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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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AbstractLynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility loci identified in Genome Wide Association Studies (GWAS). Previous studies focused mostly onMLH1, MSH2 andMSH6 carriers, with conflicting results. We aimed to determine the role of GWAS SNPs inPMS2 mutation carriers. A cohort study was performed in 507PMS2 carriers (124 CRC cases), genotyped for 24 GWAS SNPs, including SNPs at 11q23.1 and 8q23.3. Hazard ratios (HRs) were calculated using a weighted Cox regression analysis to correct for ascertainment bias. ...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
CRC is one of the major public health problems worldwide representing the third most common cancer in men and the second in women with more than 600,000 deaths every year [1,2]. The emergence of new cases of CRC may be related to various risk factors, including: diet, lifestyle, smoking, hereditary syndromes (familial adenomatous polyposis, Lynch syndrome, and MYH-associated polyposis, etc.), obesity, high alcohol intake, family history, inflammatory bowel disease and age> 50 (Supplemental Figure S1) [3].
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research
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Source: Neuropathology and Applied Neurobiology - Category: Neurology Authors: Tags: Scientific Correspondence Source Type: research
AbstractMicrosatellite instability (MSI) is a hallmark tool for Lynch syndrome (LS) screening and a prognostic marker for sporadic colorectal cancer (CRC). In regions with limited resources and scarce CRC molecular characterization as South America, the implementation of universal MSI screening is under debate for both its purposes. We sought to estimate the frequency of BAT26 in colorectal adenocarcinomas and to determine associated clinical and histological features. Consecutive patients from a CRC registry were included. BAT26 determination was performed in all cases; if instability was found, immunohistochemistry (IHC)...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
AbstractPatients synchronously or metachronously presenting with ovarian and colon cancer can pose diagnostic challenges. A primary colon carcinoma can metastasize to one or both ovaries, two independent primary tumors can arise or an ovarian carcinoma can metastasize to the colon. Clinical and immunohistochemical characterization can aid the diagnosis. Recently, we reported that in difficult cases finding pathogenicAPC variants supports a colonic origin.In this case report we describe the clinical history of a female patient suspected for Lynch syndrome. She was diagnosed with a bilateral ovarian cancer at age 44, followe...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
Conclusion Risk of subsequent CRC and survival estimates following PC and TC + STC should be considered in surgical management of right-sided first CRC in LS mutation carriers. Summary sentence Lynch syndrome mutation carriers are still at 27% risk for metachronous colorectal cancer after proximal colectomy for right-sided first colorectal cancers, but this study found no difference in survival through 25 years follow-up compared with those treated with total and subtotal colectomy.
Source: The American Journal of Surgery - Category: Surgery Source Type: research
At least 15% of colorectal cancers diagnosed in the United States are deficient in mismatch repair mechanisms. Most of these are sporadic, but approximately 3% of colorectal cancers result from germline alterations in mismatch repair genes and represent Lynch syndrome. It is critical to identify patients with Lynch syndrome to institute appropriate screening and surveillance for patients and their families. Exclusion of Lynch syndrome in sporadic cases is equally important because it reduces anxiety for patients and prevents excessive spending on unnecessary surveillance.
Source: Surgical Pathology Clinics - Category: Pathology Authors: Source Type: research
We read with interest the above article by Goldberg et  al that described patients from 4 Ashkenazi Jewish families with a 40-kb duplication upstream of GREM1.1 The authors presented the clinical manifestation of these patients classified as hereditary mixed polyposis syndrome (HMPS) (Table 1) and surmised that GREM1 should be included in gene panel testing for patients of any ancestry with inherited polyposis and hereditary colorectal cancer, including familial adenomatous polyposis (FAP) or the Lynch syndrome.
Source: Gastroenterology - Category: Gastroenterology Authors: Tags: Correspondence Source Type: research
Conclusion: A proinflammatory potential of the diet does not seem to be significantly associated with CRT risk in persons with LS.
Source: American Journal of Clinical Nutrition - Category: Nutrition Authors: Tags: Research Need: Role of Nutrition in Medical Management Cancer Source Type: research
by Jenny von Salom é, Philip S. Boonstra, Masoud Karimi, Gustav Silander, Marie Stenmark-Askmalm, Samuel Gebre-Medhin, Christos Aravidis, Mef Nilbert, Annika Lindblom, Kristina Lagerstedt-Robinson Among hereditary colorectal cancer predisposing syndromes, Lynch syndrome (LS) caused by mutations in DNA mismatch repair genesMLH1,MSH2,MSH6 orPMS2 is the most common. Patients with LS have an increased risk of early onset colon and endometrial cancer, but also other tumors that generally have an earlier onset compared to the general population. However, age at first primary cancer varies within families and genetic anti...
Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
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