BRCA1和BRCA2基因变异在结直肠癌中的表达特点与风险分析  

Expression characteristics and risk analysis of BRCA1 and BRCA2 gene variants in colorectal cancer

作　　者：冯哲文 田名伟 顾晓哲 张景郁 杨小宝 杨鋆 Feng Zhewen;Tian Mingwei;Gu Xiaozhe;Zhang Jingyu;Yang Xiaobao;Yang Yun(Department of General Surgery,Beijing Friendship Hospital,Capital Medical University,National Clinical Researct Center for Digestive Diseases,Beijing 100050,China)

机构地区：[1]首都医科大学附属北京友谊医院普外科,国家消化系统疾病临床医学研究中心,北京100050

出　　处：《国际外科学杂志》2023年第4期241-246,共6页International Journal of Surgery

基　　金：北京市医院管理局“青苗”计划专项经费资助(QML20230122);北京市属医院科研培育项目(PX2022002);首都医科大学附属北京友谊医院科研启动基金资助项目(YYQDKT2019-21);北京市自然科学基金海淀原始创新联合基金(L222149)。

摘　　要：目的探究结直肠癌发生、发展与BRCA1和BRCA2基因突变风险的关系。方法采用二代测序技术对2022年1月-2022年3月于首都医科大学附属北京友谊医院就诊的61例结直肠癌患者进行基因检测。收集患者发病年龄、性别、组织学分级、TNM分期等信息。根据BRCA1和BRCA2基因是否发生体系突变,将患者分为BRCA1和BRCA2基因体系突变组(n=8)和未突变组(n=53)。主要观察指标为结直肠癌的致病或可能致病性胚系突变基因与患者的临床病理资料的关系,包括发病年龄、性别、肿瘤发生部位、TNM分期、组织学分化、家族史。次要观察指标为结直肠癌患者BRCA1和BRCA2基因体系突变与患者临床病理资料的关系。正态分布的计量资料以均数±标准差(x±s)表示,组间比较采用t检验。非正态分布的计量资料以M(Q_(1),Q_(3))表示,组间比较采用Mann-Whitney U检验。计数资料组间比较采用χ^(2)检验。结果在61例结直肠癌患者中,结直肠癌发生致病或可能致病的胚系突变频率为13.1%(8/61),其中BRCA1和BRCA2基因突变频率为3.3%(2/61)。BRCA1和BRCA2基因体系突变频率为13.1%(8/61),BRCA1和BRCA2基因体系突变组患者女性(75.0%比37.7%,χ^(2)=3.947,P=0.047)和右半结肠癌(75.0%比26.4%,χ^(2)=7.889,P=0.019)数量显著高于未突变组患者。结论结直肠癌患者BRCA1和BRCA2基因胚系和体系突变频率较高。具有乳腺癌或卵巢癌家族史结直肠癌患者BRCA1和BRCA2基因突变风险较大,推荐进行BRCA基因检测。Objective To explore the relationship between the occurrence and development of colorectal cancer and the risk of BRCA1 and BRCA2 gene mutations.Methods Sixty-one patients with colorectal adenocarcinoma admitted to Beijing Friendship Hospital Affiliated to Capital Medical University from January 2022 to March 2022 were tested by second-generation sequencing.Information such as age of onset,gender,histological grade and TNM stage were collected.According to whether the BRCA1 and BRCA2 gene had systemic mutation,the patients were divided into BRCA1 and BRCA2 gene system mutation group and unmutated group.There were 8 cases in the BRCA1 and BRCA2 gene system mutant group and 53 cases in the non-mutant group.The main outcome measures were the relationship between pathogenic or likely pathogenic germline mutations in colorectal cancer and clinicopathological data of patients,including age of onset,gender,tumor location,TNM stage,histological differentiation,and family history.The secondary outcome was the relationship between BRCA1 and BRCA2 gene system mutations and clinicopathological data.Measurement data with normal distribution were expressed as mean±standard deviation(x±s),and comparison between groups was analyzed using the t-test.Measurement data with non-normal distribution were represented as M(Q_(1),Q_(3)),and comparison between groups was analyzed using the Mann-Whitney U test.Measurement data were expressed as the number of cases or percentage(%),and Chi-square test was used for comparison between groups.Results Among 61 colorectal adenocarcinoma patients,the frequency of pathogenic or potentially pathogenic germ line mutations in colorectal cancer was 13.1%(8/61),and the frequency of BRCA1 and BRCA2 mutations was 3.3%(2/61).The frequency of BRCA1 and BRCA2 mutations was 13.1%(8/61).Women with BRCA1 and BRCA2 mutations(75.0%vs 37.7%,χ^(2)=3.947,P=0.047)and right colon cancer(75.0%vs 26.4%,χ^(2)=7.889,P=0.019)were significantly higher than those without mutation.Conclusions The frequency of BRCA1 and B

关 键 词：结直肠肿瘤 基因转变 基因表达 乳腺癌1型易感基因 乳腺癌2型易感基因 

分 类 号：R735.34[医药卫生—肿瘤]