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Refining the Role of PMS2 in Lynch SyndromeRefining the Role of PMS2 in Lynch Syndrome

This study analyzed the contribution of the PMS2 mismatch repair gene in Lynch syndrome by assessing the pathogenicity of variants of unknown significance. Journal of Medical Genetics
Source: Medscape Today Headlines - Category: Consumer Health News Tags: Pathology & Lab Medicine Journal Article Source Type: news

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Familial Colorectal Cancer Type X (FCCTX) is a type of hereditary non-polyposis colorectal cancer in accordance to Amsterdam criteria-1(AC1) for Lynch syndrome, with no related mutation in mismatch repair gene (MMR) gene. FCCTX is microsatellite stable and is accounted for 40 % of families with AC1 with a high age of onset. Thus, the carcinogenesis of FCCTX is different compared to lynch syndrome. In addition to the microsatellite stability and the presence of less predominant tumors in proximal colon, various clinical features have also been associated with FCCTX in comparison with lynch syndrome such as no increased risk...
Source: Current Problems in Cancer - Category: Cancer & Oncology Authors: Source Type: research
Lynch syndrome (LS) is a hereditary cancer syndrome caused by a germline mutation in a DNA mismatch repair gene, usually MLH1, MSH2, MSH6, or PMS2. The most common cancers associated with LS are colorectal adenocarcinoma and endometrial carcinoma. Identification of women with LS-associated endometrial cancer is important, as these women and their affected siblings and children are at-risk of developing these same cancers. Germline testing of all endometrial cancer patients is not cost effective, and screening using young age of cancer diagnosis and/or presence of family history of syndrome-associated is underutilized and i...
Source: Advances in Anatomic Pathology - Category: Pathology Tags: Review Articles Source Type: research
Mixed endometrioid and clear cell carcinoma of the endometrium refers to a scenario in which the tumor exhibits histologic features of both endometrioid and clear cell carcinoma. We observed a tendency for these tumors to occur in a mismatch repair (MMR) protein-deficient molecular background in a prior study that examined a small cohort of mixed-type endometrial carcinomas. The aim of this study was to determine the rate of MMR protein deficiency in a larger series of endometrial mixed endometrioid and clear cell carcinomas, through a retrospective survey of MLH1, PMS2, MSH2, and MSH6 expression in such tumors at 5 tertia...
Source: International Journal of Gynecological Pathology - Category: Pathology Tags: Pathology of the Corpus: Original Articles Source Type: research
CONCLUSION: The prevalence of Lynch syndrome found in Brazzaville is comparable to that is found in northern countries. The combined Bethesda guidelines, pedigree and IHC is an accessible and good alternative method for the positive diagnosis of Lynch syndrome in current practice in Congo. PMID: 28988047 [PubMed - as supplied by publisher]
Source: Bulletin du Cancer - Category: Cancer & Oncology Authors: Tags: Bull Cancer Source Type: research
This article presents a rare clinical of a 61-year-old female diagnosed with extracolonic Lynch syndrome with six metachronous tumours acquiring in digestive tract during the period from 1993 to 2014 (over 21 years). No other cases of six primary malignancies in patient with Lynch syndrome have been reported in literature. Upon diagnosis of Lynch syndrome, it is important to screen patient for malignancies of different localization as this syndrome predisposes appearance of various cancers at earlier age than in general population. PMID: 28938854 [PubMed - as supplied by publisher]
Source: Acta Chirurgica Belgica - Category: Surgery Tags: Acta Chir Belg Source Type: research
Conditions:   Colorectal Neoplasms, Hereditary Nonpolyposis;   Endometrial Neoplasms Interventions:   Diagnostic Test: immunohistochemical staining;   Diagnostic Test: tests of microsatellite instability;   Diagnostic Test: clinical criteria of Lynch syndromes;   Diagnostic Test: sequencing for mismatch repair genes Sponsor:   Lei Li Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Conclusion: A proinflammatory potential of the diet does not seem to be significantly associated with CRT risk in persons with LS. PMID: 28931533 [PubMed - as supplied by publisher]
Source: The American Journal of Clinical Nutrition - Category: Nutrition Authors: Tags: Am J Clin Nutr Source Type: research
AbstractInterpretation of next-generation sequencing (NGS) of tumor tissue in patients with advanced Urinary Tract Cancer (UTC) is performed to guide treatment selection but may reveal pathogenic variants with germline implications. We identified three patients with UTC with unexpected germline DNA repair gene mutations. Specific testing for these was prompted by the detection of these mutations by tumor NGS. All three patients were nonsmokers with a strong family history of cancer. Two patients had upper tract UTC with age at diagnosis in the 40  s. One had a family history suggestive of hereditary breast/ovarian pre...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
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