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Total 20 results found since Jan 2013.

Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population
We present here our experience and spectrum of pathogenic variants observed in this patient cohort and review on published studies describing molecular profile of Indian patients with CRC syndromes.
Source: Indian Journal of Gastroenterology - November 16, 2020 Category: Gastroenterology Source Type: research

Analysis of metachronous colorectal neoplasms and survival following segmental or extended resection in patients with hereditary non-polyposis colorectal cancer
ConclusionThe incidence of metachronous cancer was not significantly different between the ER and SR groups; however, that of cumulative metachronous adenoma was higher in the SR group. Hence, intensive surveillance colonoscopy may be sufficient for patients with HNPCC after non-extensive colon resection.
Source: International Journal of Colorectal Disease - June 26, 2020 Category: Gastroenterology Source Type: research

Narrative review comparing the epidemiology, characteristics, and survival in sporadic colorectal carcinoma/Lynch syndrome
ConclusionFurther studies should be conducted to provide new insights about survival of colorectal carcinoma in Lynch syndrome, as well as the therapeutic alternatives for this neoplasia.ResumoIntroduçãoO carcinoma colorretal é a terceira neoplasia mais prevalente no mundo, bem como a segunda causa de morte por câncer. A maioria destas neoplasias são esporádicas, devidas a mutações somáticas, mas cerca de 15% são hereditárias como a síndrome de Lynch ou Hereditary Nonpolyposis Colorectal Cancer (HNPCC). Apesar de ser a mesma neoplasia, esta apresenta características clinico-patológicas e moleculares distintas...
Source: Journal of Coloproctology - September 14, 2019 Category: Gastroenterology Source Type: research

Mo1717 HOW TO CREATE AN ELECTRONIC DATABASE FOR HNPCC (LYNCH SYNDROME) FROM EXISTING SOFTWARE PROGRAMS: MD ANDERSON CANCER CENTER HNPCC SURVEILLANCE OUTCOMES, A STEP TOWARDS ESTABLISHING QUALITY METRICS FOR HIGH RISK CANCER PATIENTS
A European multicenter group was the first to calculate cumulative cancer incidence rates in patients with HNPCC stratified by mutation and patient demographics. As a step toward U.S. collaboration, we retrospectively evaluated existing clinical software programs to create our HNPCC database. This database was prospectively queried to calculate surveillance outcomes to help establish quality metrics in this field.
Source: Gastrointestinal Endoscopy - May 30, 2018 Category: Gastroenterology Authors: Selvi Thirumurthi, Mala Pande, Phillip Lum, Sarah A. Bannon, Maureen Mork, Miguel A. Rodriguez-Bigas, Y. Nancy You, Eduardo Vilar Sanchez, Patrick M. Lynch Tags: Monday abstract Source Type: research

Su1215 Video Capsule Endoscopy in Patients With Muir-Torre Syndrome
Muir-Torre Syndrome (MTS) is a rare, primarily autosomal dominant disorder that is distinguished by having sebaceous skin malignancies in addition to visceral malignancies. The most common form of MTS is a variant of HNPCC. The cause of MTS appears to be germline mutations in the DNA mismatch repair genes, specifically MLH1, MSH2, and MSH6. Our aim in this study is to demonstrate the utilization of VCE in patients with MTS as a screening procedure.
Source: Gastrointestinal Endoscopy - April 28, 2017 Category: Gastroenterology Authors: Erik A. Holzwanger, Yasir AL-Azzawi, David R. Cave Tags: Sunday – ASGE poster Source Type: research

The Interactions Between Gut Microbiota and Lynch  Syndrome
To investigate the interactions between gut microbiota and Lynch syndrome (or hereditary nonpolyposis colorectal cancer, HNPCC).
Source: Clinical Gastroenterology and Hepatology - December 14, 2016 Category: Gastroenterology Authors: Xiao-juan Lu, Qian Kang, Peng Jin, Jian-qiu Sheng Source Type: research

Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer.
Abstract Hereditary non-polyposis colorectal cancer (HNPCC) was previously synonymous with Lynch syndrome; however, identification of the role of germline mutations in the DNA mismatch repair (MMR) genes has made it possible to differentiate Lynch syndrome from other conditions associated with familial colorectal cancer (CRC). Broadly, HNPCC may be dichotomized into conditions that demonstrate defective DNA MMR and microsatellite instability (MSI) vs those conditions that demonstrate intact DNA MMR. Conditions characterized by MMR deficient CRCs include Lynch syndrome (germline MMR mutation), Lynch-like syndrome (...
Source: World Journal of Gastroenterology : WJG - August 21, 2015 Category: Gastroenterology Authors: Carethers JM, Stoffel EM Tags: World J Gastroenterol Source Type: research

Intraductal papillary mucinous neoplasm of the ileal heterotopic pancreas in a patient with hereditary non-polyposis colorectal cancer: A case report.
We report a case of intraductal papillary mucinous neoplasm (IPMN) originating from the ileal heterotopic pancreas in a patient with hereditary non-polyposis colorectal cancer (HNPCC). A 49-year-old woman had a past history of total colectomy and total hysterectomy with bilateral salpingo-oophorectomy due to colonic adenocarcinoma and endometrial adenocarcinoma 11 years ago. Her parents died from colonic adenocarcinoma and her sister died from colonic adenocarcinoma and endometrial adenocarcinoma. The clinician found an ileal mass with necrotic change and the mass increased in size from 1.7 cm to 2.2 cm during the past 2 y...
Source: World Journal of Gastroenterology : WJG - July 7, 2015 Category: Gastroenterology Authors: Lee SH, Kim WY, Hwang DY, Han HS Tags: World J Gastroenterol Source Type: research

Segmental vs extended colectomy in the management of hereditary nonpolyposis colorectal cancer: a systematic review and meta‐analysis
ConclusionThe optimal surgical approach in the management of HNPCC remains unclear. More adenomas and cancers occur after SC than after TC but there certainly is no evidence to suggest that more radical surgery leads to improved survival.
Source: Colorectal Disease - April 21, 2015 Category: Gastroenterology Authors: H. M. Heneghan, S. T. Martin, D. C. Winter Tags: Systematic Review Source Type: research

HNPCC-Associated Pheochromocytoma: Expanding the Tumor Spectrum
No abstract available
Source: Pancreas - April 17, 2015 Category: Gastroenterology Tags: Letters to the Editor Source Type: research

Ideal colonoscopic surveillance intervals to reduce incidence of advanced adenoma and colorectal cancer
ConclusionsMost family history categories did not confer excess risk above personal history of advanced neoplasia. A prior cancer poses less of a risk than a prior advanced adenoma. Based on our models, a person with an advanced adenoma should be scheduled for colonoscopy at 3 years, corresponding to a 15% risk of advanced neoplasia for a male <56. Guidelines should be updated that uses a 15% risk as a benchmark for calculating surveillance intervals.
Source: Journal of Gastroenterology and Hepatology - January 22, 2015 Category: Gastroenterology Authors: Norm M Good, Finlay A Macrae, Graeme P Young, John O'Dywer, Masha Slattery, William Venables, Trevor J Lockett, Marilla O'Dwyer Tags: Experimental Gastroenterology Source Type: research

Segmental versus extended colectomy in the management of HNPCC; a systematic review and meta‐analysis
ConclusionsThe optimal surgical approach in the management of HNPCC remains unclear. More adenomas and cancers occur after segmental colectomy than after total colectomy but there certainly isn't evidence to suggest that more radical surgery leads to improved survival.This article is protected by copyright. All rights reserved.
Source: Colorectal Disease - December 16, 2014 Category: Gastroenterology Authors: Helen M Heneghan, Sean T Martin, Desmond C Winter Tags: Systematic Review Source Type: research

Colonoscopy screening compliance and outcomes in patients with Lynch Syndrome
ConclusionOverall 68% of colonoscopies were on time. The incidence of colorectal cancer was greatly reduced by screening but remained significant. Lynch syndrome patients need pro‐active surveillance management.This article is protected by copyright. All rights reserved.
Source: Colorectal Disease - September 1, 2014 Category: Gastroenterology Authors: K Newton, K Green, F Lalloo, DG Evans, J Hill Tags: Original Article Source Type: research

Covering the Cover
Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is the most common form of inherited colon cancer susceptibility. In most cases, it is characterized by mutations in the DNA mismatched repair genes, MSH2, MLH1, PMS1, MSH6, or MLH3. The Amsterdam criteria is a clinical guideline used to identify HNPCC in kindreds, and includes ≥3 relatives (one of whom is a first-degree relative and for whom familial adenomatous polyposis has been ruled out), HNPCC involving ≥2 generations, and ≥1 cancer that was diagnosed before the age of 50.
Source: Gastroenterology - August 21, 2014 Category: Gastroenterology Authors: Anson W. Lowe, Richard H. Moseley Tags: Covering the Cover Source Type: research

Defining HNPCC and Lynch syndrome: what's in a name?
Dear Sir, In June 2013, the Mallorca Group published revised guidelines for the clinical management of Lynch syndrome.1 In the title, HNPCC (Hereditary NonPolyposis Colorectal Cancer) is equated with Lynch syndrome, continuing a misuse of terms that has fuelled confusion for many years. The two terms describe different, although overlapping, diseases: the distinction is critical to an accurate understanding of hereditary colorectal cancer. HNPCC is defined clinically, usually as families satisfying Amsterdam I or II criteria.2 Lynch syndrome is defined genetically, by the presence of a germline mutation in DNA mismatch rep...
Source: Gut - August 3, 2014 Category: Gastroenterology Authors: Kravochuck, S. E., Kalady, M. F., Burke, C. A., Heald, B., Church, J. M. Tags: PostScript Source Type: research