Post di Federica Rapagna

Understanding CHEK2: A Key Gene in Cancer Susceptibility 🔬 CHEK2 heterozygotes (one loss-of-function variant) face increased risks for cancers, particularly prostate cancer, and potentially others like urinary tract, lymphoid, and endocrine cancers 🧬 This month’s suggested read uses an unbiased genomic ascertainment method, revealing subtler or late-onset cancer risks without the bias of family history-based selection 🦠 In support of Movember, 4bases offers the HEVA pro kit for detecting CHEK2 and other cancer-related gene variants, aiding early diagnosis and personalised care Read more here 👉 https://lnkd.in/dB7n_MnM #Movember #MensHealth #CancerRisk 

Uncovering the Genetic Landscape of Breast Cancer with Circulating Tumour Cells (CTCs) 🔍 Breast cancer, the leading cause of cancer-related deaths in women, is particularly challenging to treat due to evolving PIK3CA gene mutations, which contribute to resistance against chemotherapy and hormone therapy. 💡 Our recommended read this month explores how circulating tumour cells (CTCs) released by tumours into the bloodstream, can serve as a "real-time biopsy," offering a more accurate representation of the tumour’s current genetic state compared to traditional methods. 🔬 At 4bases , we leverage the power of Next Generation Sequencing (NGS) technology with our Pancancer Pro oncological kit allowing for the somatic analysis of 95 genes related to various solid tumours. 👉 Click here: https://lnkd.in/dC2RmjMc to read more! #BreastCancer #PrecisionMedicine #NGS #HealthcareInnovation

📣 Don't miss our live webinar! Join us next week on September 10th 15:00 CEST / 09:00 EDT for a live interactive webinar with Frontline Genomics! In this webinar, we will demonstrate how to better handle the complexity of NGS data analysis and variant interpretation, to confidently assess genetic variants predisposing to cancer. Attendees will learn more about novel enhanced tools for hereditary cancer research, exploring real-life application examples from two major European Cancer Institutes. 💡What will you learn? - Analytical performance results of a study conducted in collaboration with a UK hospital, based on a set of challenging clinical samples and the implementation of SOPHIA DDM™ Hereditary Cancer Solution (HCS) v2.0, at the European Institute of Oncology. - Explore the guideline-driven content, enhanced features and streamlined workflow of SOPHIA DDM™ Hereditary Cancer Solution (HCS) v2.0. - Discover improved analytical capabilities for detection of copy number variants (CNVs), Alu insertions, Boland insertions and PMS2/PMS2CL gene conversion. Don't miss it! Register here: https://loom.ly/_FIuVzQ #HereditaryCancer #Oncology #CancerResearch #Webinar #DataDrivenMedicine

📣 SOPHiA DDM™ Dx Homologous Recombination Deficiency (HRD) Solution is recognized as a validated #HRD detection method in the latest ESMO recommendations for next-generation sequencing (NGS). Considering the potential benefit of PARPi, ESMO recommends carrying out BRCA1/2 and HRD testing using a validated assay in patients with advanced ovarian cancer. 💡 SOPHiA DDM™ Dx HRD Solution is a CE-IVD marked, decentralized application that leverages low-pass whole genome sequencing data to accurately detect HRD status in ovarian cancer and inform treatment decision-making. Read the full ESMO recommendations here: https://loom.ly/CSz9Vcs Learn more about our deep learning-based approach to HRD assessment here: https://loom.ly/vF3tNOY #NGS #PrecisionMedicine #OvarianCancer

Identifying the oncological impact of BRCA1/2 pathogenic variants in males 💡 The recommended read for this month dives into hidden risks for male BRCA1/2 carriers, including elevated risks of prostate, pancreatic, and breast cancers, and learn about the latest in genetic testing and treatments, like PARP inhibitors, that could improve outcomes for these men. 🧬🔬 We at 4bases  harness the power of Next Generation Sequencing in our BraCA panel kit, which allows for the analysis of the BRCA1 and BRCA2 genes for identification of hereditary predisposition. 👉 Click here: https://lnkd.in/dNA2WCGN to read more and to explore how better testing and early detection can make a difference! #NGS #Oncology #HealthcareInnovation

Read our recent paper on: "Case report: Pulmonary Ewing sarcoma disguised as non-small cell lung cancer" Visit our website to learn more: https://lnkd.in/gptdyfDH #genetics #diagnostics #publication #research #cancer

🔬 Revolutionary Breakthrough: Swedish Scientists Develop Nanobots to Target Cancer Cells 🎯 𝐋𝐚𝐬𝐭 𝐜𝐡𝐚𝐧𝐜𝐞 𝐭𝐨 𝐝𝐨𝐰𝐧𝐥𝐨𝐚𝐝 𝐏𝐃𝐅 𝐁𝐫𝐨𝐜𝐡𝐮𝐫𝐞:https://lnkd.in/g7UGhh5X Exciting news from Sweden! Scientists have created nanobots that can precisely target and destroy cancer cells, leaving healthy ones untouched. This could mean fewer side effects and more effective treatments for cancer patients worldwide! 🌍 ⭐ Why It’s a Game-Changer: - Precision Treatment: Directly targets cancer cells, sparing healthy ones. - Less Suffering: Reduces side effects common in traditional therapies. - Global Impact: Potential to improve survival rates and quality of life for millions.

📣 New offering alert! We're thrilled to announce OncoPortal™ Mutation Tracker— a longitudinal #MRD tracking tool designed for disease monitoring in the context of oncology. This innovation underscores our commitment to advancing data-driven approaches for improved oncology insights. The OncoPortal™ Mutation Tracker augments the SOPHiA DDM™ Platform’s core analytical capabilities to allow clinical researchers to longitudinally monitor evolving genomic variants across multiple time points, providing a comprehensive view of disease evolution. “The ability to reliably track low frequency variants longitudinally is a game-changer because it allows the detection of even the smallest traces of cancer that can evade traditional methods of testing and ultimately drive relapse. With this new longitudinal tracking capability, we offer a highly customizable, user-friendly solution to enable the generation of novel insights for clinical research. Precise tracking of key genomic variants over time has the potential to eventually enable earlier intervention and more tailored disease management, which may lead to better long-term outcomes for patients.” said Philippe Menu, M.D., Ph.D., Chief Medical Officer and Chief Product Officer. Learn more about our offering here: https://lnkd.in/evnuPsyh #DataDrivenMedicine #OncoPortal #Oncology #Cancer

🌍 We are very proud to have recently joined the European Liquid Biopsy Society (ELBS), a prestigious network consisting of partners from academia and industry with the common goal of making liquid biopsy tests part of the routine standard of care! The ELBS pursues a holistic approach to tackling the challenges of clinical implementation in the liquid biopsy field. The network incorporates key players from academia, clinics, industry, and national government agencies to move this promising field forward collectively. 🧬 SOPHiA GENETICS offers a comprehensive suite of liquid biopsy applications that have helped progress oncology research and tumor mutation profiling. Liquid biopsy testing offers an alternative to solid tumor testing by isolating cell-free DNA (cfDNA) from blood plasma, which may uncover circulating tumor DNA (ctDNA). This non-invasive testing allows for cancer genomic profiling and disease monitoring. It reveals critical insights in many cases where genomic testing of tumor tissue may not be feasible due to insufficient tissue material, low quality of the obtained tissue, or the invasiveness of the procedure. 🔗 Learn more about the ELBS: https://loom.ly/3KD9Mic 🔗 Explore our liquid biopsy applications: https://loom.ly/DKKbXGQ #ELBS #LiquidBiopsy #Oncology Klaus Pantel

💡 Read our latest Guidelines Spotlight! This year the ESMO Precision Medicine Working Group updated their recommendations for the use of next-generation sequencing (NGS) in advanced cancer. Reflecting advances in the field of precision oncology, the recommendations were expanded to include advanced #BreastCancer and additional rare tumor types. They also encompass the detection of tumor-agnostic alterations in metastatic cancers where access to matched therapies is available. We offer NGS applications that cover key biomarkers highlighted in the recommendations, including SOPHiA DDM™ Dx Homologous Recombination Deficiency (HRD) Solution, which has been recognized by ESMO as a validated method for HRD detection in advanced ovarian cancer. Read our blog to learn more: https://loom.ly/OPxrPKY #NGS #Oncology #ESMO