Identifying Driver Genes Mutations with Clinical Significance in Thyroid Cancer

作     者：Hyeong Won Yu Muhammad Afzal Maqbool Hussain Hyungju Kwon Young Joo Park June Young Choi Kyu Eun Lee 

作者机构：Department of SurgerySeoul National University Bundang HospitalSeongnam-siKorea Department of SoftwareSejong UniversitySeoulKorea Department of SurgeryCollege of MedicineEwha Womans UniversitySeoulKorea Department of Internal MedicineSeoul National University Hospital and College of MedicineSeoulKorea Department of SurgerySeoul National University Hospital and College of MedicineSeoulKorea 

出 版 物：《Computers, Materials & Continua》 (计算机、材料和连续体（英文）)

年 卷 期：2021年第67卷第4期

页      面：1241-1251页

核心收录：

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

基　　金：supported by Grant No.02-2015-015 from the Seoul National University Bundang Hospital research fund.The funders had no role in the design of the study the collection,analyses,or interpretation of the data the writing of the manuscript or the decision to publish the results 

主　　题：Medical informatics papillary thyroid carcinoma cancer gene mutation analysis BRAF clinical significance 

摘      要：Advances in technology are enabling gene mutations in papillary thyroid carcinoma(PTC)to be analyzed and clinical outcomes,such as recurrence,to be *** date,the most common genetic mutation in PTC is in BRAF kinase(BRAF).However,whether mutations in other genes coincide with those in BRAF remains to be *** aim of this study was to find mutations in other genes that co-exist with mutated BRAF,and to analyze their frequency and clinical relevance in *** and genetic data were collected from 213 PTC patients with a total of 36,572 mutation sites in 735 *** matching with genes from PTC entries in a global database(NCBI Gene),69 genes with mutations in coding regions were chosen for further *** frequency-based analysis,we identified commonly mutated genes co-existing with mutated BRAF and,using the mutation count correlation matrix(MCCM)method,analyzed their incidence according to age and *** designed Chord diagrams to reveal gene relationships concerning age and gender,and found that mutations in ALK,ATM,COL1A1,MSTIR,PRKCA,and WNK1 most commonly coincide with mutated BRAF,followed by APC,AURKA,and *** findings provide further insight into the genetic profile of PTC.