Hereditary Nonpolyposis Colorectal Cancer

Genetic testing to identify women with Lynch Syndrome is likely to need to increase dramatically to ensure that carriers are not missed, a new analysis has found. A study by The Institute of Cancer Research, London, and published in the Journal of Medical Genetics, has revealed that only a fraction of women diagnosed with endometrial (womb) cancer were tested for Lynch Syndrome in 2019, according to an analysis of lab data. Lynch Syndrome is an inherited condition that greatly increases the lifetime risk of certain types of cancer, including bowel, ovarian, pancreatic and womb cancers. It is thought to affect 175,000 people in England, although currently only approximately five per cent are aware they have it. Because womb cancer is often the first cancer that women with Lynch Syndrome develop, genetic testing is an effective way to spot cases. In 2020, the National Institute for Health and Care Excellence (NICE) introduced guidelines which recommended that everyone diagnosed with womb cancer should be tested for Lynch. However, a baseline analysis, carried out by a team from The Institute of Cancer Research (ICR) found that of the 7,928 women who were diagnosed with womb cancer in 2019, just 1408 (17.8 per cent) were given a tumour test (typically an immunohistochemistry (IHC) test) to check for abnormal cells. Of the 104 patients who were then identified as being eligible for genetic testing, only 25 per cent had a test result recorded. Of these 26 patients, 15 had Lynch Syndrome. The study, which received funding from The Wellcome Trust, and Cancer Research UK, and was conducted in partnership with the National Disease Registration Service, also showed there were significant delays between patients getting their cancer diagnosis and receiving a genetic test. The median time from cancer diagnosis to germline testing was 315 days, with the longest wait time from diagnosis to testing at over two years (837 days). Earlier this year, the National Disease Registration Service (NDRS), NHS Genomic Medicine Service Alliances (GMSAs) and NHS Regional Clinical Genetics Services, together with researchers from the ICR, set up The English National Lynch Syndrome Registry. The database, which comprises of 9,000 patients with Lynch Syndrome, will ensure participants are called up for regular bowel cancer screening to detect the disease in earlier stages, when treatment is more successful. In addition, researchers will be able to find patients who are eligible for clinical trials, speeding up the process and ensuring that treatments can reach patients faster. Dr Catherine Huntley, a specialist public health doctor at The Institute of Cancer Research, who conducted the analyses, said: “For female patients with Lynch Syndrome, endometrial cancer is often their first cancer diagnosis. Tumour testing followed by genetic testing is an effective way of identifying the three per cent of cases – approximately 240 people with endometrial cancer – every year caused by Lynch Syndrome. “However, our study shows that historically, testing rates appeared to be very low. It’s imperative that women with endometrial cancer have routine testing of their tumours to prevent opportunities to diagnose Lynch Syndrome being missed. Identifying patients with Lynch Syndrome provides us with a valuable opportunity to prevent further cancers in that patient. Delays in starting preventative strategies such as taking aspirin and having regular colonoscopies could lead to bowel cancers being diagnosed at later stages when they are much harder to treat. Professor Clare Turnbull, Professor of Translational Cancer Genetics at The Institute of Cancer Research, London, and Consultant in Clinical Cancer Genetics at The Royal Marsden NHS Foundation Trust, who led the analysis, said: “Having a Lynch Syndrome diagnosis helps to guide more personalised cancer treatment but also enables families and relatives of that patient to be offered testing too. Relatives who have Lynch Syndrome can be referred to genetic services to help catch any cancers as early as possible.”

LOS ANGELES, Dec. 18, 2024 /PRNewswire/ -- Pharus Diagnostics LLC. (PharusDx), an innovator in non-invasive diagnostic tests, today announced a significant step forward in the fight against pancreatic cancer. The company is announcing availability of its OncoSweep™ Pancreas Spotlight, a liquid biopsy screening test that aids in the detection of Pancreatic Ductal Adenocarcinoma (PDAC) in people with elevated risk. The test uses a simple blood sample, next-generation sequencing, and a proprietary machine learning pipeline to analyze levels of microRNA and CA19-9 biomarkers. In January of 2024, PharusDx entered into an exclusive global licensing agreement with City of Hope, one of the largest and most advanced cancer research and treatment organizations in the United States with a Los Angeles comprehensive cancer center ranked among the nation's top 5 cancer centers by U.S. News & World Report, for a proprietary panel of microRNA (miRNA) biomarkers with testing data demonstrating potential value for early detection of PDAC. OncoSweep™ Pancreas Spotlight builds on the biomarker panel and approach from City of Hope, moving the translational academic findings into a Laboratory Developed Test (LDT). This effort leverages PharusDx's OncoSweep™ liquid biopsy platform and City of Hope's groundbreaking early cancer detection research led by Dr. Ajay Goel, Chair of City of Hope's Department of Molecular Diagnostics and Experimental Therapeutics. "We have been hard at work validating our pancreatic cancer miRNA biomarker panel and have now completed CLIA[1] LDT validation of our test, an exciting milestone for the company and people at-risk who have limited options for early detection of this devastating disease" explained CEO Philip Huang. "We are thrilled to bring this potentially life-saving technology developed by PharusDx, based on translational research findings from City of Hope, to market," said Bowei Lee, Chairman of PharusDx. "An accurate early detection tool can significantly improve outcomes for people with PDAC, particularly when surgical intervention remains a viable option." Combating a Deadly Disease PDAC is an aggressive form of cancer with a dismal prognosis. Due to its location within the body and lack of early symptoms, the disease is often diagnosed at an advanced stage, significantly reducing survival rates. Most PDAC is detected at stage IV when there is just a 3%[2],[3] five-year survival rate. If the disease is caught at stage I, the five-year survival jumps to over 40%[2], a greater than 10-fold increase. Those at increased risk for PDAC include people with Lynch syndrome, Peutz-Jeghers syndrome, new-onset diabetes (after 50 yrs old), pancreatic cysts, chronic pancreatitis, certain mutations in BRCA1/2, PRSS1, ATM, TP53, those with first degree relatives as well as those with certain lifestyle risk factors such as smoking, alcohol abuse, or obesity. A Brighter Future for Patients PharusDx's new OncoSweep™ Pancreas Spotlight LDT has the potential to significantly improve outcomes by offering a non-invasive and accurate screening method for early-detection. The development of this LDT, in conjunction with PacificDx (a CLIA-accredited laboratory) in Irvine, California, aligns with PharusDx's commitment to advancing early cancer detection. By offering a simple blood test for PDAC, the company aims to empower individuals at risk for the disease to undergo regular monitoring to detect early-stage disease when they have the most options for treatment. References and Notes About PharusDx PharusDx is at the forefront of healthcare innovation, specializing in advanced diagnostic technologies. Founded in 2022, our mission is to detect cancer early to help provide more treatment options and improve patient outcomes. Our focus is to create exceptionally precise and accurate tests by integrating liquid biopsies, advanced biomarkers and machine learning. OncoSweep™ early detection tests are designed to be convenient and accessible, with the patient always at the center. For more information on PharusDx visit or connect on LinkedIn: For media/investor inquiries/partnership, please contact: [email protected] Conflict of Interest Statement: Dr. Goel is a compensated PharusDX advisory board member and as an inventor of the technology licensed to the company by City of Hope, is entitled to royalty payments from the company. SOURCE Pharus Diagnostics WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED

December 16th, 2024 We are excited to announce that Dr Antoni Castells Garangou, MD, PhD, has joined our Scientific Board! Dr Castells is a renowned specialist in Gastroenterology with a distinguished career in colorectal cancer research and prevention. From February 2010 to December 2015, he served as the director of the Institute of Digestive and Metabolic Diseases at Hospital Clínic of Barcelona, Spain’s leading center in Gastroenterology, Hepatology, and Digestive Surgery. In 2016, he was appointed Medical Director of the hospital, and in January 2024, he took on the newly created role of Chief Clinical Officer. His professional focus has been on colorectal neoplasms, covering diagnosis, therapeutics, and prevention, and he is the co-coordinator of Barcelona’s Colorectal Cancer Screening Program. Dr Castells’ research has been developed at the Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) and the Centro de Investigación Biomédica en Enfermedades Hepáticas y Digestivas (CIBERehd). He directs the Gastrointestinal and Pancreatic Oncology Research Team at both institutions. His research achievements include co-leading the EPICOLON consortium, a nationwide project focused on hereditary and familial colorectal cancer in Spain, and co-principal investigator of the COLONPREV project, which developed strategies for colorectal cancer screening in average-risk populations. Dr Castells is also a Full Professor of Gastroenterology at the University of Barcelona, School of Medicine. We are honored to have Dr Castells’ unparalleled expertise on our Scientific Board and look forward to his contributions in driving innovation in oncology.