نتایج جستجو برای: lynch syndrome

تعداد نتایج: 623651  

Journal: :British Journal of Surgery 2021

Abstract Introduction 12% of cancers in the UK are colorectal origin1 with 1-3% secondary to genetic mismatch repair due Lynch syndrome2, for which 2017 NICE guidance recommended that patients cancer (CRC) be tested3. It increases risk developing other such as endometrial, ovarian and small bowel1, changes oncological treatment offered CRC patients4,5, prompts investigation their relatives cond...

Journal: :Human mutation 2008
Elizabeth C Chao Jonathan L Velasquez Mavee S L Witherspoon Laura S Rozek David Peel Pauline Ng Stephen B Gruber Patrice Watson Gad Rennert Hoda Anton-Culver Henry Lynch Steven M Lipkin

Lynch syndrome, also known as hereditary nonpolyposis colon cancer (HNPCC), is the most common known genetic syndrome for colorectal cancer (CRC). MLH1/MSH2 mutations underlie approximately 90% of Lynch syndrome families. A total of 24% of these mutations are missense. Interpreting missense variation is extremely challenging. We have therefore developed multivariate analysis of protein polymorp...

2011
Francesc Balaguer Leticia Moreira Juan Jose Lozano Alexander Link Georgina Ramirez Yan Shen Miriam Cuatrecasas Mildred Arnold Stephen J. Meltzer Sapna Syngal Elena Stoffel Rodrigo Jover Xavier Llor Antoni Castells C. Richard Boland Meritxell Gironella Ajay Goel

Purpose: microRNAs (miRNA) are small noncoding transcripts that play an important role in carcinogenesis. miRNA expression profiles have been shown to discriminate between different types of cancers. The aim of this study was to analyze global miRNA signatures in various groups of colorectal cancers (CRC) based on the presence of microsatellite instability (MSI). Experimental Design:We analyzed...

2011
Kathy E Watkins Christine Y Way Jacqueline J Fiander Robert J Meadus Mary Jane Esplen Jane S Green Valerie C Ludlow Holly A Etchegary Patrick S Parfrey

BACKGROUND Lynch syndrome is a hereditary cancer with confirmed carriers at high risk for colorectal (CRC) and extracolonic cancers. The purpose of the current study was to develop a greater understanding of the factors influencing decisions about disease management post-genetic testing. METHODS The study used a grounded theory approach to data collection and analysis as part of a multiphase ...

Journal: :Cancer prevention research 2008
Elena M Stoffel D Kim Turgeon David H Stockwell Lili Zhao Daniel P Normolle Missy K Tuck Robert S Bresalier Norman E Marcon John A Baron Mack T Ruffin Dean E Brenner Sapna Syngal

BACKGROUND AND AIMS Lynch syndrome (also known as hereditary nonpolyposis colon cancer) is associated with an increased risk for colorectal cancer, which can arise despite frequent colonoscopic exams. We evaluated the adenoma miss rate of conventional colonoscopy in patients with Lynch syndrome, and compared the sensitivity of chromoendoscopy versus intensive inspection for detecting polyps mis...

2012
E Edwards M Bowman M Walsh J Kirk

Lynch syndrome is an autosomal dominant cancer predisposition syndrome which is caused by a germline mutation in one of four genes, MLH1, MSH2, MSH6 or PMS2. Individuals with a germline mutation in one of these genes are at increased lifetime risk of colon, endometrial, ovarian, small intestine, renal pelvis and ureter. Less commonly patients may develop biliary tract cancers, gastric and pancr...

Journal: :International Journal of Molecular Sciences 2021

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