Mutational Analysis of Notch Pathway in Familial Esophageal Squamous Cell Carcinoma using ExomeSequencing
- سال انتشار: 1394
- محل انتشار: اولین سمپوزیوم بین المللی سرطان نسترن
- کد COI اختصاصی: NASTARANCANSER01_199
- زبان مقاله: انگلیسی
- تعداد مشاهده: 541
نویسندگان
Department of Biology, Damghan Branch, Islamic Azad University, Damghan, Iran
Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
Molecular Oncology, British Colombia Cancer Research Center, Vancouver, British Colombia, Canada
Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
چکیده
Esophageal squamous cell carcinoma (ESCC) is one of the deadliest cancers in the world. Itis the eighth most common cancer, with more than 480,000 new cases and 400,000 deathseach year world wide. Nowadays, whole exom sequencing (WES) has become a preferablemethod to identify new molecular biomarkers for diseases. It is predicted that this method willbe a routine procedure for personalized medicine decisions. Here we report genetic variantsusing WES which may be a susceptibility biomarkers in ESCC.We analyzed 9 patients withdiagnosed familial ESCC to identify candidate genes. Genomic DNA was extracted fromwhole blood and underwent further procedures. WES was used to generate informationabout variants. Following complicated bioinformatics analysis to predict the most contributoryvariants to ESCC. PolyPhen, Sift, Provean and Mutation Assessor were utilized softwares topredict the variants damaging effects. These tools were exploited statistical algorithms todemonstrate protein structure and variants conservation. Polymorphic regions were excludedfrom research by false positive investigations in NIH’s Undiagnosed Diseases Program.Gene-Gene interaction analysis were performed for Notch signaling pathway candidates.Novel and nonsynonymous variants were revealed from WES results consisting of 232variants in all 9 patients. Notch signaling pathway genes were selected as a highly effectivepathway in ESCC encountering. We reached novel and damaging variants of Notchsignaling pathway through extensive pathway-oriented filtering and functional predictionswhich lead to candidate 35 variants. WES technique was used as a powerful tool to predictcandidate variant in ESCC patients and the results showed that it could be an imperativemethod for finding the molecular cause of disease.کلیدواژه ها
Esophageal Squamous Cell Carcinoma, Notch Signaling Pathway, Whole- Exome Sequencing, Biomarkers, Novelاطلاعات بیشتر در مورد COI
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