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A Prospective Six Sigma Quality Improvement Trial to Optimize Universal Screening for Genetic Syndrome Among Patients With Young-Onset Colorectal Cancer

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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Risk Assessment, Genetic Testing, and Management of Lynch Syndrome

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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NCCN Increases the Emphasis on Genetic/Familial High-Risk Assessment in Colorectal Cancer

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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Rechallenge With Switching Immune Checkpoint Inhibitors Following Autoimmune Myocarditis in a Patient With Lynch Syndrome

Cody Eslinger, Daniel Walden, Timothy Barry, Shimoli Shah, Niloy Jewel Samadder, and Tanios S. Bekaii-Saab

Germline mutations of mismatch repair (MMR) genes such as MLH1 , MSH2 , MSH6 , and PMS2 are hallmarks of Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC). 1 Due to alteration of mechanisms involved in gene

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NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2.2019

Featured Updates to the NCCN Guidelines

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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Point: Justification for Lynch Syndrome Screening Among All Patients With Newly Diagnosed Colorectal Cancer

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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Interpretation of Genetic Testing for Lynch Syndrome in Patients With Putative Familial Colorectal Cancer

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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Molecular Tumor Testing for Lynch Syndrome in Patients With Colorectal Cancer

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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Counterpoint: Implementing Population Genetic Screening for Lynch Syndrome Among Newly Diagnosed Colorectal Cancer Patients—Will the Ends Justify the Means?

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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Hormone Receptor–Positive Breast Cancer Sensitive to Pembrolizumab: Evidence of the Pathogenicity of the MLH1 Variant 1835del3

Henry G. Kaplan, Jeffrey R. Whiteaker, Brianna Nelson, Richard G. Ivey, Travis D. Lorentzen, Uliana Voytovich, Lei Zhao, David J. Corwin, Robert Resta, and Amanda G. Paulovich

effectiveness of immunotherapy in patients with high tumor mutational burden (TMB) and/or high microsatellite instability (MSI-H), regardless of the tissue of origin. 3 – 10 Although cancers in patients with Lynch syndrome have been shown to represent a