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Health Line
2 days ago
- Health
- Health Line
Ask the Expert: Should I have Biomarker Testing – and Would it Help?
Biomarker testing in colorectal cancer can help assess inherited risk and identify characteristics that may influence the disease's growth, spread, and response to treatment. Colorectal cancer (CRC) starts in the colon or rectum of the large intestine. Your doctor may refer to it as 'colon cancer' or 'rectal cancer,' depending on where the cancer develops first, but both of these diagnoses are included under the banner of CRC. CRC is treatable, and biomarker testing is a part of precision medicine in your comprehensive treatment plan. Biomarker testing in CRC can help detect cancer in its earliest, most treatable stages. It can also provide important details about cancer after a diagnosis that influence treatment and outcomes. Dr. Smitha Krishnamurthi, a gastrointestinal oncology specialist with the Cleveland Clinic, talks with Healthline about biomarker testing and who it's recommended for. What is biomarker testing? Biomarker testing refers to testing of the colorectal cancer to find out if there are certain changes in the cancer's genes and proteins that could impact prognosis [outlook] and treatment. What are the most common biomarkers, and what do they show? Biomarkers in CRC measure a variety of different biological processes and states. Each biomarker provides important details about the cancer's growth, spread, or treatment response. DNA mismatch repair Hospital pathology labs now commonly test all initial biopsies or surgical specimens of colorectal cancer for the presence of DNA mismatch repair proteins. This is done via immunohistochemistry (IHC) staining of the slides to look for [the] expression of four mismatch repair proteins: MLH1, PMS2, MSH2, and MSH6. If one or two of these proteins are missing, then the cancer has deficient DNA mismatch repair. Microsatellite instability (MSI) This is a polymerase chain reaction (PCR) or next-generation sequencing (NGS) test [that looks] for abnormalities in microsatellite regions of the cancer DNA. The test can be done on a tumor specimen or blood (liquid biopsy). Microsatellites are short, repeated sequences of DNA. If the cancer has [atypical] DNA mismatch repair, errors will appear in microsatellite regions of DNA in the form of missing bases or extra bases added to the DNA sequence. RAS gene mutations (mutations in KRAS and NRAS genes) This testing can be performed by PCR or NGS testing of the tumor or NGS testing of blood (liquid biopsy). RAS is a very important oncogene, meaning that it is a gene that, when mutated, drives cancer cell proliferation and survival. Mutations in RAS genes are found in up to 50% of colorectal cancers. BRAF V600E gene mutation This testing can be performed by PCR or NGS testing of the tumor or NGS testing of blood (liquid biopsy). The BRAF V600E protein can also be detected by IHC. BRAF is another oncogene, so when it is mutated, it leads to cancer cell proliferation and survival. BRAF V600E mutations occur in about 8% to 10% of colorectal cancers and are more common in right-sided cancers. HER2 protein overexpression by IHC or gene amplification by NGS HER2 is another oncogene — gene amplification leads to [the] overexpression of the HER2 protein. Overexpression of HER2 leads to increased signaling via the epidermal growth factor receptor pathway, leading to cancer cell proliferation and survival. PIK3CA PIK3CA is another oncogene. Mutations in PIK3CA and a related gene, PIK3R1, lead to cancer cell proliferation and survival. Mutations in PIK3CA and PIK3R1 are typically found via NGS. PTEN PTEN is a tumor suppressor gene, [which typically] suppresses cancer growth. When the PTEN gene is mutated, the protein is not expressed, and that leads to [the] proliferation of cancer. PTEN gene mutations are typically found via NGS. Who should have biomarker testing done? All patients with colorectal cancer should have testing of their cancer for DNA mismatch repair (or microsatellite instability) soon after diagnosis. This is important for patients with cancers of all stages. Patients with early stage colorectal cancer should have testing of their cancers for mutations in PIK3CA, PTEN, and PIK3R1 by the time they finish adjuvant treatment or after surgery if [they're] not having adjuvant treatment. Patients with metastatic colorectal cancer should have next-generation sequencing of the cancer soon after diagnosis, as the results may impact the initial systemic treatment. The NGS results are also useful for identifying clinical trial eligibility. Comorbidities will not affect the results of these biomarkers, so they should not affect the timing and decision making about ordering these tests. How does biomarker testing help the treatment and outcome of a diagnosis? Biomarkers can impact your treatment choices and outcomes. They can help doctors decide which medications will be the most effective, identify inherited features in cancer, and determine if adjuvant or additional therapies would improve outcomes. Immunotherapy responsiveness It is critical to know if a cancer has deficient DNA mismatch repair (dMMR) or high microsatellite instability (MSI-H) because these cancers can respond dramatically to immunotherapy in the early stage and metastatic settings. For example, patients with rectal cancer that is dMMR or MSI-H may have a complete clinical response with immunotherapy and may be able to avoid radiation and surgery. Thus, this testing needs to be done early, before treatment starts. Identifying Lynch syndrome Another important reason for testing for dMMR or MSI-H is to identify cancers caused by Lynch syndrome. Lynch syndrome is the most common type of inherited colorectal cancer and is caused by germline mutations in the genes that code for the DNA mismatch repair proteins or in another related gene called EPCAM. Most cancers with deficient mismatch repair or MSI-H are not caused by Lynch syndrome and occur sporadically. We don't want to miss patients with Lynch syndrome, however, because they can benefit from counseling about [the] prevention of Lynch syndrome-related cancers such as uterine cancer, ovarian cancer, and gastric cancer, in addition to colorectal cancer. When a patient is diagnosed with Lynch syndrome, family members can then be tested to see if they have Lynch syndrome. Recommendations for cancer screening at early stages are made for individuals with Lynch syndrome, and early screening can be lifesaving. Identifying treatment resistance Mutations in KRAS and NRAS make cancers resistant to anti-epidermal growth factor receptor therapy. Cancers with KRAS G12C mutations can be treated with a regimen that targets this mutation (adagrasib plus cetuximab or sotorasib plus panitumumab). There are also many clinical trials now studying RAS gene inhibitors in patients with metastatic colorectal cancer that have been previously treated. Cancers with BRAF V600E tend to be aggressive and less sensitive to chemotherapy. There is a Food and Drug Administration (FDA)-approved regimen targeting BRAF V600E (encorafenib plus cetuximab) in metastatic colorectal cancer that improves survival when added to first-line FOLFOX chemotherapy. It also improves survival as a second-line treatment after chemotherapy. Greater response to targeted and adjuvant therapy Metastatic colorectal cancers that demonstrate [the] overexpression or gene amplification of HER2 can be treated with a targeted regimen of tucatinib plus trastuzumab after initial chemotherapy. Another targeted treatment available for metastatic colorectal cancers that overexpress HER2 by IHC is trastuzumab deruxtecan. Patients with early stage colorectal cancer with mutations in the PIK3CA, PIK3R1, or PTEN genes should be treated with aspirin 160 milligrams daily for 3 years after adjuvant therapy or after surgery if [they're] not having adjuvant therapy. The ALASCCA trial, presented at ASCO GI [American Society of Clinical Oncology – Gastrointestinal Cancer] in 2025, compared a placebo to aspirin in this patient population and found that aspirin significantly lowered the rate of cancer recurrence at 3 years. This is rather new data. Oncologists are starting to order NGS testing for patients with early stage cancers in order to obtain this biomarker information. What should you ask your doctor? It's always OK to ask your doctor about biomarker testing and what it means for you. Important questions to consider include: Is my cancer dMMR/MSI-H? Am I a candidate for immunotherapy? Patients with early stage colorectal cancer should ask if aspirin therapy will be recommended based on biomarker testing. Patients with metastatic colorectal cancer should ask for the results of RAS/BRAF/HER2 testing and overall NGS testing results.
Yahoo
23-05-2025
- Business
- Yahoo
Trends Shaping the Barrett's Esophagus (BE) Industry, 2025-2030: Technological Advances in Diagnostics Elevate BE Surveillance
Dublin, May 23, 2025 (GLOBE NEWSWIRE) -- The "Barrett's Esophagus - Global Strategic Business Report" has been added to global market for Barrett's Esophagus was valued at US$4.9 Billion in 2024 and is projected to reach US$6.1 Billion by 2030, growing at a CAGR of 3.9% from 2024 to 2030. This comprehensive report provides an in-depth analysis of market trends, drivers, and forecasts, helping you make informed business decisions. The report includes the most recent global tariff developments and how they impact the Barrett's Esophagus growth in the Barrett's Esophagus market is underpinned by a confluence of epidemiological, technological, and policy drivers. Increasing GERD burden, combined with greater public and physician awareness of BE-cancer progression risks, is elevating demand for routine screening and early intervention. Health systems are recognizing the cost-effectiveness of preventing esophageal cancer through proactive BE management, prompting wider adoption of minimally invasive diagnostics and ablation endorsements of new imaging and therapeutic tools, coupled with industry efforts to bundle diagnostic and treatment platforms, are streamlining the care pathway. Cross-disciplinary collaboration and data-sharing via registries are enhancing outcome transparency and evidence-based decision-making. As healthcare moves toward precision medicine and value-based care, a critical question emerges: Can the BE market continue to integrate early detection with personalized intervention strategies to deliver scalable, cost-effective cancer prevention across global care settings?Report ScopeThe report analyzes the Barrett's Esophagus market, presented in terms of market value (US$ Thousand). The analysis covers the key segments and geographic regions outlined Drug Class (Proton Pump Inhibitors, H2 Receptor Antagonists, Mucosal Protective Agents, Other Drug Classes); Distribution Channel (Hospital Pharmacies, Retail Pharmacies, Online Pharmacies).Geographic Regions/Countries: World; United States; Canada; Japan; China; Europe (France; Germany; Italy; United Kingdom; Spain; Russia; and Rest of Europe); Asia-Pacific (Australia; India; South Korea; and Rest of Asia-Pacific); Latin America (Argentina; Brazil; Mexico; and Rest of Latin America); Middle East (Iran; Israel; Saudi Arabia; United Arab Emirates; and Rest of Middle East); and Insights: Market Growth: Understand the significant growth trajectory of the Proton Pump Inhibitors segment, which is expected to reach US$2.4 Billion by 2030 with a CAGR of a 2.9%. The H2 Receptor Antagonists segment is also set to grow at 4.7% CAGR over the analysis period. Regional Analysis: Gain insights into the U.S. market, valued at $1.3 Billion in 2024, and China, forecasted to grow at an impressive 6.9% CAGR to reach $1.2 Billion by 2030. Discover growth trends in other key regions, including Japan, Canada, Germany, and the Asia-Pacific. Key Questions Answered: How is the Global Barrett's Esophagus Market expected to evolve by 2030? What are the main drivers and restraints affecting the market? Which market segments will grow the most over the forecast period? How will market shares for different regions and segments change by 2030? Who are the leading players in the market, and what are their prospects? Report Features: Comprehensive Market Data: Independent analysis of annual sales and market forecasts in US$ Million from 2024 to 2030. In-Depth Regional Analysis: Detailed insights into key markets, including the U.S., China, Japan, Canada, Europe, Asia-Pacific, Latin America, Middle East, and Africa. Company Profiles: Coverage of players such as AbbVie Inc., Abbott Laboratories, Addex Therapeutics Ltd., Aurobindo Pharma Ltd., Bayer AG and more. Complimentary Updates: Receive free report updates for one year to keep you informed of the latest market developments. Some of the 34 companies featured in this Barrett's Esophagus market report include: AbbVie Inc. Abbott Laboratories Addex Therapeutics Ltd. Aurobindo Pharma Ltd. Bayer AG Boehringer Ingelheim GmbH Boston Scientific Corporation Castle Biosciences Cipla Inc. Cook Medical Inc. Dr. Reddy's Laboratories Ltd. Eisai Co., Ltd. Eli Lilly and Company F. Hoffmann-La Roche Ltd. GlaxoSmithKline plc Johnson & Johnson Lupin Limited Medtronic plc Merck & Co., Inc. Novartis AG Tariff Impact Analysis: Key Insights for 2025Global tariff negotiations across 180+ countries are reshaping supply chains, costs, and competitiveness. This report reflects the latest developments as of April 2025 and incorporates forward-looking insights into the market analysts continuously track trade developments worldwide, drawing insights from leading global economists and over 200 industry and policy institutions, including think tanks, trade organizations, and national economic advisory bodies. This intelligence is integrated into forecasting models to provide timely, data-driven analysis of emerging risks and Included in This Edition: Tariff-adjusted market forecasts by region and segment Analysis of cost and supply chain implications by sourcing and trade exposure Strategic insights into geographic shifts Buyers receive a free July 2025 update with: Finalized tariff impacts and new trade agreement effects Updated projections reflecting global sourcing and cost shifts Expanded country-specific coverage across the industry Key Attributes Report Attribute Details No. of Pages 274 Forecast Period 2024-2030 Estimated Market Value (USD) in 2024 $4.9 Billion Forecasted Market Value (USD) by 2030 $6.1 Billion Compound Annual Growth Rate 3.9% Regions Covered Global MARKET OVERVIEW Influencer Market Insights World Market Trajectories Barrett's Esophagus Global Key Competitors Percentage Market Share in 2025 (E) Competitive Market Presence Strong/Active/Niche/Trivial for Players Worldwide in 2025 (E) MARKET TRENDS & DRIVERS Rising GERD Prevalence Drives Demand for Early Screening and Diagnosis of Barrett's Esophagus Advancements in Endoscopic Imaging and Biopsy Tools Improve Detection Accuracy High-Risk Patient Monitoring Through Surveillance Programs Fuels Use of Specialized Devices Minimally Invasive Treatment Modalities Like RFA and Cryotherapy Expand Therapeutic Reach Clinical Guidelines Emphasize Early Intervention to Prevent Progression to Esophageal Adenocarcinoma Biomarker Research Enhances Risk Stratification and Personalized Surveillance Protocols Growing Awareness of Barrett's Risk Factors Spurs Referrals From Primary Care to GI Specialists EHR Integration and Registry Participation Improve Patient Tracking and Longitudinal Outcomes AI-Based Image Analysis Tools Support Enhanced Detection in Diagnostic Endoscopy Device Manufacturers Focus on Comfort, Precision, and Workflow Efficiency in Diagnostic Kits Health System Adoption of Barrett's Pathways Improves Standardization of Care Delivery Expansion of Digestive Health Programs in Hospitals Elevates Focus on Esophageal Precancers For more information about this report visit About is the world's leading source for international market research reports and market data. We provide you with the latest data on international and regional markets, key industries, the top companies, new products and the latest trends. CONTACT: CONTACT: Laura Wood,Senior Press Manager press@ For E.S.T Office Hours Call 1-917-300-0470 For U.S./ CAN Toll Free Call 1-800-526-8630 For GMT Office Hours Call +353-1-416-8900Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
Geek Wire
21-05-2025
- Health
- Geek Wire
Researchers develop a new set of genetic tools designed to treat brain diseases
This color-coded graphic shows different populations of cells in the mouse brain, each one targeted by one of the genetic tools developed by scientists at the Allen Institute and other institutions. (Allen Institute Graphic) Scientists say they've put together a new kind of molecular toolkit that could eventually be used to treat a variety of brain diseases, possibly including epilepsy, sleep disorders and Huntington's disease. The kit currently contains more than 1,000 tools of a type known as enhancer AAV vectors, with AAV standing for 'adeno-associated virus.' A consortium that included researchers from Seattle's Allen Institute for Brain Science and the University of Washington combined harmless adeno-associated viruses with snippets of engineered DNA to create a gene-therapy package that could target specific neurons in the brain while having no effect on other cells. Researchers laid out their findings in a set of eight studies published today in the Cell Press family of journals. The work is part of a project called the Armamentarium for Precision Brain Cell Access, funded through the National Institutes of Health's BRAIN Initiative. 'Honing in on the right cells — in the right way and at the right time — is the future of precision brain medicine,' John Ngai, director of the BRAIN Initiative, said in a news release. 'These tools move us closer to that future, while also expanding what we know about the brain's cells and circuits today.' Jonathan Ting, one of the study authors and an associate investigator at the Allen Institute, noted that enhancer AAV vectors have been used before to target cells in the brain and other tissues such as the heart and liver. In March, for example, a team led by researchers at the Allen Institute and Seattle Children's Research Institute described an AAV vector that shows promise for treating Dravet syndrome, a genetic disorder that causes a severe form of epilepsy. 'What is unique about this new collection is the immense scale of new cell-type targeting tools,' Ting told GeekWire in an email. 'Rather than a trickle of tools for the purpose of advancing understanding of the brain, now we have what amounts to a tidal wave of new tools to access and perturb cell function across a remarkable diversity of cell types in multiple brain regions and the spinal cord.' Different enhancer AAV vectors were engineered to target different cell types in different regions of the central nervous system, including the spinal cord, the cortex and the striatum. That specificity could open new avenues for targeted treatment. For example, dysfunction in the striatum is linked to movement disorders such as Parkinson's and Huntington's disease — and may also play a role in drug addiction. 'There is an overall principle that diseases usually arise from flaws in specific cell types, not the whole organism. For example, epilepsy is a nervous system disease that is actually a disease of specific neurons in the nervous system,' said study author Bosiljka Tasic, director of molecular genetics at the Allen Institute. 'If you want to fix those neurons, you can try to access only those neurons. The key is this cell-type-specific access for understanding and perturbing brain cells to figure out their function, and for correcting and fixing the defective parts of these cells.' The cover of the journal Neuron features research into 'molecular switches' that can target specific types of brain cells. (Cell Press) One study documented how one of the molecular tools targeted a rare type of cell that regulates sleep. 'It is reasonable to speculate that this tool and various derivative tools could be used to better understand the central control of sleep, or to intervene in cases of sleep disturbance disorders in humans,' Ting told GeekWire. 'The exact applications remain to be determined.' The experiments described in the studies were conducted on mice, rats and macaque monkeys, plus tissue samples from those species as well as from marmosets and humans. One of the studies used machine-learning models to identify the most promising enhancer for targeting a specific region of the rhesus monkey brain. That region, known as the dorsolateral prefrontal cortex, is associated in humans with working memory and impulse control. In the short term, the new toolkit should help researchers use animal models to gain new insights into the workings of the different types of cells in the central nervous system, and learn how to switch specific functions of those cells on or off. Gordon Fishell, a professor of neurobiology at Harvard and the Broad Institute, said that gaining access to a variety of cell types will be a 'game-changer in understanding the brain and developing therapies for human neurological disorders.' It may take a while for clinical applications to emerge. 'The time horizon is unclear for how fast any of these novel approaches can advance to the clinic, but we expect to see advances along these lines relatively quickly, as in the next two to three years,' Ting said. 'This may take the form of developing a 'Version 2.0' approach to a failed Version 1.0 strategy that didn't target cell types and yielded some disappointing outcomes.' Ting and his colleagues expect to improve the safety and efficacy of their tools as they become more familiar with the toolkit. 'We expect this scenario will play out for many diverse CNS [central nervous system] disorders into the future,' he said. In addition to the Allen Institute for Brain Science and the University of Washington, the institutions collaborating in the studies published today include the Broad Institute, Harvard Medical School, Duke University, the University of California at Irvine, the University of California at Berkeley, the University of Pittsburgh, Carnegie Mellon University, Stanford University and Addgene. The tools and data in the studies are freely available on the Allen Institute's Genetic Tools Atlas and through Addgene.
CNA
19-05-2025
- Health
- CNA
Prehistoric Asians walked over 20,000km from North Asia to South America: NTU genomics study
A new study has found that prehistoric Asians migrated over 20,000km from North Asia to South America. This not only shaped the genetic landscape in the region, but might also change the game for precision medicine. Researchers from the Nanyang Technological University traced the path of these early humans and discovered that they overcame extreme environmental challenges over thousands of years. This reduced the genetic diversity of the population and hence, their ability to fight infectious diseases. Two of the study's authors, Associate Professor Kim Hie Lim and Professor Stephan Schuster, shared more about their findings.
Medscape
15-05-2025
- Health
- Medscape
Conference MDAngle: ASCO 2025 Metastatic Breast Cancer
Preconference Considerations ASCO 2025: Previewing Updates in Metastatic Breast Cancer Dr McArthur is eager to attend the 2025 ASCO Annual Meeting, where key breast cancer studies will be presented. Highlights include DESTINY-Breast09 and ASCENT-04, showing promising results for antibody-drug conjugates in HER2-positive and triple-negative breast cancer. Additionally, EMBER-3, INAVO120, and VERITAC-2 offer new insights into targeted therapies for HR-positive disease. Dr McArthur sees these findings as advancing precision medicine. Quick Clinical Takeaways Coming soon: Dr McArthur highlights new data and progress regarding metastatic breast cancer immediately following ASCO. How Will My Patients Benefit? Coming soon: Reflections from Dr McArthur on how new data from ASCO will affect her patients with metastatic breast cancer. Image 1: Heather McArthur, MD, MPH
