The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
Leigha Senter,Mark Clendenning,Kaisa Sotamaa,Heather Hampel,Jane Green,John D. Potter,Annika Lindblom,Kristina Lagerstedt,Stephen N. Thibodeau,Noralane M. Lindor,Joanne P. Young,Ingrid Winship,James G. Dowty,Darren M. White,John L. Hopper,Laura Baglietto,Mark A. Jenkins,Albert de la Chapelle +17 more
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TLDR
PMS2 mutations contribute significantly to Lynch syndrome, but the penetrance for monoallelic mutation carriers appears to be lower than that for the other mismatch repair genes.About:
This article is published in Gastroenterology.The article was published on 2008-08-01 and is currently open access. It has received 495 citations till now. The article focuses on the topics: Lynch syndrome & Monoallelic Mutation.read more
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ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
Sapna Syngal,Randall E. Brand,James M. Church,Francis M. Giardiello,Heather Hampel,Randall W. Burt +5 more
TL;DR: Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers.
Journal ArticleDOI
Hereditary and Familial Colon Cancer
TL;DR: This review examines the colon cancer syndromes, their genetics and management, and also the common familial colon cancers with current genetic advances and screening guidelines.
Journal ArticleDOI
Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications
TL;DR: Because 40–60% of female patients will manifest endometrial cancer, tailored management is essential, and subtotal colectomy may be necessary, given the marked frequency of synchronous and metachronous CRC.
Journal ArticleDOI
Milestones of Lynch syndrome: 1895-2015
TL;DR: Over a century of discoveries that revolutionized the diagnosis and clinical management of Lynch syndrome are chronicle, beginning in 1895 with Warthin's observations of familial cancer clusters.
Journal ArticleDOI
Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer
Francis M. Giardiello,John I. Allen,Jennifer E. Axilbund,C. Richard Boland,Carol A. Burke,Randall W. Burt,James M. Church,Jason A. Dominitz,David A. Johnson,Tonya Kaltenbach,Theodore R. Levin,David A. Lieberman,Douglas J. Robertson,Douglas J. Robertson,Sapna Syngal,Sapna Syngal,Douglas K. Rex +16 more
TL;DR: The Multi-Society Task Force developed guidelines to assist health care providers with the appropriate provision of genetic testing and management of patients at risk for and affected with Lynch syndrome.
References
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Book ChapterDOI
de la Chapelle, A.
Peter Beighton,Greta Beighton +1 more
TL;DR: De la Chapelle dysplasia, also known as atelosteogenesis type II, is a lethal form of neonatal dwarfism in which gross limb shortening is associated with a characteristic triangular configuration of the radius and ulna.
Journal ArticleDOI
Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability
Asad Umar,C. Richard Boland,Jonathan P. Terdiman,Sapna Syngal,Albert de la Chapelle,Josef Rüschoff,Richard Fishel,Noralane M. Lindor,Lawrence J. Burgart,Richard Hamelin,Stanley R. Hamilton,Robert A. Hiatt,Jeremy R. Jass,Annika Lindblom,Henry T. Lynch,Päivi Peltomäki,Scott D. Ramsey,Miguel A. Rodriguez-Bigas,Hans F. A. Vasen,Ernest T. Hawk,J. Carl Barrett,Andrew N. Freedman,Sudhir Srivastava +22 more
TL;DR: This commentary summarizes the Workshop presentations on HNPCC and MSI testing; presents the issues relating to the performance, specificity, and specificity of the Bethesda Guidelines; outlines the revised Bethesda Guidelines for identifying individuals at risk for H NPCC; and recommend criteria for MSI testing.
Journal ArticleDOI
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.
TL;DR: The establishment of a set of selection criteria for families with hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) to provide a basis for uniformity in collaborative studies and a definition of HNPCC was proposed that was aimed at helping clinicians to identify families.
Journal ArticleDOI
NCCN clinical practice guidelines in oncology: hepatobiliary cancers.
Al B. Benson,Thomas A. Abrams,Edgar Ben-Josef,P. Mark Bloomston,Jean F. Botha,Bryan M. Clary,Anne M. Covey,Steven A. Curley,Michael I. D'Angelica,Rene Davila,William D. Ensminger,John F. Gibbs,Daniel Laheru,Mokenge P. Malafa,Jorge Marrero,Steven G. Meranze,Sean J. Mulvihill,James O. Park,James A. Posey,Jasgit Sachdev,Riad Salem,Elin R. Sigurdson,Constantinos T. Sofocleous,Jean-Nicolas Vauthey,Alan P. Venook,Laura W. Goff,Yun Yen,Andrew X. Zhu +27 more
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