Lynch Syndrome From a Surgeon PerspectiveLynch Syndrome From a Surgeon Perspective

Preoperative identification of colorectal cancer patients with Lynch Syndrome may have a great clinical relevance in patient care strategies. BMC Surgery
Source: Medscape Today Headlines - Category: Consumer Health News Tags: General Surgery Journal Article Source Type: news

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Introduction: Gastric cancer (GC) risk in Lynch Syndrome (LS) is up to 13% instead of less than 1% in general population. LS is an autosomal dominant disorder caused by germ-line mutations in one of the mismatch repair (MMR) genes (MSH2, MLH1, MSH6, PMS2) or EpCAM gene determining mainly risk of colorectal and endometrial cancer and a lower risk of small bowel, urothelial and gastric cancer. GCs in this setting are usually intestinal type and show microsatellite instability (MSI-H) and loss of MMR protein expression. There are not clear guidelines for surveillance because the histopathologic transformation pathway is unkno...
Source: Annals of Oncology - Category: Cancer & Oncology Source Type: research
Introduction: Molecular evaluation of KRAS, NRAS and BRAF mutation has become an important part in colorectal carcinoma evaluation as their alterations determine the therapeutic response to anti-EGFR therapy and prognosis. MMR deficiency is important for identification of Lynch syndrome families and it has now become an important biomarker of response to immunotherapy in metastatic CRC. The aim of this study is to investigate the distribution of these mutations by tumor localization and to determine the prevalence of MMR deficiency in metastatic colorectal cancer.
Source: Annals of Oncology - Category: Cancer & Oncology Source Type: research
Introduction: Lynch syndrome (LS) is the most common cause of inherited colorectal cancer (CRC) and accounts for approximately 3 percent of newly diagnosed cases of CRC. Lynch syndrome is an autosomal dominant disorder that is caused by a germline mutation in one of several DNA mismatch repair genes (MLH1, MSH2, MSH6 and PMS2) or loss of expression of MSH2 due to deletion in the EPCAM gene (previously called TACSTD1). It is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, stomach, ovary, small bowel, hepatobiliary tract, urinary tract, brain, and skin. CRCs in Lynch syndrome di...
Source: Annals of Oncology - Category: Cancer & Oncology Source Type: research
AbstractUntil recently, no prediction models for Lynch syndrome (LS) had been validated forPMS2 mutation carriers. We aimed to evaluate MMRpredict and PREMM5 in a clinical cohort and forPMS2 mutation carriers specifically. In a retrospective, clinic-based cohort we calculated predictions for LS according to MMRpredict and PREMM5. The area under the operator receiving characteristic curve (AUC) was compared between MMRpredict and PREMM5 for LS patients in general and for different LS genes specifically. Of 734 index patients, 83 (11%) were diagnosed with LS; 23MLH1, 17MSH2, 31MSH6 and 12PMS2 mutation carriers. Both predicti...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
AbstractLynch syndrome (LS) is an autosomal dominant disorder, with high penetrance that affects approximately 3% of the cases of colorectal cancer. Affected individuals inherit germline mutations in genes responsible for DNA mismatch repair, mainly atMSH2, MLH1, MSH6 andPMS2. The molecular screening of these individuals is frequently costly and time consuming due to the large size of these genes. In addition,PMS2 mutation detection is often a challenge because there are 16 different pseudogenes identified until now. In the present work we evaluate a molecular screening strategy based in next generation sequencing (NGS) in...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
CONCLUSIONS: A CTCF bound region within the MLH1-35 enhancer regulates MLH1 expression in colorectal cells and is worthy of scrutiny in future genetic screening strategies for suspected Lynch syndrome associated with loss of MLH1 expression. PMID: 29898989 [PubMed - as supplied by publisher]
Source: Clinical Cancer Research - Category: Cancer & Oncology Authors: Tags: Clin Cancer Res Source Type: research
CHICAGO (Reuters) - Lynch syndrome, a rare hereditary disease typically associated with an increased risk of colorectal and endometrial cancers, appears to be linked with several additional types of cancer than previously thought, U.S. researchers said on Saturday.
Source: Reuters: Health - Category: Consumer Health News Tags: healthNews Source Type: news
Authors: Chen E, Xu X, Liu T Abstract Approximately one-third of individuals diagnosed with colorectal cancer have a family history of cancer, suggesting that CRCs may result from a heritable component. Despite the availability of current gene-identification techniques, only 5% of all CRCs emerge from well-identifiable inherited causes for predisposition, including polyposis and nonpolyposis syndromes. Hereditary nonpolyposis colorectal cancer represents a large proportion of cases, and robustly affected patients are at increased risk for early onset, synchronous, and metachronous colorectal malignancies and extrac...
Source: Journal of Oncology - Category: Cancer & Oncology Tags: J Oncol Source Type: research
AbstractHereditary mixed polyposis syndrome (HMPS) is a hereditary syndrome that is characterized by multiple colon polyps of mixed pathologic subtypes and an increased risk for colorectal cancer. A 40  kb duplication in the 5′ regulatory region of theGREM1 gene was recently found to be the causal mutation in a subset of Ashkenazi Jewish families with HMPS. Given this discovery, theGREM1 5 ′ regulatory region is now analyzed on many different multi-gene cancer panels, however the data on duplications distinct from the 40 kb duplication remains minimal. Herein we report a novel 24 kb tandem duplic...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
Abstract The molecular pathogenesis and classification of colorectal carcinoma are based on the traditional adenomaecarcinoma sequence, serrated polyp pathway, and microsatellite instability (MSI). The genetic basis for hereditary nonpolyposis colorectal cancer is the detection of mutations in the MLH1, MSH2, MSH6, PMS2, and EPCAM genes. Genetic testing for Lynch syndrome includes MSI testing, methylator phenotype testing, BRAF mutation testing, and molecular testing for germline mutations in MMR genes. Molecular makers with predictive and prognostic implications include quantitative multigene reverse transcriptas...
Source: Clinical Colorectal Cancer - Category: Cancer & Oncology Authors: Tags: Clin Lab Med Source Type: research
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