Methylated DNA markers hold promise for Lynch syndrome

SAN DIEGO – It has been challenging to identify reliable biomarkers for Lynch syndrome colorectal neoplasms, but that may be about to change. Researchers have identified 10 discriminant methylated...
Source: Family Practice News - Category: Primary Care Source Type: news

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Conclusions: New models of genetic service delivery are currently under development worldwide to address the increasing demand for accessible and affordable services. These models require the integration of genetics into all medical specialties, collaboration among different healthcare professionals, and the redistribution of professional roles. An appropriate model for genetic service provision in a specific setting should ideally be defined according to the type of healthcare system, the genetic test provided within a genetic program, and the cost-effectiveness of the intervention. Only applications with proven efficacy ...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Lynch syndrome is characterized by DNA mismatch repair (MMR) deficiency. Some patients with suspected Lynch syndrome have DNA MMR deficiencies but no detectable mutations in genes that encode MMR proteins —this is called Lynch-like syndrome (LLS). There is no consensus on management of patients with LLS. We collected data from a large series of patients with LLS to identify clinical and pathology features.
Source: Clinical Gastroenterology and Hepatology - Category: Gastroenterology Authors: Source Type: research
ConclusionDiagnosis of LS was mainly depended on the following: the cancer histories of his relatives, multi ‐primary cancers of lung and stomach in his own body, MLH1 and MSH2 gene mutations detected in the cancer tissues. The clinical significance of this new MLH1 c.1896+5G>A germline mutation detected in the LS ‐associated double primary cancer patient needed further study.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
Genetics in Medicine, Published online: 17 June 2019; doi:10.1038/s41436-019-0577-zAn alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
Source: Genetics in Medicine - Category: Genetics & Stem Cells Authors: Source Type: research
In this study, whole genome comparative genomic hybridization array (array CGH) based genomic analysis was performed on twelve Saudi Lynch syndrome patients. A total of 124 chromosomal alterations (structural loss) were identified at mean log2 ratio cut off value of ±0.25. We also found structural loss in 2p21-p16.3, 3p23-p14.2, 7p22.1 and 1p34.1-p33 regions. These findings were subsequently validated by real time quantitative PCR showing downregulation of MSH2, MSH6, EPCAM, MLH1, PMS2 and MUTYH genes. These findings shall help in establishing database for alterations in mismatch repair genes underlying Lynch syndro...
Source: Saudi Journal of Biological Sciences - Category: Biology Source Type: research
The diagnostic yield of universal screening of colorectal tumors for Lynch syndrome decreases substantially after ages 70 to 75, a retrospective study suggests.Reuters Health Information
Source: Medscape Allergy Headlines - Category: Allergy & Immunology Tags: Hematology-Oncology News Source Type: news
ConclusionsSomatic and germline analyses offered to OC patients has proved to be an efficient strategy for the identification of inherited conditions involving OC also in absence of suggestive family histories. The identification of LS and HBOC syndromes through OC patients is an effective tool for OC prevention.
Source: Cancer Genetics - Category: Cancer & Oncology Source Type: research
CONCLUSIONS: Our hereditary colorectal cancer registry serves a large geographic area, with the largest group of referrals coming from gastroenterologists. Performing this analysis with geographic information systems technology mapping allowed us to identify clustering of patients and providers throughout the region as well as gaps. This information will help to target outreach and distribution of educational materials for providers and their patients to increase registry enrollment. See Video Abstract at
Source: Diseases of the Colon and Rectum - Category: Gastroenterology Tags: Original Contribution: Colorectal Cancer Source Type: research
Incremental diagnostic yield decreases substantially after 70 to 75 years; LS is rare after 80 years
Source: The Doctors Lounge - Oncology - Category: Cancer & Oncology Tags: Gastroenterology, Internal Medicine, Oncology, Pathology, Geriatrics, Journal, Source Type: news
AbstractBackgroundIdentification of Lynch syndrome (LS) followed by annual/biannual surveillance colonoscopy markedly reduces the risk of developing new colorectal cancer (CRC) among those with LS.Aims(1) To determine the current practice of identifying LS in the USA and Canada, and current surveillance and management practices for those diagnosed with LS; (2) to determine whether variances in current practice are physician/region dependent or influenced by ease of access to specialist clinics.MethodsAn online survey request was sent to practicing gastroenterologists through the Canadian Association of Gastroenterology and...
Source: Digestive Diseases and Sciences - Category: Gastroenterology Source Type: research
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