NCI Center for Cancer Research’s Post

Recent research has identified potential new hereditary genes linked to high-grade serous ovarian cancer (HGSOC), a prevalent and deadly form of ovarian cancer. Published in npj Genomic Medicine, the study highlights that nearly 40% of HGSOC cases have an inherited component, with genes like BRCA1 and BRCA2 already known contributors. The research confirmed the role of PALB2 and ATM genes and identified a new gene potentially linked to increased risk. These findings could enhance early detection and risk stratification, offering a pathway to improved diagnostic tests and targeted interventions for this challenging cancer.

In a latest study, Geneseeq and collaborators analyzed targeted sequencing data from 6,530 tissue samples of metastatic colorectal cancer(CRC) patients to investigate the mutation patterns and subgroup-specific driver genes. This study highlights the heterogeneity of CRC, emphasizing the complexity of driver gene mutations, which hold significant implications for treatment strategies, prognostic assessments, and personalized medicine approaches. #colorectalcancer #targetedsequencing #cancerresearch #genomics Read more about this study: https://lnkd.in/gNhv78jR Learn more about Geneseeq's targeted sequencing panels for solid tumor: https://lnkd.in/e7P4ycC

An interesting paper in which researchers employed spatial transcriptomics to investigate the tumor architecture and microenvironment of triple-negative breast cancer (TNBC) in 92 patients. By analyzing the spatial organization and cellular composition of TNBC, they identified nine distinct spatial archetypes, some of which are associated with disease outcomes and potential treatment responses. These archetypes revealed variations in gene expression patterns and immune cell infiltration, which are predictive of responses to immunotherapy. The researchers aimed to provide a comprehensive understanding of the complexity and heterogeneity of TNBC, highlighting the importance of the tumor microenvironment in cancer progression and treatment response. The ultimate goal of the study was to pave the way for more personalized and effective treatment strategies for TNBC patients, potentially improving clinical outcomes and guiding future therapeutic developments. Paper link: https://lnkd.in/dZ4mGBRv #TiwariLab #JournalClub

P53 and cancer🎗️ More than 50% of human cancers have mutations in P53. These alterations can lead to Uncontrolled cell proliferation 📈 Resistance to apoptosis 🛑 Genomic instability 🧬🔀 Increased metastatic capacity 🔄 Transcriptomics: A powerful tool in the fight against cancer 💪🔬 Transcriptomics, the study of the complete set of RNA transcripts in a cell, is revolutionising our understanding of cancer and the development of personalised therapies Gene expression profiling: identifying unique patterns in cancer cells. 📊🔍 Biomarkers: Discovery of new indicators for diagnosis and prognosis. 🏷️🔎 Signalling pathways: Understanding the regulatory networks affected by mutations in P53. 🕸️🧮 Drug resistance: Identification of mechanisms of resistance to therapies. 💊🚫 Targeted therapies: Development of treatments that target specific pathways altered in each patient. 🎯💉 The future of personalised therapies: 🔮🧪 The integration of P53 information and transcriptomic data is opening up new avenues for cancer treatment: P53 reactivation: development of drugs that restore the function of mutated P53. 🔄🔬 Gene therapy: Introduction of functional copies of P53 into tumour cells. 🧬💉 Personalised immunotherapy: Design of treatments based on the transcriptomic profile of the tumour. 🛡️🦠 Combination therapies: Multimodal approaches that address multiple altered pathways. 🔀💊 The study of the P53 gene and its relationship with apoptosis, combined with advances in transcriptomics, is paving the way towards a new era of personalised medicine in oncology. We are on the threshold of a revolution in cancer treatment, where each patient could receive a unique therapy, designed specifically for the molecular characteristics of their tumour. What do you think about these advances - do you think we are close to a personalised cure for cancer? Share your thoughts in the comments! 💭👇 #CancerResearch #MolecularGenetics #PersonalisedMedicine #Transcriptomics #MedicalInnovation #P53 #Apoptosis

Exploring the intricate relationship between gene amplification and cancer progression is crucial. While the influence of amplification-induced oncogene expression is established, the implications of copy-number gains on adjacent "bystander" genes remain a puzzle. The study delves into this enigma by constructing a detailed roadmap of dosage compensation in cancer. This endeavor involves a meticulous fusion of expression data and copy number profiles sourced from a vast pool of over 8000 tumors within The Cancer Genome Atlas. Furthermore, insights from cell lines cataloged in the Cancer Cell Line Encyclopedia enriched analysis. Moreover, our investigation extends to scrutinizing 17 cancer open reading frame screens. This scrutiny aims to pinpoint genes that exhibit toxicity towards cancer cells upon overexpression, shedding light on potential targets for therapeutic interventions. For a deeper dive into this research, you can access the full article here: https://lnkd.in/ek-vwDuQ #CancerResearch #GeneAmplification #DosageCompensation

"A research team co-led by investigators at Vanderbilt University Medical Center and the University of Virginia has identified associations between DNA methylation and cancer risk. DNA methylation is an epigenetic change—the addition of "methyl groups" to DNA—that can affect gene expression without changing the DNA sequence. Most DNA methylation occurs on CpG sites in the genome. The new study, published in the journal Nature Communications, identifies 4,248 CpG sites associated with the risk of seven different types of cancer: breast, colorectal, renal cell, lung, ovarian, prostate and testicular germ cell cancers." #epigenetic #dna #methylation #cancer #oncology

Comprehensive genomic characterization of early-stage bladder cancer https://lnkd.in/etpC9nAQ

A recent systematic literature review and meta-analysis examined the clinical validity and utility of circulating tumor DNA (ctDNA) testing in guiding first-line treatment for advanced non-small cell lung cancer (aNSCLC). The study found that ctDNA testing has high sensitivity and specificity for detecting specific driver gene mutations in aNSCLC patients, especially for common drivers like EGFR and KRAS. However, the sensitivity for less common drivers such as ROS1 and ALK was relatively low. The study emphasizes the importance of ctDNA testing in clinical practice, particularly for guiding targeted therapy for common driver gene mutations. The advantages of ctDNA testing include its non-invasive nature, avoiding complications associated with tissue biopsies, and enabling faster initiation of first-line treatment. Moreover, ctDNA testing provides a more comprehensive genetic landscape of the tumor compared to a single tissue biopsy, which is particularly significant for patients with tumor heterogeneity. Despite the high sensitivity of ctDNA testing for certain driver gene mutations, the study also notes that the evidence base for detecting rare driver gene mutations is still limited. Therefore, future research needs to further explore the clinical utility of ctDNA testing in guiding targeted therapy for these rare driver gene mutations. In summary, ctDNA testing plays an increasingly important role in treatment decision-making for aNSCLC, especially in providing personalized treatment plans for patients. With ongoing advancements in ctDNA testing technology and more research, we anticipate a deeper understanding of its potential applications in lung cancer treatment. Full Text：https://lnkd.in/ggzPsWe5 #CirculatingTumorDNA #NonSmallCellLungCancer #LiquidBiopsy #DriverGeneMutations

A new gene-editing tool, Cas12a, has been developed by Australian researchers, offering enhanced capabilities for cancer and medical research. This next-generation enzyme allows for the deletion of multiple genes simultaneously with high efficiency, advancing genome engineering. The research, conducted using a pre-clinical model, identified genes that accelerate lymphoma growth, providing insights into CRISPR technology's limitations. By combining Cas12a with other tools, researchers can manipulate genes to model complex disorders. This development is expected to encourage further exploration of CRISPR-based therapies, potentially translating these advancements into clinical applications for cancer treatment.

✨ Exciting Progress in Cancer Therapy! ✨ Institute of Oncology Ljubljana I'm happy to share the publication of our phase I clinical study in the European Journal of Surgical Oncology This marks the first gene therapy clinical trial in Europe using Interleukin-12 (IL-12) for the treatment of basal cell carcinoma in the head and neck region. 📄 In this Phase I trial, we demonstrated: The feasibility and safety of intratumoral delivery of the phIL12 plasmid via gene electrotransfer. Local IL-12 production triggering a targeted immune response, accompanied by IFN-γ expression and increased immune cell infiltration in tumors. Encouraging results laying the groundwork for future Phase II trials combining this approach with local tumor-ablative therapies. This study represents a significant step forward in harnessing the immune system to combat cancer, with the potential for broader applications in oncology, such as combination with radiotherapy. 💡 Collaboration and innovation made this possible—thank you to our exceptional multidisciplinary team and our partners who supported this effort. 🔗 Check out the full article here: https://lnkd.in/d3P9tXNx #GeneTherapy #CancerResearch #OncologyInnovation #ClinicalTrials #IL12Therapy #electroporation #geneelectrotransfer #phaseI #interleukin12 #COBIK JAFRAL Biosolutions Iskra PIO University of Ljubljana University Medical Centre Ljubljana