CHINAMEDICINEANDPHARMACYVol.13No.2January2023392023年1月第13卷第2期·综述·BRCA基因检测进展林司杭周文斌▲暨南大学第二临床医学院深圳市人民医院甲乳外科，广东深圳518020[摘要]研究表明，BRCA1/2基因突变是遗传性乳腺癌/卵巢癌综合征的主要致病因素，可导致乳腺癌、卵巢癌、结肠癌、胰腺癌及前列腺癌等风险显著增加。BRCA基因检测可帮助临床进行准确的治疗和判断预后、评估家属遗传风险，有助于采取预防性手术等。目前国内BRCA基因检测的有三代测序技术，每一代又有许多检测平台，有各自的优缺点。国内外的BRCA1/2基因检测应用因为患病人群特征、仪器设备、医疗水平等因素而有所差异。本文综述BRCA基因检测的研究进展及临床应用。[关键词]BRCA1；BRCA2；基因检测；二代测序[中图分类号]R730.5；R-1[文献标识码]A[文章编号]2095-0616（2023）02-0039-05AdvancesinBRCAgenetestingLINSihangZHOUWenbinDepartmentofThyroidandBreastSurgery,theSecondClinicalMedicalCollegeofJinanUniversity,ShenzhenPeople’sHospital,Guangdong,Shenzhen518020,China[Abstract]Studieshaveshownthatbreastcancersusceptibilitygene1/2(BRCA1/2)fundmutationisamajorcausativefactorinhereditarybreastcancer/ovariancancersyndrome,leadingtoasignificantlyincreasedriskofbreast,ovarian,colon,pancreatic,andprostatecancers,etc.BRCAgenetestingishelpfulforaccurateclinicaltreatment,evaluationoftheprognosis,assessmentofthegeneticriskinfamilymembers,andapplicationofpreventivesurgery,etc.Currently,therearethreegenerationsofBRCAgenesequencingtechnologiesinChina,andeachhasitsownadvantagesanddisadvantagesandisboundwithmanytestingplatforms.TheapplicationofBRCA1/2genetestinginChinaandabroadvariesdependingonthecharacteristicsofthepatients,instrumentation,andmedicallevel.ThispaperhereinreviewsthestudyadvancesandclinicalapplicationsofBRCAgenetesting.[Keywords]BRCA1;BRCA2;Genetesting;Second-generationsequencing[基金项目]广东省深圳市医学重点学科建设经费资助（No.SZXK015）。▲通讯作者BRCA1/2基因突变可以导致乳腺癌、卵巢癌等风险增加。BRCA1和BRCA2突变携带者患乳腺癌累积风险分别为72%和69%，对侧乳腺癌累积发病率分别高达83%和62%；15%～22%的卵巢癌由BRCA1/2基因突变导致，且终身危险度由1%～2%升至60%...
