Muir-Torre Syndrome and founder Mismatch Repair genes mutations: A long gone historical genetic challenge.

Muir-Torre Syndrome and founder Mismatch Repair genes mutations: A long gone historical genetic challenge. Gene. 2015 Jul 1; Authors: Ponti G, Manfredini M, Tomasi A, Pellacani G Abstract A "cancer predisposing syndrome" later labeled as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) or Lynch syndrome, was firstly described by Warthin, about one century ago. An increased predisposition to the development of multiple familial tumors is described as characteristic of this syndrome where visceral and cutaneous malignancies may appear at an early age namely endometrial, gastric, small bowel, ureteral and renal pelvis, ovarian, hepatobiliary tract, pancreatic, brain (Turcot Syndrome) and sebaceous glands (Muir-Torre Syndrome). The latter, a variant of Lynch Syndrome, is characterized by the presence of sebaceous skin adenomas, carcinomas and/or keratoachantomas associated to visceral malignancies. Both Lynch Syndrome and Muir-Torre Syndrome have been recognized as due to germline mutations in mismatch repair genes MLH1, MSH2 and MSH6. To date, 56 Lynch Syndrome founder mutations dependent on MLH1, MSH2 and, although less frequently found, MSH6 and PMS2 are described. Some of these founder mutations, principally of MSH2 gene, have been described to cause Muir-Torre phenotype and have been traced in large and outbreed Muir-Torre Syndrome families living in different US and European territories. Due to the evidences of highly specific Muir-Torre ph...
Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research

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Conclusion: Our study demonstrated that the aberrant expression of CDCA gene family members plays an indispensable role in tumorigenesis. PMID: 31955607 [PubMed - as supplied by publisher]
Source: Future Medicine: Biomarkers in Medicine - Category: Internal Medicine Tags: Biomark Med Source Type: research
Publication date: Available online 20 January 2020Source: Carbohydrate PolymersAuthor(s): Nadezhda E. Ustyuzhanina, Maria I. Bilan, Andrey S. Dmitrenok, Alexander S. Shashkov, Nora M.A. Ponce, Carlos A. Stortz, Nikolay E. Nifantiev, Anatolii I. UsovAbstractFucosylated chondroitin sulfate (FCS) HeSp was isolated from the Patagonian sea cucumber Hemioedema spectabilis. Ion-exchange chromatography was applied for purification of the FCS from the crude extract of sulfated polysaccharides. Analysis of monosaccharide and sulfate content of HeSp revealed the molar ratio of GlcA:GalNAc:Fuc:SO3Na as 1.15:1:1.1:3.9. Molecular weight...
Source: Carbohydrate Polymers - Category: Biomedical Science Source Type: research
Cancer immune evasion is achieved through multiple layers of immune tolerance mechanisms including immune editing, recruitment of tolerogenic immune cells, and secretion of immunosuppressive cytokines. Recent success with immune checkpoint inhibitors in cancer immunotherapy suggests a dysfunctional immune synapse as a pivotal tolerogenic mechanism. Tumor cells express immune synapse proteins to suppress the immune system, which is often modulated by epigenetic mechanisms. When the methylation status of key immune synapse genes was interrogated, we observed disproportionately hypermethylated costimulatory genes and hypometh...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
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Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
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Source: Sensors and Actuators B: Chemical - Category: Chemistry Source Type: research
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Source: Colloids and Surfaces A: Physicochemical and Engineering Aspects - Category: Chemistry Source Type: research
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Source: Journal of Vascular Surgery - Category: Surgery Authors: Source Type: research
In the November 2019 issue of the Journal of Vascular Surgery, the article by Dua et  al (Dua A, Rothenberg KA, Wohlaer M, Rossi PJ, Lewis BD, Brown KR, Seabrook GR, Lee CJ; Unplanned 30-day readmissions after endovascular aneurysm repair: An analysis using the Nationwide Readmissions Database. J Vasc Surg 2019;70:1603-11) should list Dr Dua's affiliation as Division of Vascular S urgery, Department of Surgery, Massachusetts General Hospital, Boston, Mass.
Source: Journal of Vascular Surgery - Category: Surgery Tags: Correction Source Type: research
Our study has demonstrated through analysis of the National Surgical Quality Improvement Program that inferior mesenteric artery (IMA) replantation does not sufficiently decrease the rates of ischemic colitis after an open abdominal aortic aneurysm (AAA) repair that is comparable to the cohort of patients who undergo IMA ligation.1 Lazaris and colleagues have expressed in their letter to the Editor that comparison of these two cohorts (open AAA repair with IMA replantation vs open AAA repair with IMA ligation) is not valid because of inherent underlying differences.
Source: Journal of Vascular Surgery - Category: Surgery Authors: Tags: Letter to the Editor Source Type: research
Lee et  al1 report that inferior mesenteric artery (IMA) replantation does not decrease the risk of ischemic colitis after open infrarenal abdominal aortic aneurysm (AAA) repair. On the contrary, when there are intraoperative findings supporting IMA replantation, despite this additional procedure, the ris k of colonic ischemia is higher than after AAA repair without IMA replantation.
Source: Journal of Vascular Surgery - Category: Surgery Authors: Tags: Letter to the Editor Source Type: research
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