Who Should Have Genetic Testing for the Lynch Syndrome?
Authors: Randall W. Burt
Journal: Annals of Internal Medicine (2011)

Editorials19 July 2011Who Should Have Genetic Testing for the Lynch Syndrome?Randall W. Burt, MDRandall W. Burt, MDFrom University of Utah and Huntsman Cancer Institute, Salt Lake City, UT 84112.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-155-2-201107190-00009 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Determining who should have genetic testing for the Lynch syndrome remains problematic. The inherited polyposis syndromes usually exhibit characteristic phenotypes to guide initial genetic testing in a family. But distinctive features of the Lynch syndrome are seldom apparent in individual patients (1). Thus, the syndrome is usually suspected on the basis of a strong family history of colon cancer and other types of cancer.The Amsterdam criteria were developed to identify persons and families who are likely to have the syndrome. The criteria include the following: 3 relatives in a family must have colorectal cancer, and 2 of them must ...References1. Jasperson KW, Tuohy TM, Neklason DW, Burt RW. Hereditary and familial colon cancer. Gastroenterology. 2010;138:2044-58. [PMID: 20420945] CrossrefMedlineGoogle Scholar2. Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum. 1991;34:424-5. [PMID: 2022152] CrossrefMedlineGoogle Scholar3. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999;116:1453-6. [PMID: 10348829] CrossrefMedlineGoogle Scholar4. Umar A, Risinger JI, Hawk ET, Barrett JC. Testing guidelines for hereditary non-polyposis colorectal cancer. Nat Rev Cancer. 2004;4:153-8. [PMID: 14964310] CrossrefMedlineGoogle Scholar5. 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[PMID: 20084010] CrossrefMedlineGoogle Scholar9. Vasen HF, Möslein G, Alonso A, Aretz S, Bernstein I, Bertario L, et al. Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Fam Cancer. 2010;9:109-15. [PMID: 19763885] CrossrefMedlineGoogle Scholar10. Dinh TA, Rosner BI, Atwood JC, Boland CR, Syngal S, Vasen HF, et al. Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population. Cancer Prev Res (Phila). 2011;4:9-22. [PMID: 21088223] CrossrefMedlineGoogle Scholar11. Kastrinos F, Steyerberg EW, Mercado R, Balmaña J, Holter S, Gallinger S, et al. The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history. Gastroenterology. 2011;140:73-81. [PMID: 20727894] CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAuthors: Randall W. Burt, MDAffiliations: From University of Utah and Huntsman Cancer Institute, Salt Lake City, UT 84112.Disclosures: Disclosures can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=M11-1308.Corresponding Author: Randall W. Burt, MD, Division of Gastroenterology, Department of Internal Medicine, University of Utah School of Medicine, Huntsman Cancer Institute at the University of Utah, 2000 Circle of Hope, Room 5164, Salt Lake City, UT 84112; e-mail, randall.[email protected]utah.edu. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetailsSee AlsoStrategies to Identify the Lynch Syndrome Among Patients With Colorectal Cancer Uri Ladabaum , Grace Wang , Jonathan Terdiman , Amie Blanco , Miriam Kuppermann , C. Richard Boland , James Ford , Elena Elkin , and Kathryn A. Phillips Metrics Cited byMolecular mutation characteristics of mismatch and homologous recombination repair genes in gastrointestinal cancerCancers Arising in the OvaryPersonalized healthcare in the era of value-based healthcareStrategies to Identify the Lynch Syndrome Among Patients With Colorectal Cancer: A Cost-Effectiveness AnalysisThe Genetic Counselor 19 July 2011Volume 155, Issue 2Page: 127-128KeywordsAlgorithmsCancer geneticsColorectal cancerGastric cancerGenetic testingHereditary nonpolyposis colorectal cancerImmunohistochemistryMethylationMismatch repairUterine cancer ePublished: 19 July 2011 Issue Published: 19 July 2011 Copyright & PermissionsCopyright © 2011 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...