BRCA1/2突变异时性双乳癌首发癌和对侧癌的临床病理特征对比研究  

Comparison of Clinicopathological Characteristics Between Primary and Contralateral Cancers in BRCA1/2 Carriers with Metachronous Bilateral Breast Cancers

作　　者：丁欣韵 孙洁[1] 陈久安 姚璐[1] 徐晔[1] 解云涛[1] 张娟[1] DING Xinyun;SUN Jie;CHEN Jiuan;YAO Lu;XU Ye;XIE Yuntao;ZHANG Juan(Familial&Hereditary Cancer Center,Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education),Peking University Cancer Hospital&Institute,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实验室,北京100142

出　　处：《肿瘤防治研究》2023年第7期652-657,共6页Cancer Research on Prevention and Treatment

基　　金：国家自然科学基金面上项目(81773209,82272932,81974422);北京市自然科学基金面上项目(7182031)。

摘　　要：目的比较BRCA1/2突变异时性双乳癌的首发癌和对侧癌临床病理特征。方法纳入首发为单侧乳腺癌的BRCA1/2突变患者496例(BRCA1196例,BRCA2300例),收集患者的临床病理资料并进行随访,中位随访时间10.4年(0.4~20.8年)。结果196例BRCA1和300例BRCA2突变患者中分别有31例(15.8%)和49例(16.3%)发生异时性对侧乳腺癌。在31例BRCA1突变发生异时性双乳癌的患者中,首发癌和对侧癌的三阴性乳腺癌比例分别为61.3%和67.7%。BRCA1突变双侧乳腺癌的首发癌为三阴性乳腺癌时,对侧乳腺癌为三阴性乳腺癌的概率(89.5%,17/19)显著高于首发癌为非三阴性乳腺癌而对侧乳腺癌为三阴性乳腺癌的概率(33.3%,4/12)(P=0.004)。BRCA2突变异时双乳癌的首发癌和对侧癌主要的分子表型均为HR+和HER2-乳腺癌(77.6%vs.67.3%,P=0.53)。结论约60%的BRCA1突变患者为三阴性乳腺癌。如果发生对侧乳腺癌,有近89.5%概率为三阴性乳腺癌。Objective To compare the clinicopathological characteristics between primary and contralateral cancers in patients with metachronous bilateral breast cancer(MBBC)who carried a BRCA1/2 germline pathogenic variant.Methods A total of 496 BRCA1/2 carriers with primary unilateral breast cancer were included(196 with BRCA1 and 300 with BRCA2).Clinicopathological information of patients was collected,and the median follow-up for the entire cohort was 10.4 years(0.4-20.8 years).Results Among all patients,31(15.8%)of the 196 BRCA1 carriers and 49(16.3%)of the 300 BRCA2 carriers had MBBC,respectively.Among the 31 BRCA1 carriers who developed MBBC,the proportion of triple-negative breast cancer(TNBC)in primary cancer and contralateral cancer was 61.3%and 67.7%,respectively.If the primary cancer of BRCA1-mutated MBBC was TNBC,the probability of the contralateral breast cancer with TNBC was 89.5%(17/19),which was significantly higher than that if the primary cancer was non-TNBC(33.3%,4/12)(P=0.004).Among the 49 BRCA2 carriers who developed MBBC,the predominant molecular phenotype of the primary and contralateral cancers was HR+&HER2-(77.6%and 67.3%,respectively;P=0.53).Conclusion Approximately 60%of BRCA1 carriers exhibit TNBC.If a BRCA1 carrier with a TNBC primary breast cancer had an MBBC,the probability of the contralateral breast cancer being TNBC phenotype is almost 89.5%.

关 键 词：BRCA突变 异时性双乳癌 分子分型 三阴性乳腺癌 

分 类 号：R737.9[医药卫生—肿瘤]