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FOXP3在BRCA1/2突变乳腺癌中的表达及临床意义OACSTPCD

Clinical Significance of FOXP3 Expression in BRCA1/2-Mutant Breast Cancer

中文摘要英文摘要

目的 探讨BRCA1/2突变乳腺癌FOXP3表达情况及潜在意义.方法 选取北京大学肿瘤医院48例BRCA突变者(BRCA1 16例,BRCA2 32例)和78例年龄匹配的非突变者,采用免疫组织化学检测乳腺癌组织FOXP3的表达情况.为验证免疫组织化学结果,分析TCGA-BRCA中39例BRCA1、36例BRCA2和948例非携带者乳腺癌的FOXP3 RNA表达水平及其与同源重组缺陷评分的关系.结果 在BRCA1突变者中FOXP3阳性率43.8%(7/16),BRCA2突变者为59.4%(19/32),非携带者为9.0%(7/78).BRCA1/2突变患者FOXP3阳性率均显著高于非突变者(P=0.002;P<0.001).TCGA-BRCA结果显示,BRCA1/2突变乳腺癌的FOXP3 RNA水平也显著高于非携带者(P=0.02,P=0.004).FOXP3 RNA水平与同源重组缺陷评分正相关(Spearman R=0.30,P<2.2e-16).结论 BRCA1/2突变乳腺癌较非突变者FOXP3表达更高,可能对免疫治疗更敏感.

Objective To investigate the potential significance of FOXP3 expression in BRCA1/2-mutant breast cancer.Methods A total of 48 BRCA mutation carriers(16 with BRCA1 and 32 with BRCA2)and 78 age-matched non-carriers were included in this study.Immunohistochemistry was used to detect the expression of FOXP3 in breast cancer tissues.The FOXP3 RNA expression in 39 BRCA1,36 BRCA2,and 948 non-carrier breast cancer patients from TCGA-BRCA and the correlation with homologous recombin-ation deficiency scores were evaluated to validate the immunohistochemistry results.Results The FOXP3 positive rate was 43.8%(7/16)in BRCA1 mutation carriers,59.4%(19/32)in BRCA2 mutation carriers,and 9.0%(7/78)in non-carriers.The FOXP3 positive rates in patients with BRCA1/2 mutant breast cancer were significantly higher than those in non-carriers(P=0.002;P<0.001).TCGA-BRCA results showed that the FOXP3 RNA level in BRCA1/2 mutant breast cancer was significantly higher than that in non-carriers(P=0.02,P=0.004).The FOXP3 RNA level was positively correlated with the homologous recombination deficiency score(Spearman R=0.30,P<2.2e-16).Conclusion Patients with BRCA1/2 mutant breast cancers have higher FOXP3expression than non-carriers,and may be more sensitive to immunotherapy.

陈琳茜;胡丽;陈久安;姚璐;张娟;徐晔;解云涛

100142 北京,北京大学肿瘤医院家族遗传性肿瘤中心实验室

临床医学

BRCA1/2突变乳腺癌FOXP3同源重组修复缺陷

BRCA1/2 mutationBreast cancerFOXP3Homologous recombination deficiency

《肿瘤防治研究》 2024 (007)

561-566 / 6

General Projects of National Natural Science Foundation of China(No.82272932) 国家自然科学基金面上项目(82272932)

10.3971/j.issn.1000-8578.2024.24.0134

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