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Screening for Lynch syndrome in young Saudi colorectal cancer patients using microsatellite instability testing and next generation sequencing

التفاصيل البيبلوغرافية
العنوان: Screening for Lynch syndrome in young Saudi colorectal cancer patients using microsatellite instability testing and next generation sequencing
المؤلفون: Khalid Alsaleh, Yousef Housawi, Miral Mashhour, Afnan Almousa, Masood Alqahtani, Waleed Abozeed, Abdulmalik Alsheikh, Caitlin Edwards, Natasha Buzzacott, Shareefa Al Hawwaj, Karen Carpenter, Barry Iacopetta
المصدر: Familial cancer. 17(2)
سنة النشر: 2017
مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, Cancer Research, Bioinformatics, DNA Mismatch Repair, Cohort Studies, 0302 clinical medicine, PMS2, Genetics (clinical), Early Detection of Cancer, Sanger sequencing, education.field_of_study, Incidence, High-Throughput Nucleotide Sequencing, Middle Aged, Lynch syndrome, MutS Homolog 2 Protein, 030220 oncology & carcinogenesis, symbols, Female, Microsatellite Instability, MutL Protein Homolog 1, Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Population, Saudi Arabia, MLH1, 03 medical and health sciences, symbols.namesake, Internal medicine, Genetics, medicine, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Genetic Testing, education, neoplasms, business.industry, Microsatellite instability, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, MSH6, 030104 developmental biology, MSH2, business
الوصف: Individuals with Lynch syndrome (LS) have germline variants in DNA mismatch repair (MMR) genes that confer a greatly increased risk of colorectal cancer (CRC), often at a young age. Identification of these individuals has been shown to increase their survival through improved surveillance. We previously identified 33 high risk cases for LS in the Saudi population by screening for microsatellite instability (MSI) in the tumor DNA of 284 young CRC patients. The aim of the present study was to identify MMR gene variants in this cohort of patients. Peripheral blood DNA was obtained from 13 individuals who were at high risk of LS due to positive MSI status and young age (
تدمد: 1573-7292
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6624cc385870075d53fe09b2a03cb7baTest
https://pubmed.ncbi.nlm.nih.gov/28643016Test
حقوق: CLOSED
رقم الانضمام: edsair.doi.dedup.....6624cc385870075d53fe09b2a03cb7ba
قاعدة البيانات: OpenAIRE
الوصف
تدمد:15737292