Worldwide prevalence of Lynch syndrome in patients with colorectal cancer: Systematic review and meta-analysis |
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| Authors: | Nadine Abu-Ghazaleh Varun Kaushik Alexandra Gorelik Mark Jenkins Finlay Macrae |
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| Affiliation: | 1. Department of Medicine, University of Melbourne, Parkville, Victoria, Australia;2. Department of Colorectal Cancer and Genetics, Royal Melbourne Hospital, Parkville, Victoria, Australia;3. Monash Department of Clinical Epidemiology, Cabrini Institute, Malvern, Victoria, Australia;4. School of Population and Global Health, University of Melbourne, Parkville, Victoria, Australia;1. Department of Biomedical and Clinical Sciences “L. Sacco”, University of Milan, Milan, Italy;2. Pediatric Radiology and Neuroradiology Department, Vittore Buzzi Children’s Hospital, Milan, Italy;3. COALA (Center for diagnosis and treatment of leukodystrophies), Vittore Buzzi Children''s Hospital, Milan, Italy;4. Child Neuropsychiatry Unit, UONPIA ASST Rhodense, Milan, Italy;5. Pediatric Clinical Research Center Fondazione Romeo ed Enrica Invernizzi, University of Milan, Milan, Italy;6. Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, Vrije Universiteit Amsterdam, University of Amsterdam, Amsterdam, The Netherlands;7. Molecular Genetics Section, Medical Genetics Laboratory, Papa Giovanni XXIII Hospital, Bergamo, Italy;8. Child Neurology Unit, Vittore Buzzi Children''s Hospital, Milan, Italy;1. School of Women’s and Children’s Health, University of New South Wales, Randwick, New South Wales, Australia;2. Centre for Clinical Genetics, Sydney Children’s Hospital, Randwick, New South Wales, Australia;3. Sydney Health Ethics, Sydney School of Public Health, Faculty of Medicine and Health, The University of Sydney, New South Wales, Australia;4. Victorian Clinical Genetics Services, Parkville, Victoria, Australia;5. Murdoch Children’s Research Institute, Parkville, Victoria, Australia;6. UWA Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia;7. Harry Perkins Institute of Medical Research, Nedlands, Western Australia, Australia;8. NSW Health Pathology East Genomics Laboratory, Randwick, New South Wales, Australia;1. Kaiser Permanente of Washington, Seattle, WA;2. Geisinger, Danville, PA;3. Columbia University, New York, NY;4. Northwestern University, Evanston IL;5. Vanderbilt University Medical Center, Nashville, TN;6. Harvard University, Cambridge, MA;7. University of Washington, Seattle, WA;8. National Institutes of Health, Bethesda, MD;9. Children’s Hospital of Philadelphia, Philadelphia, PA;10. Kaiser Permanente Washington Health Research Institute, Seattle, WA;11. Boston Children’s Hospital, Boston, MA;12. Mayo Clinic, Rochester, MN;13. Baptist Memorial Health Center, Memphis, TN;14. Cincinnati Children’s Hospital and Medical Center, Cincinnati, OH;15. Meharry Medical College, Nashville, TN;16. Arizona State University, Tempe, AZ;1. Department of Obstetrics and Gynecology, Northwestern University Feinberg School of Medicine, Chicago, IL;2. Departments of Pathology and Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA;3. Center for Medical Genetics and Genomics, UPMC Magee-Womens Hospital, Pittsburgh, PA;4. Department of Obstetrics & Gynecology and Women’s Health, Montefiore Medical Center, Albert Einstein College of Medicine, New York, NY;5. Department of Obstetrics and Gynecology, Prisma Health, Columbia, SC;1. amedes MVZ wagnerstibbe, Hannover, Germany;2. Medizinische Hochschule Hannover, Hanover, Germany;3. Institute of Medical Informatics and Statistics, Kiel University, University Hospital Schleswig-Holstein Campus Kiel, Kiel, Germany;1. Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA;2. Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA;3. Department of Neuropediatrics, Jena University Hospital, Jena, Germany;4. Center for Rare Diseases, Jena University Hospital, Jena, Germany |
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| Abstract: | ![]()
PurposeLynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome, with an estimated prevalence of 2% to 3% of CRC. A prevalence study is needed to provide accurate estimates of the true prevalence of LS.MethodsMEDLINE (Ovid), Embase, and Web of Science were searched. Prevalence was calculated by random effects meta-analysis models. I2 score was used to assess heterogeneity across studies. Meta-regression was performed for between-study variance.ResultsA total of 51 studies were included in this review. The overall pooled yield of LS screening was 2.2% based on all methods of detection. Studies performing germline tests on all participants with CRC reported higher prevalence (5.1%) as opposed to studies only performing germline tests on participants with tumors with mismatch repair deficiency (1.6%) or microsatellite instability (1.1%). Selected cohorts of CRC had a higher prevalence of germline LS diagnoses.ConclusionLS prevalence across multiple ethnic, geographic, and clinical populations is remarkably similar. Universal germline testing of patients presenting with cancer identifies that most CRCs are attributed to LS. Young patients presenting with CRC and those who fulfill criteria for a familial risk provide the highest returns for LS identification. Our study supports the universal germline CRC screening for LS. |
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| Keywords: | Colorectal cancer Germline mutations Lynch syndrome Prevalence |
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