中国BRCA1和BRCA2基因胚系突变乳腺癌的临床病理特征比较  

Comparison of clinicopathological characteristics between BRCA1 and BRCA2 mutation carriers among Chinese women with breast cancer

作　　者：陈蕾燕 孙洁[1] 万琪婷 胡丽 姚璐[1] 张娟[1] 徐晔[1] 解云涛[1] Leiyan Chen;Jie Sun;Qiting Wan;Li Hu;Lu Yao;Juan Zhang;Ye Xu;Yuntao Xie(Familial&Hereditary Cancer Center,Peking University Cancer Hospital&Institute,Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education),Beijing 100142,China)

机构地区：[1]北京大学肿瘤医院家族遗传性肿瘤中心,恶性肿瘤发病机制及转化研究教育部重点实验室,北京市100142

出　　处：《中国肿瘤临床》2022年第23期1224-1229,共6页Chinese Journal of Clinical Oncology

基　　金：国家自然科学基金项目(编号:81772824、81802635和82072898)资助。

摘　　要：目的:比较中国人群中BRCA1和BRCA2基因两种突变状态的乳腺癌患者临床病理特征的差异。方法:收集2003年10月至2015年5月北京大学肿瘤医院收治的8627例连续的、未经家族史和年龄选择的原发性乳腺癌患者资料,经过基因测序共有521例患者携带BRCA1/2基因致病性胚系突变,其中BRCA1突变患者203例,BRCA2突变患者318例。对这些突变患者的临床病理参数进行回顾性分析。结果:乳腺癌患者中BRCA2基因突变频率(3.7%)高于BRCA1(2.4%)。BRCA1突变者乳腺癌发病年龄比BRCA2突变者早(中位发病年龄:43.0岁vs.47.0岁,P<0.01)。BRCA1突变乳腺癌患者组织学分级Ⅲ级比例显著高于BRCA2突变患者(36.2%vs.18.4%,P<0.01),三阴性乳腺癌(ER-/PR-/HER2-)比例也显著高于BRCA2突变者(59.2%vs.15.4%,P<0.01)。BRCA2突变患者的腋窝淋巴结阳性比例高于BRCA1突变患者(41.8%vs.29.6%,P<0.01)。结论:中国BRCA1和BRCA2胚系突变乳腺癌的临床病理特征存在一定差异,提示BRCA1和BRCA2胚系突变对乳腺癌生物学行为的影响可能不同,为BRCA1和BRCA2胚系突变乳腺癌更加精准的临床管理提供依据。Objective:To compare the clinicopathological characteristics between BRCA1 and BRCA2 mutation carriers among Chinese women with breast cancer.Methods:BRCA1/2 genetic testing was performed on 8,627 patients with primary breast cancer at Peking University Cancer Hospital&Institute from October 2003 to May 2015.Overall,521 BRCA1/2 pathogenic germline mutations were identified in this cohort,including 203 BRCA1 mutation carriers and 318 BRCA2 mutation carriers.The clinicopathological characteristics of these 521 patients were analyzed retrospectively.Results:The prevalence of BRCA2 germline mutations(3.7%)was higher than that of BRCA1 germline mutations(2.4%)in this large,unselected cohort of Chinese patients with breast cancer.BRCA1 mutation carriers were significantly younger at time of breast cancer diagnosis than BRCA2 mutation carriers(median:43.0 years vs.47.0 years,P<0.01).BRCA1 mutation carriers were more likely to have gradeⅢcarcinomas than BRCA2 mutation carriers(36.2%vs.18.4%,P<0.01).Notably,BRCA1 mutation carriers exhibited a significantly higher proportion of triple negative breast cancer(ER-/PR-/HER2-)than BRCA2 mutation carriers(59.2%vs.15.4%,P<0.01).BRCA2 mutation carriers were more likely to have axillary lymph node involvement than BRCA1 mutation carriers(41.8%vs.29.6%,P<0.01).Conclusions:The clinicopathological characteristics between BRCA1 and BRCA2 mutation carriers among Chinese women with breast cancer were not similar,indicating an underlying different biological mechanism.The results provided the evidence for further precised clinical management of the BRCA1 and BRCA2 mutated breast cancer.

关 键 词：乳腺癌 BRCA1基因 BRCA2基因 临床病理特征 

分 类 号：R737.9[医药卫生—肿瘤]