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BRCA1/2突变HER2阳性乳腺癌的临床特征及其对新辅助靶向治疗的反应

廖兴宇 刘慧敏 孙洁 胡丽 张娟 姚璐 徐晔 解云涛

肿瘤防治研究2025,Vol.52Issue(6):491-495,5.
肿瘤防治研究2025,Vol.52Issue(6):491-495,5.DOI:10.3971/j.issn.1000-8578.2025.25.0101

BRCA1/2突变HER2阳性乳腺癌的临床特征及其对新辅助靶向治疗的反应

Clinicopathological Characteristics of HER2-Positive Breast Cancer Patients with BRCA1/2 Pathogenic Variants and Their Response to Neoadjuvant Targeted Therapy

廖兴宇 1刘慧敏 1孙洁 1胡丽 1张娟 1姚璐 1徐晔 1解云涛1

作者信息

  • 1. 100142 北京,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
  • 折叠

摘要

Abstract

Objective To analyze the proportion and clinicopathological characteristics of HER2-positive breast cancer patients with BRCA1/2 pathogenic variants,and their response to neoadjuvant anti-HER2 targeted therapy.Methods The clinicopathological data of 531 breast cancer patients with germline BRCA1/2 pathogenic variants(201 with BRCA1 variants and 330 with BRCA2 variants)were analyzed.Results Among the 201 BRCA1 and 330 BRCA2 variants,17(8.5%)and 42(12.7%)HER2-positive breast cancer cases were identified,respectively,accounting for 11.1%of all BRCA1/2-mutated breast cancers.Compared with BRCA1/2-mutated HR-positive/HER2-negative patients,HER2-positive patients did not present any significant differences in clinicopathological features;however,compared with triple-negative breast cancer patients,HER2-positive patients had a later onset age and lower tumor grade.Among the 17 patients who received neoadjuvant anti-HER2 targeted therapy,10 cases achieved pCR(58.8%),whereas 7 cases did not(41.2%).Conclusion HER2-positive breast cancer accounts for more than 10%of BRCA1/2-mutated patients.Approximately 40%of these patients fail to achieve pCR after neoadjuvant targeted therapy.This phenomenon highlights the possibility of combining anti-HER2 targeted agents with poly(adenosine diphosphate-ribose)polymerase inhibitors.

关键词

BRCA1/2突变/HER2阳性乳腺癌/临床特征/新辅助治疗

Key words

BRCA1/2 pathogenic variant/HER2-positive breast cancer/Clinicopathological characteristic/Neoadjuvant therapy

分类

临床医学

引用本文复制引用

廖兴宇,刘慧敏,孙洁,胡丽,张娟,姚璐,徐晔,解云涛..BRCA1/2突变HER2阳性乳腺癌的临床特征及其对新辅助靶向治疗的反应[J].肿瘤防治研究,2025,52(6):491-495,5.

基金项目

Key Supported Project of the Major Research Program of the National Natural Science Foundation of China(No.92359201) (No.92359201)

National Natural Science Foundation of China General Program(No.82272932,82473481) 国家自然科学基金重大研究计划重点支持项目(92359201) (No.82272932,82473481)

国家自然科学基金面上项目(82272932、82473481) (82272932、82473481)

肿瘤防治研究

1000-8578

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