Evaluating the role of public health in implementation of genomics-related recommendations: a case study of hereditary cancers using the CDC Science Impact Framework

Study used the CDC Science Impact Framework to trace the impact of public health activities and partnerships on the implementation of the 2009 Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Lynch Syndrome screening recommendation and the 2005 and 2013 USPSTF BRCA1 and BRCA2 testing recommendations.
Source: PHPartners.org - Category: International Medicine & Public Health Source Type: news

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Lynch syndrome (LS), which is known as a hereditary cancer syndrome, is distinguished by microsatellite instability, represented by the altered number of repetitive sequences in the coding and/or non-coding re...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research
Condition:   Lynch Syndrome Intervention:   Other: questionnaire assesment Sponsor:   University Hospital, Lille Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Tumor testing utility in Lynch syndrome (LS) diagnosis is established.
Source: Digestive and Liver Disease - Category: Gastroenterology Authors: Tags: Oncology Source Type: research
Authors: Gordhandas S, Kahn RM, Gamble C, Talukdar N, Maddy B, Nelson BB, Askin G, Christos PJ, Holcomb K, Caputo TA, Chapman-Davis E, Frey MK Abstract The inclusion of DNA mismatch repair (MMR) evaluation as a standard of care for endometrial cancer management will result in a growing population of patients with MMR deficiency and negative germline Lynch syndrome testing (MMR-deficient). In this systematic review and study, the clinicopathologic features of endometrial cancer in patients with MMR-intact, MLH1 methylation positive, MMR-deficient or Lynch syndrome are evaluated. A systematic search of online databas...
Source: Ecancermedicalscience - Category: Cancer & Oncology Tags: Ecancermedicalscience Source Type: research
Contributor : Eduardo VilarSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiens ; Mus musculusLynch syndrome (LS) patients are at markedly increased risk for colorectal cancer. It is being increasingly recognized that the immune system plays an essential role in LS tumor development. Therefore, immune interception strategies are emerging as a novel way to prevent cancer in LS. This phase Ib, placebo-controlled, randomized clinical trial and a co-clinical trial using a LS mouse model and patient-derived organoids aims to evaluate the safety and tolerability as well as to discover novel mol...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Mus musculus Source Type: research
Conclusions: Our study shows that circulating hypermethylated SEPT9 is a specific colorectal cancer biomarker. This hypermethylated SEPT9 DNA disappears around three months after surgery and that circulating hypermethylated SEPT9 may be the first noninvasive marker for postsurgical diagnosis; this conclusion must be confirmed with a more significant number of patients. PMID: 32566042 [PubMed - in process]
Source: Disease Markers - Category: Laboratory Medicine Tags: Dis Markers Source Type: research
This study demonstrates that the IHC approach for both MMR deficiency and V600E BRAF mutation detections is the most efficient approach for Lynch syndrome screening in the Italian population.
Source: European Journal of Cancer Prevention - Category: Cancer & Oncology Tags: Research paper: Colorectal cancer Source Type: research
ConclusionBRCA andBRCA ‐like variants in CRC patients with LS showed moderate penetrance.BRCA/BRCA ‐like variant carriers had a higher risk for extra ‐colorectal cancers. Surveillance of susceptible organs other than the intestine should be performed for probands and affected family members.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
MONDAY, June 15, 2020 -- For patients with Lynch syndrome, aspirin is associated with a reduced risk for colorectal cancer during long-term follow-up, according to a study published in the June 13 issue of The Lancet. John Burn, M.D., from...
Source: Drugs.com - Pharma News - Category: Pharmaceuticals Source Type: news
CONCLUSIONS: FSP neoantigen vaccination is systemically well tolerated and consistently induces humoral and cellular immune responses, thus representing a promising novel approach for treatment and even prevention of MMR-deficient cancer. PMID: 32540851 [PubMed - as supplied by publisher]
Source: Clinical Cancer Research - Category: Cancer & Oncology Authors: Tags: Clin Cancer Res Source Type: research
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