胚系基因BRCA1/2突变及其相关临床病理特征  

BRCA1/2 germline mutation and its related clinicopathological characteristics

作　　者：李辉斌[1] 吴坤河[1] 凌月仙[1] 张江宇[1] LI Hui-bin;WU Kun-he;LING Yue-xian

机构地区：[1]广东省妇幼保健院病理科

出　　处：《中国产前诊断杂志（电子版）》2019年第4期59-62,共4页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的探讨胚系基因BRCA1/2突变携带者突变类型、突变位点,及其与相关临床病理特征。方法回顾性分析2017年1月至2019年3月广东省妇幼保健院通过高通量测序确定携带胚系基因BRCA1/2突变的患者情况,并收集患者相关年龄、组织学分级、淋巴结状态以及ER、PR、HER-2状态等临床病理资料。结果在16例胚系基因BRCA1/2突变携带者中,检测到BRCA1突变位点9个,BRCA2突变位点8个。检测到BRCA1基因c.5335delC位点致病移码突变1个,BRCA2基因c.T5836C意义不明点突变1个,其余错义突变及点突变均为良性突变。16例BRCA1/2基因突变携带者平均年龄43.68岁,50%患者年龄<40岁。9例乳腺浸润性癌患者同时携带有BRCA1和BRCA2基因突变7例,单一携带BRCA2突变2例,其中1例BRCA2意义不明点突变者为双侧乳腺浸润癌,另1例BRCA1致病移码突变者为三阴乳腺癌。结论胚系基因BRCA1/2突变以良性突变为主,但非良性突变,可能与乳腺癌恶性程度高存在一定联系。Objective To investigate the mutation types,mutation sites and relevant clinicopathological characteristics of BRCA1/2 germline mutation.Method Retrospective analysis was performed on patients with BRCA1/2 mutation confirmed by high-throughput sequencing in Guangdong women and children hospital from January 2017 to March 2019.The related clinicopathological data were collected,including age,histological grade,lymph node status,ER,PR and HER-2 expression.Results 9 BRCA1 mutation sites and 8 BRCA2 mutation sites were detected in 16 cases of BRCA1/2 mutation carriers.We detected 1 frameshift mutation at the BRCA1 gene c.5335delC sites,and 1 undefined point mutation at the BRCA2 gene c.t5836c sites,and the other missense mutations and point mutations were benign mutations.The mean age of 16 BRCA1/2 gene mutation carriers was 43.68 years old,and 50%of the patients were younger than 40 years old.9 patients with invasive breast cancer had both BRCA1 and BRCA2 gene mutations in 7 patients,and 2 patients with BRCA2 mutation alone.One case of BRCA2 mutation with unknown significance was bilateral invasive breast cancer,and the other case of BRCA1 mutation with pathogenic frameshift was triple-negative breast cancer.Conclusions The germline BRCA1/2 mutation is mainly benign mutation,but non-benign mutation may be associated with the high degree of malignancy of breast cancer.

关 键 词：乳腺肿瘤 卵巢肿瘤 胚系基因 BRCA1/2突变 高通量测序 

分 类 号：R714.55[医药卫生—妇产科学]