Clinicopathological Characteristics of HER2-Positive Breast Cancer Patients with BRCA1/2 Pathogenic Variants and Their Response to Neoadjuvant Targeted Therapy
10.3971/j.issn.1000-8578.2025.25.0101
- VernacularTitle: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
- Author:
Xingyu LIAO
1
;
Huimin LIU
1
;
Jie SUN
1
;
Li HU
1
;
Juan ZHANG
1
;
Lu YAO
1
;
Ye XU
1
;
Yuntao XIE
1
Author Information
1. Familial & Hereditary Cancer Center, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, China.
- Publication Type:CLINICALRESEARCH
- Keywords:
BRCA1/2 pathogenic variant;
HER2-positive breast cancer;
Clinicopathological characteristic;
Neoadjuvant therapy
- From:
Cancer Research on Prevention and Treatment
2025;52(6):491-495
- CountryChina
- Language:Chinese
-
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.
