Endoscopic management of Lynch syndrome and of familial risk of colorectal cancer: European Society of Gastrointestinal Endoscopy (ESGE) Guideline

Endoscopy DOI: 10.1055/a-1016-4977ESGE recommends that individuals with Lynch syndrome should be followed in dedicated units that practice monitoring of compliance and endoscopic performance measures.Strong recommendation, low quality evidence, level of agreement 100 %.ESGE recommends starting colonoscopy surveillance at the age of 25 years for MLH1 and MSH2 mutation carriers and at the age of 35 years for MSH6 and PMS2 mutation carriers.Strong recommendation, moderate quality evidence, level of agreement 100 %. ESGE recommends the routine use of high-definition endoscopy systems in individuals with Lynch syndrome. Strong recommendation, high quality evidence, level of agreement 100 %. ESGE suggests the use of chromoendoscopy may be of benefit in individuals with Lynch syndrome undergoing colonoscopy; however routine use must be balanced against costs, training, and practical considerations.Weak recommendation, moderate quality evidence, level of agreement 89 %.ESGE recommends definition of familial risk of colorectal cancer as the presence of at least two first-degree relatives with colorectal cancer or at least one first-degree relative with colorectal cancer before the age of 50 years.Strong recommendation, moderate quality evidence, level of agreement 92 %.ESGE recommends colonoscopy surveillance in first-degree relatives of colorectal cancer patients in families that fulfill the definition of familial risk of colorectal cancer.Strong recommendation, moderate qu...
Source: Endoscopy - Category: Gastroenterology Authors: Tags: Guideline Source Type: research

Related Links:

ConclusionIdentification of families with Lynch syndrome, while challenging because of variable phenotypes at diagnosis, is feasible with available molecular biological technologies and crucial to reduce mortality caused by this syndrome.
Source: Journal of Gastrointestinal Cancer - Category: Cancer & Oncology Source Type: research
CONCLUSIONS: A simplified pedigree is acceptable for selecting candidates to screen for hereditary colorectal cancer, whereas an extended pedigree is still required for a more precise diagnosis of Lynch syndrome, especially in younger patients. See Video Abstract at http://links.lww.com/DCR/B97. EXTENSIÓN DE PEDIGREE REQUERIDO EN LA DETECCIÓN Y DIAGNÓSTICO DE CÁNCER COLORRECTAL HEREDITARIO SIN POLIPOSIS: COMPARACIÓN DE LOS PEDIGREES SIMPLIFICADO Y EL EXTENDIDO ANTECEDENTES: La obtención de un Pedigree exacto es el primer paso para reconocer un paciente con cáncer color...
Source: Diseases of the Colon and Rectum - Category: Gastroenterology Tags: Original Contributions: Colorectal Cancer Source Type: research
ConclusionWith the increase in daily use of next-generation sequencing (NGS) technology, it is thought that detection rate of both combined mutations and rare mutations will be increased.
Source: International Journal of Colorectal Disease - Category: Gastroenterology Source Type: research
This study assesses trends in diagnosis of LS and adherence to recommended LS-related care in a large integrated healthcare organization (~  575,000 members).MethodsElectronic medical record (EMR) data (1999 –2015) were examined to identify patients with a diagnosis of LS. We examined their LS-associated care recommendations and adherence to these recommendations. Qualitative patient and provider interviews were conducted with the aim of identifying opportunities for improved care delivery.ResultsWe identified 74 patients with a diagnosis of LS; 64% were diagnosed with a LS-related malignancy prior to their di...
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research
Authors: Lappalainen J, Holmström D, Lepistö A, Saarnio J, Mecklin JP, Seppälä T Abstract Background: Lifetime incidence of colorectal cancer (CRC) especially in carriers of MLH1 and MSH2 pathogenic germline variants in mismatch repair genes is high despite ongoing colonoscopy surveillance. Lynch syndrome (LS) registries have been criticized for not reporting colonoscopy quality adequately.Methods: Prospective follow-up data from the national registry were combined with a retrospective assessment of the colonoscopy reports from Helsinki University Hospital electronic patients records in 2004-201...
Source: Scandinavian Journal of Gastroenterology - Category: Gastroenterology Tags: Scand J Gastroenterol Source Type: research
PMID: 31825091 [PubMed - as supplied by publisher]
Source: Med J Aust - Category: General Medicine Authors: Tags: Med J Aust Source Type: research
Colorectal cancer (CRC) is the third most commonly diagnosed cancer. This review gives an overview of the current knowledge of molecular mechanisms of colorectal carcinogenesis and the role of molecular testing in the management of CRC. The majority of CRCs arise from precursor lesions such as adenoma, transforming to adenocarcinoma. Three molecular carcinogenesis pathways have been identified; (1) chromosomal instability, (2) microsatellite instability (MSI), and (3) CpG island methylator phenotype, each account for ~85%, 15%, and 17%, respectively. Evaluation of MSI status, extended RAS mutation analysis, and BRAF mutati...
Source: Advances in Anatomic Pathology - Category: Pathology Tags: Review Articles Source Type: research
Rationale: Lynch syndrome (LS) is an autosomal dominant cancer predisposition condition caused by germline heterozygous mutations in mismatch repair (MMR) genes. However, as one of the MMR genes, PMS2 mutation-induced LS-associated endometrial cancer (LSAEC) was rarely reported. Patient concerns: A 26-year-old female patient suffered from prolonged menstrual period and increased menstrual flow for 2 months. Diagnoses: The patient was diagnosed with cervix CIN III, endometrial cancer (EC), anemia, and LS. Interventions: Total hysterectomy, bilateral salpingectomy, pelvic lymphadenectomy were performed for treatin...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
AbstractLynch syndrome accounts for 3 –5% of colorectal cancers and is due to a germline mutation in one of the mismatch repair genesMLH1,MSH2,MSH6, andPMS2. Somatic hypermethylation of theMLH1 promoter is commonly associated to sporadic cases. Strategies have been developed to identify patients with Lynch Syndrome based on clinical findings, tumoral phenotype, family history and immunohistochemistry analysis. However, there still are some pitfalls in this strategy, possibly responsible for an underdiagnosis of Lynch syndrome. Here we report the case of a 37 years-old man presenting with two concomitant tumors locate...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
AbstractPurpose of reviewDecades have passed since the underlying molecular etiologies of the most common hereditary forms of colorectal cancer (CRC), Lynch syndrome, and familial adenomatous polyposis (FAP) were first described. With the advent of next-generation sequencing (NGS) panels, the landscape of hereditary CRC testing has changed dramatically. We review available screening strategies, novel CRC predisposition genes, and challenges and opportunities in this field.Recent findingsImproved sensitivity and availability of NGS panel testing have greatly expanded our understanding regarding the number of CRC syndromes a...
Source: Current Treatment Options in Gastroenterology - Category: Gastroenterology Source Type: research
More News: Cancer | Cancer & Oncology | Colonoscopy | Colorectal Cancer | Endoscopy | Gastroenterology | HNPCC | Lynch Syndrome | Training | Universities & Medical Training