Dataset Information

Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

ABSTRACT: The present study comprised sarcomeric genotyping of the three most commonly involved sarcomeric genes: MYBPC3, MYH7, and TNNT2 in 192 unrelated Egyptian hypertrophic cardiomyopathy (HCM) index patients. Mutations were detected in 40 % of cases. Presence of positive family history was significantly (p=0.002) associated with a higher genetic positive yield (49/78, 62.8 %). The majority of the detected mutations in the three sarcomeric genes were novel (40/62, 65 %) and mostly private (47/62, 77 %). Single nucleotide substitution was the most frequently detected mutation type (51/62, 82 %). Over three quarters of these substitutions (21/27, 78 %) involved CpG dinucleotide sites and resulted from C>T or G>A transition in the three analyzed genes, highlighting the significance of CpG high mutability within the sarcomeric genes examined. This study could aid in global comparative studies in different ethnic populations and constitutes an important step in the evolution of the integrated clinical, translational, and basic science HCM program.

SUBMITTER: Kassem HSh

PROVIDER: S-EPMC3546296 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature

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Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

Kassem Heba Sh HSh Azer Remon S RS Saber-Ayad Maha M Moharem-Elgamal Sarah S Magdy Gehan G Elguindy Ahmed A Cecchi Franco F Olivotto Iacopo I Yacoub Magdi H MH

Journal of cardiovascular translational research 20121212 1

The present study comprised sarcomeric genotyping of the three most commonly involved sarcomeric genes: MYBPC3, MYH7, and TNNT2 in 192 unrelated Egyptian hypertrophic cardiomyopathy (HCM) index patients. Mutations were detected in 40 % of cases. Presence of positive family history was significantly (p=0.002) associated with a higher genetic positive yield (49/78, 62.8 %). The majority of the detected mutations in the three sarcomeric genes were novel (40/62, 65 %) and mostly private (47/62, 77 % ...[more]

PMID: 23233322

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Project description:BackgroundLung cancer screening conducted in high-risk group using low-dose computer tomography (LDCT) has been reported as an effective method to reduce lung cancer mortality in two large randomized-control trials. However, the effectiveness is uncertain when lung cancer screening is expanded to a nationwide population-based program.MethodsThe Korean Lung Cancer Screening Project (K-LUCAS) is a single-arm cohort study that was conducted from February 2017 to evaluate the feasibility of implementing an organized national lung cancer screening program in Korea. High-risk population aged 55-74 years with more than a 30-pack-year smoking history was recruited. Smoking history was obtained from administering questionnaires at national health screening programs or public smoking cessation programs which are already established programs in Korea. The screening results were reported using the Lung Imaging Reporting and Data System (Lung-RADS), suggested by the American College of Radiology. K-LUCAS was performed by a network-based diagnosis supporting system using a computer-aided detection (CAD) program to maintain screening quality. Current smokers were provided with mandatory smoking counseling.ResultsAmong 71,829 participants aged 50 years or older in the national health screening program, 5,975 (8.3%) were eligible for lung cancer screening. Among them, 1,062 (17.8%) refused to participate in K-LUCAS. Additionally, 779 participants were recruited in the smoking cessation program. Thus, a total of 5,692 eligible high-risk participants were recruited in this study. Among them, 865 (15.2%) had positive screening results, which requires a further examination; 529 (9.3%) had Lung-RADS category 3 (indeterminate), and 336 (5.9%) had category 4 (suspicious of lung cancer); 42 (0.7%) had confirmed lung cancer. Approximately 66.7% had early-stage lung cancer: 24 (57.1%), stage I and 4 (9.5%), stage II. Six (1.1%) patients developed complications at the time of diagnosis, including one death. The anxiety level related to cancer screening was low. Participation in screening encouraged motivation to quit smoking.ConclusionsK-LUCAS provided promising evidence supporting the implementation of a national lung cancer screening program to detect early stage lung cancer and promote smoking cessation for participants in Asian population.

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Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

Publications

Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

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