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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ConclusionDiagnosis of LS was mainly depended on the following: the cancer histories of his relatives, multi ‐primary cancers of lung and stomach in his own body, MLH1 and MSH2 gene mutations detected in the cancer tissues. The clinical significance of this new MLH1 c.1896+5G>A germline mutation detected in the LS ‐associated double primary cancer patient needed further study.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
Genetics in Medicine, Published online: 17 June 2019; doi:10.1038/s41436-019-0577-zAn alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
Source: Genetics in Medicine - Category: Genetics & Stem Cells Authors: Source Type: research
In this study, whole genome comparative genomic hybridization array (array CGH) based genomic analysis was performed on twelve Saudi Lynch syndrome patients. A total of 124 chromosomal alterations (structural loss) were identified at mean log2 ratio cut off value of ±0.25. We also found structural loss in 2p21-p16.3, 3p23-p14.2, 7p22.1 and 1p34.1-p33 regions. These findings were subsequently validated by real time quantitative PCR showing downregulation of MSH2, MSH6, EPCAM, MLH1, PMS2 and MUTYH genes. These findings shall help in establishing database for alterations in mismatch repair genes underlying Lynch syndro...
Source: Saudi Journal of Biological Sciences - Category: Biology Source Type: research
ConclusionsSomatic and germline analyses offered to OC patients has proved to be an efficient strategy for the identification of inherited conditions involving OC also in absence of suggestive family histories. The identification of LS and HBOC syndromes through OC patients is an effective tool for OC prevention.
Source: Cancer Genetics - Category: Cancer & Oncology Source Type: research
CONCLUSIONS: Our hereditary colorectal cancer registry serves a large geographic area, with the largest group of referrals coming from gastroenterologists. Performing this analysis with geographic information systems technology mapping allowed us to identify clustering of patients and providers throughout the region as well as gaps. This information will help to target outreach and distribution of educational materials for providers and their patients to increase registry enrollment. See Video Abstract at http://links.lww.com/DCR/A950.
Source: Diseases of the Colon and Rectum - Category: Gastroenterology Tags: Original Contribution: Colorectal Cancer Source Type: research
AbstractBackgroundIdentification of Lynch syndrome (LS) followed by annual/biannual surveillance colonoscopy markedly reduces the risk of developing new colorectal cancer (CRC) among those with LS.Aims(1) To determine the current practice of identifying LS in the USA and Canada, and current surveillance and management practices for those diagnosed with LS; (2) to determine whether variances in current practice are physician/region dependent or influenced by ease of access to specialist clinics.MethodsAn online survey request was sent to practicing gastroenterologists through the Canadian Association of Gastroenterology and...
Source: Digestive Diseases and Sciences - Category: Gastroenterology Source Type: research
Conclusion: The incremental diagnostic yield decreased substantially after age 70 to 75 years. Stopping reflex CRC screening for LS after age 80 years may be reasonable because of very low efficiency, particularly in resource-limited settings, but this merits further investigation. Studies evaluating the effect of diagnosing LS in elderly persons on their family members are needed. Primary Funding Source: Kaiser Permanente Northern California Division of Research. PMID: 31181578 [PubMed - as supplied by publisher]
Source: Annals of Internal Medicine - Category: Internal Medicine Authors: Tags: Ann Intern Med Source Type: research
A pioneer in the study of cancer and genetics, Lynch discovered the most common form of hereditary colorectal cancer, now known as Lynch syndrome.Medscape Medical News
Source: Medscape Hematology-Oncology Headlines - Category: Cancer & Oncology Tags: Hematology-Oncology News Source Type: news
Purpose of review An overview of urologic malignancies in Lynch syndrome and the current state of research. Recent findings Upper tract urothelial carcinoma (UTUC) is the third most common malignancy in Lynch syndrome. Establishment and utilization of a sensitive and practical screening method for Lynch syndrome in patients presenting with UTUC is overdue. Next-generation sequencing to evaluate for microsatellite instability (MSI) and detect mutations of mismatch repair (MMR) genes may be the future of Lynch syndrome screening. Epidemiologic data and molecular characterization suggest bladder urothelial carcinoma (BUC...
Source: Current Opinion in Urology - Category: Urology & Nephrology Tags: CANCER GENETICS IN UROLOGIC PRACTICE: Edited by Todd M. Morgan and Brian Chapin Source Type: research
Hereditary causes due to mutations and defects in certain genes account for roughly 5% to 10% of all colorectal cancers. These inherited syndromes have been associated with a 60% to 100% lifetime risk for development of colorectal cancer, depending on the genetic syndrome, and many also carry an increased risk for multiple extracolonic malignancies. In this second part of a review series on hereditary cancer syndromes, the focus will be to provide guidance on the features and management of the most commonly encountered hereditary colorectal cancers and polyposis conditions including Lynch syndrome, familial adenomatous pol...
Source: Mayo Clinic Proceedings - Category: Internal Medicine Authors: Tags: Thematic review series on precision medicine Source Type: research
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