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Shilpa Grover and Sapna Syngal

-degree relative has CRC or a first-degree relative has a colorectal adenoma. 4 , 5 Among CRC cases, 3% to 5% are caused by highly penetrant inherited syndromes, including Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC), familial adenomatous

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Heather Hampel

and their relatives. The best example of this is the current movement to screen all patients with newly diagnosed colorectal cancer for Lynch syndrome using microsatellite instability (MSI) testing or immunohistochemistry (IHC) staining for the

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Sean Dineen, Patrick M. Lynch, Miguel A. Rodriguez-Bigas, Sarah Bannon, Melissa Taggart, Colleen Reeves, Cathy Modaro, Michael Overman, George J. Chang, John M. Skibber and Y. Nancy You

. 6 , 7 The most common hereditary syndrome is Lynch syndrome (LS). Patients with LS face elevated lifetime risks for CRC and other cancers, including endometrial, gastric, small bowel, hepatobiliary, and urothelial cancers. 8 , 9 Identification of

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Heather Hampel

CRC be screened for Lynch syndrome (previously called hereditary nonpolyposis CRC), which occurs in 1 of 35 of these patients. Surveys have shown that approximately three-fourths of NCCN Member Institutions are already adhering to this new

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Christina Rybak and Michael J. Hall

cancers, polyposis, family history of syndrome-specific malignancies, and certain histologic features. In the absence of polyposis, the genetic testing algorithm for hereditary CRC focuses largely on identifying Lynch syndrome (LS), also known as

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Jeremy Matloff, Aimee Lucas, Alexandros D. Polydorides and Steven H. Itzkowitz

Lynch syndrome (LS), first recognized by the characterization of “Family G” 1 , 2 and other “cancer families” 3 in the early 20th century, is a prime illustration of how identification of familial cancer syndromes directly impacts individual

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Samir Gupta, Dawn Provenzale, Xavier Llor, Amy L. Halverson, William Grady, Daniel C. Chung, Sigurdis Haraldsdottir, Arnold J. Markowitz, Thomas P. Slavin Jr, Heather Hampel, CGC, Reid M. Ness, Jennifer M. Weiss, Dennis J. Ahnen, Lee-may Chen, Gregory Cooper, Dayna S. Early, Francis M. Giardiello, Michael J. Hall, Stanley R. Hamilton, Priyanka Kanth, Jason B. Klapman, Audrey J. Lazenby, Patrick M. Lynch, Robert J. Mayer, June Mikkelson, CGC, Shajan Peter, Scott E. Regenbogen, Mary A. Dwyer, CGC and Ndiya Ogba

% of all CRCs. 2 – 5 Hereditary CRC syndromes are associated with early onset of CRC and some with risk for extracolonic cancers. 6 , 7 Genetic susceptibility to CRC includes well-defined inherited syndromes, such as Lynch syndrome, familial

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Michael J. Hall

R oughly 3% of newly diagnosed colorectal cancer (CRC) occurs as the result of an inherited mutation in a mismatch repair (MMR) gene as part of hereditary non-polyposis colorectal cancer or Lynch syndrome. Individuals with a mutation in an MMR

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Dawn Provenzale, Samir Gupta, Dennis J. Ahnen, Travis Bray, Jamie A. Cannon, Gregory Cooper, Donald S. David, Dayna S. Early, Deborah Erwin, James M. Ford, Francis M. Giardiello, William Grady, Amy L. Halverson, Stanley R. Hamilton, Heather Hampel, Mohammad K. Ismail, Jason B. Klapman, David W. Larson, Audrey J. Lazenby, Patrick M. Lynch, Robert J. Mayer, Reid M. Ness, Scott E. Regenbogen, Niloy Jewel Samadder, Moshe Shike, Gideon Steinbach, David Weinberg, Mary Dwyer and Susan Darlow

-defined inherited syndromes such as Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer), familial adenomatous polyposis (FAP), and MutY human homolog (MUTYH)-associated polyposis (MAP). Other entities include Cowden, Bannayan

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Stephen B. Gruber and Wendy Kohlmann

Spitz JL . Genodermatoses: A Full Color Clinical Guide to Genetic Skin Disorders. Baltimore : Williams & Wilkins ; 1996 . 13 Lynch HT Smyrk T . Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review . Cancer