk of developing the disease, even in those with familial adenomatous polyposis.
A comprehensive review of breast cancer risk models in women with a family history found that none are highly accurate at identifying which women will develop the disease. The BOADICEA model showed balanced performance, while others had significant limitations, emphasizing the need for continued improvement.
Two studies suggest that weight loss after bariatric surgery reduces cancer risk in women, with insulin levels and genetic background playing key roles. Women carrying a specific FTO genetic variant showed significant breast cancer risk reduction.
Researchers at UT MD Anderson Cancer Center have uncovered genetic and cell-state adaptive mechanisms that drive resistance to KRAS inhibitors in patients with KRAS-mutant colorectal cancer. Targeting early inflammatory responses by adding TBK1 blockade may be a promising combination strategy to overcome treatment resistance.
Dr. Michele Carbone received the 2026 Szent-Görgyi Prize for his groundbreaking discovery that mesothelioma can be transmitted through families in a Mendelian fashion, driven by inherited mutations in the BAP1 gene. His research has transformed how the disease is understood, diagnosed, treated and prevented worldwide.
The Alliance A082402 study evaluates the effectiveness of involved-station I²-PORT in reducing NSCLC recurrence without long-term side effects. Participants will undergo randomized treatment with or without targeted radiation therapy after surgery.
Researchers identified eight new DNA signatures in breast cancer and developed an open-access tool to visualize the data. The study's findings could help refine diagnostic tools and match patients with targeted therapies.
A specific region of Dicer must be activated to achieve proper cell division and reproduction, a discovery that sheds light on the regulation of this enzyme's critical role in both cancer biology and fertility. This finding opens new avenues for studying how small epigenetic changes contribute to disease.
Researchers developed RF-SIRF, a quantitative method to detect and map reversed DNA replication forks with single-cell resolution. The study identified unique epigenetic codes for DNA replication stress that can be further examined to understand genomic stability, aging, and treatment response.
The Alliance for Clinical Trials in Oncology has several active trials specifically designed to help people with head and neck cancers. Trials include testing high-dose prophylactic gabapentin to prevent opioid use during treatment, as well as immunotherapy with nivolumab and cabozantinib for mucosal melanoma and nasopharyngeal carcino...
Researchers found associations between BRCA1/2 pathogenic variants and four types of cancer: thyroid, bladder, skin, and head and neck. Pathogenic variants in BRCA1 increase thyroid cancer risk, while BRCA2 increases risk for bladder, head and neck, and skin cancers.
A new study maps how rare mixed tumors evolve into hybrid cell states and immune-protected neighborhoods, pointing to new ways to detect and treat combined small-cell lung cancer. The findings reveal that these tumors do not arise from two separate cancers but rather from a single ancestral cell that evolves over time.
Researchers generated a comprehensive view of DNA methylation abnormalities in human MDS HSCs, uncovering a novel TET2-GFI1 axis that suppresses malignant transformation. The study identifies key hematopoietic regulators and provides a panoramic view of DNA methylation disruption in MDS.
Researchers found that NUTM1 rearranged leukemia is distinct from other forms, with decreased DNA methylation and increased lifespan of blood cells. Leukemias with BRD9-NUTM1 fusion are extremely sensitive to chemotherapy, leading to improved clinical outcomes.
A web-based platform, GIFT, educates people with cancer about the impact of genetic variants on their family. The tool allows patients to invite relatives and provides information, decision support, and access to genetic testing.
The European project CGI-Clinics brings AI-powered Cancer Genome Interpreter (CGI) closer to clinical applications, enabling reliable and scalable tumour genome interpretation in precision oncology. The platform leverages machine learning to transform complex genomic data into actionable insights.
A new clinical trial will investigate whether adding the oral medication vorasidenib to standard chemotherapy improves progression-free survival for people with newly-diagnosed, grade 3 IDH-mutant astrocytoma. The study aims to recruit 400 individuals with this type of brain cancer and evaluate the safety and side-effect profile of the...
Researchers at UCSF have discovered a new therapeutic target, SRC, present on up to half of all tumors, which can be targeted with antibody drugs. The enzyme, normally hidden inside cells, is exposed on the surface of tumor cells due to an overactive disposal system, making it an easy target for cancer-killing antibodies.
Severe COVID-19 and influenza infections can prime the lungs for cancer development, according to new research. Vaccination, however, largely prevents these changes, suggesting a reduced risk of lung cancer.
A new clinical study aims to improve communication between patients and families about genetic risks of colorectal cancer. The trial will compare two methods of sharing genetic test results with close relatives, with the goal of learning which approach helps more family members get necessary genetic testing.
The King Center for Lynch Syndrome will advance research, outreach, education, and patient care for Lynch syndrome, a hereditary condition affecting 1 in 279 individuals. The center will provide cutting-edge research, life-long comprehensive care, and increased awareness for patients and families affected by Lynch syndrome.
New research warns that popular AI systems for predicting cancer biology may rely on visual shortcuts, raising concerns about their reliability for real-world patient care. Despite achieving high accuracy, these models often fail when conditions change or confounding factors are controlled.
Researchers analyzed tumour samples from almost 500 domestic cats across five countries, identifying specific driver genes that lead to cancer development. The study found similarities between cat and human cancers, including a common driver gene associated with worse prognosis in humans.
Pathogenic bacteria in gut and breast tissue can promote breast cancer development by increasing SMOX activity, leading to DNA damage and tumor growth. Targeting SMOX with inhibitors could be a viable strategy to counteract the cancer-promoting effects of microbial dysbiosis.
A recent clinical trial found that remote telehealth services increased the uptake of genetic counseling and testing in adult survivors of childhood cancers. The study showed a significant impact on reducing morbidity and mortality by driving earlier detection of subsequent cancer.
A new review highlights the growing burden of lung cancer in never-smokers, emphasizing the need for dedicated research, screening, and clinical trials. The study argues that LCINS has distinct causes and biology requiring a different approach to diagnosis and treatment.
The updated guidelines provide a unified framework for evaluating residual viable tumor, necrosis, and regression after presurgical treatment. The new criteria demonstrate high reproducibility across different tumor types and pathologists, providing a foundation for standardized data collection and improved patient care.
Cancer researchers have identified a key mechanism by which cancer cells protect themselves from the immune system. The study found that MYC protein can bind to RNA molecules, eliminating alarm signals that would activate the immune defense.
Researchers from The University of Osaka discovered that loss of heterochromatin can trigger genetic changes leading to chromosomal rearrangements and diseases like cancer. Accumulation of R-loops at pericentromeric repeats was found to be a key mechanism in this process.
Researchers identified specific microbial patterns associated with tumor location, genetic features, and patient outcomes. A new Microbial Risk Score (MRS) offers a practical way to translate complex microbiome data into prognostic insight.
A recent study published in Gut journal revealed that Streptococcus anginosus produces methionine metabolites, which significantly contribute to the development of gastric cancer. The research opens new paths for microbiota-targeted prevention strategies.
Early gastric cancer cells become self-sufficient by producing WNT7B, creating a self-sustaining loop and activating WNT signaling internally. This mechanism is triggered by MAPK signaling activation and has been validated in genetically engineered mouse models and human patient-derived organoids.
A recent review suggests that Clostridioides difficile infection may promote the development of gastrointestinal tumors, including colorectal cancer. The bacterium's toxins can cause damage to the epithelial cytoskeleton and induce inflammation, leading to chronic colitis and increased risk of CRC.
A blood test may help doctors identify which patients with colon cancer can benefit from anti-inflammatory medication and chemotherapy after surgery. The test measures circulating tumor DNA levels, and high-risk patients who test positive see improved survival rates when taking celecoxib with chemotherapy.
A NIH-led study identified key factors driving tumor evolution and influence outcomes in lung cancer, revealing a previously unknown origin of aggressive tumors associated with the ID2 mutational signature linked to LINE-1 reactivation. Major driver gene mutations also influenced tumor evolutionary trajectories.
The MUTE-Seq method detects rare cancer mutations at exceptionally low frequencies, enriching circulating tumor DNA and improving detection accuracy. It increases variant allele frequencies by tens of times, enabling detection of mutations present at 0.005% or lower.
Researchers at MD Anderson have made significant discoveries in the treatment of rare bile duct cancers, with zanidatamab showing promising results. Additionally, a study identified RASH3D19 as a target to overcome treatment resistance in KRAS-mutant cancers.
Researchers at UC Riverside and City of Hope have developed a novel Pin1 degrading compound that suppresses pancreatic cancer peritoneal metastases. The treatment targets not only cancer cells but also tumor-supporting cells, potentially overcoming treatment resistance.
Scientists uncover a previously unknown function of the enzyme NUDT5, which acts as a molecular scaffold to control purine synthesis and DNA replication. This discovery sheds light on why some patients respond better to long-used cancer drugs.
Up to 17 million people in the US, approximately 5%, carry genetic mutations associated with cancer risk. The study highlights the importance of routine cancer screenings and suggests expanding genetic testing beyond high-risk groups.
A new Alliance trial is exploring the effectiveness of a combination of targeted therapy and immunotherapy for patients with advanced adrenocortical carcinoma, a rare and aggressive cancer. The study aims to improve disease control and quality of life for patients with limited treatment options.
Researchers found that smoking and biological sex shape how normal cells evolve in healthy bladder tissue, with certain mutations gaining an advantage to expand into clones. This study offers new insights into cancer risk and prevention by providing a way to understand tissue evolution and identify early warning signs.
The NCCN Guidelines Navigator now covers treatment for over a dozen cancer types, including hereditary risk assessment, providing seamless navigation and search capabilities. The new format aims to improve treatment decision-making based on the latest evidence and expert-consensus.
The 2025 NFCR Global Summit will convene world-renowned experts in cancer research, entrepreneurship, and patient care. Keynote speakers include Monica Bertagnolli, Webster K. Cavenee, Lisa Coussens, Ronald DePinho, and Tony Hunter.
Head and neck cancer's intricate connection between energy metabolism and immune regulation holds potential for effective therapies. Tumor cells' metabolic reprogramming fuels growth and supports invasion, while altering glucose transporters and lipid metabolism promotes immune evasion.
Natural compounds normalize tumor vasculature, inhibiting pathological angiogenesis and reducing tumor growth. These agents complement conventional therapies, reduce toxicity, and enhance delivery of chemotherapeutic drugs.
Researchers have developed innovative strategies combining oncolytic viruses with immunotherapies to overcome limitations of OV monotherapy. These synergistic treatments amplify the body's natural defenses, creating a powerful dual attack against cancer cells while minimizing adverse effects.
The in vivo approach eliminates laboratory manipulation, leveraging viral and nonviral vectors for genetic modification of T cells. This method preserves T cell functionality, enhancing therapeutic efficacy compared to in vitro-produced CAR T cells.
The Molecular Analysis for Precision Oncology Congress 2025 (MAP) brings together leading experts to explore the latest cancer research advances. Key topics include AI-integrated diagnostics and therapy, as well as immunotherapy and emerging developments in aging and cellular senescence.
Researchers identified three distinct molecular subtypes of follicular lymphoma, offering insights into personalized treatment plans. The subtypes C1, C2, and C3 differ in their genetic profiles and tumor microenvironments, guiding the use of specific therapies.
Chitinase-3-like protein 1 (CHI3L1) is recognized for its unique ability to influence multiple pathophysiological processes, despite lacking enzymatic activity. Elevated levels of CHI3L1 correlate with fibrosis severity and demonstrate superior diagnostic efficacy compared to conventional markers.
Researchers at WashU Medicine found that clonal hematopoiesis, a condition caused by mutated blood stem cells, is more common among individuals with inherited mutations that increase cancer risk. Those with inherited mutations had a higher risk of developing blood cancer if their stem cell clones acquired additional harmful mutations.
SOX2 is crucial in tumor growth, spread, and resistance to therapy, influencing cell proliferation, apoptosis resistance, and EMT. Elevated SOX2 levels are associated with poor prognosis and enable cancer cells to adapt to therapeutic pressure.
Advances in NGS have revealed non-coding regions' role in gene regulation and disease etiology. Targeting non-coding elements implicated in disease may lead to tailored therapies.
This review article explores the complexities of tumor angiogenesis and endothelial cell origins, highlighting the diverse sources and mechanisms of endothelial cell development in tumors. The study outlines the dysregulation and heterogeneity of tumor blood vessels, complicating the development of effective therapies.
Research reveals that gut microbiota imbalances can contribute to cardiac dysfunction, inflammation, and metabolic disturbances in heart failure. Dietary interventions, probiotics, and fecal microbiota transplantation may offer innovative approaches for managing heart failure.
Researchers explore the potential of boosting mitochondrial biogenesis to alleviate acute kidney injury by targeting energy metabolism, stress resistance, and cell survival. Promising compounds like resveratrol and ZLN005 enhance mitochondrial function while minimizing toxicity.
The study reveals how genetic mutations in fucosyltransferases contribute to disease susceptibility, leading to inflammatory responses, barrier dysfunction, and increased cancer risk. Aberrant fucosylation is linked to conditions such as liver cirrhosis, hepatocellular carcinoma, pancreatic cancer progression, and gastric cancer.