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

ObjectiveTo 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. MethodsThe clinicopathological data of 531 breast cancer patients with germline BRCA1/2 p...

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Main Authors: Xingyu LIAO, Huimin LIU, Jie SUN, Li HU, Juan ZHANG, Lu YAO, Ye XU, Yuntao XIE
Format: Article
Language:zho
Published: Magazine House of Cancer Research on Prevention and Treatment 2025-06-01
Series:Zhongliu Fangzhi Yanjiu
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Online Access:http://www.zlfzyj.com/cn/article/doi/10.3971/j.issn.1000-8578.2025.25.0101
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author Xingyu LIAO
Huimin LIU
Jie SUN
Li HU
Juan ZHANG
Lu YAO
Ye XU
Yuntao XIE
author_facet Xingyu LIAO
Huimin LIU
Jie SUN
Li HU
Juan ZHANG
Lu YAO
Ye XU
Yuntao XIE
author_sort Xingyu LIAO
collection DOAJ
description ObjectiveTo 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. MethodsThe clinicopathological data of 531 breast cancer patients with germline BRCA1/2 pathogenic variants (201 with BRCA1 variants and 330 with BRCA2 variants) were analyzed. ResultsAmong 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%). ConclusionHER2-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.
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publisher Magazine House of Cancer Research on Prevention and Treatment
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spelling doaj-art-2444dfc4fc284b21b0df41d1be31ec552025-08-20T03:32:24ZzhoMagazine House of Cancer Research on Prevention and TreatmentZhongliu Fangzhi Yanjiu1000-85782025-06-0152649149510.3971/j.issn.1000-8578.2025.25.010120250101Clinicopathological Characteristics of HER2-Positive Breast Cancer Patients with BRCA1/2 Pathogenic Variants and Their Response to Neoadjuvant Targeted TherapyXingyu LIAO0Huimin LIU1Jie SUN2Li HU3Juan ZHANG4Lu YAO5Ye XU6Yuntao XIE7Familial & Hereditary Cancer Center, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, ChinaFamilial & Hereditary Cancer Center, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, ChinaFamilial & Hereditary Cancer Center, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, ChinaFamilial & Hereditary Cancer Center, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, ChinaFamilial & Hereditary Cancer Center, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, ChinaFamilial & Hereditary Cancer Center, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, ChinaFamilial & Hereditary Cancer Center, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, ChinaFamilial & Hereditary Cancer Center, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, ChinaObjectiveTo 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. MethodsThe clinicopathological data of 531 breast cancer patients with germline BRCA1/2 pathogenic variants (201 with BRCA1 variants and 330 with BRCA2 variants) were analyzed. ResultsAmong 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%). ConclusionHER2-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.http://www.zlfzyj.com/cn/article/doi/10.3971/j.issn.1000-8578.2025.25.0101brca1/2 pathogenic varianther2-positive breast cancerclinicopathological characteristicneoadjuvant therapy
spellingShingle Xingyu LIAO
Huimin LIU
Jie SUN
Li HU
Juan ZHANG
Lu YAO
Ye XU
Yuntao XIE
Clinicopathological Characteristics of HER2-Positive Breast Cancer Patients with BRCA1/2 Pathogenic Variants and Their Response to Neoadjuvant Targeted Therapy
Zhongliu Fangzhi Yanjiu
brca1/2 pathogenic variant
her2-positive breast cancer
clinicopathological characteristic
neoadjuvant therapy
title Clinicopathological Characteristics of HER2-Positive Breast Cancer Patients with BRCA1/2 Pathogenic Variants and Their Response to Neoadjuvant Targeted Therapy
title_full Clinicopathological Characteristics of HER2-Positive Breast Cancer Patients with BRCA1/2 Pathogenic Variants and Their Response to Neoadjuvant Targeted Therapy
title_fullStr Clinicopathological Characteristics of HER2-Positive Breast Cancer Patients with BRCA1/2 Pathogenic Variants and Their Response to Neoadjuvant Targeted Therapy
title_full_unstemmed Clinicopathological Characteristics of HER2-Positive Breast Cancer Patients with BRCA1/2 Pathogenic Variants and Their Response to Neoadjuvant Targeted Therapy
title_short Clinicopathological Characteristics of HER2-Positive Breast Cancer Patients with BRCA1/2 Pathogenic Variants and Their Response to Neoadjuvant Targeted Therapy
title_sort clinicopathological characteristics of her2 positive breast cancer patients with brca1 2 pathogenic variants and their response to neoadjuvant targeted therapy
topic brca1/2 pathogenic variant
her2-positive breast cancer
clinicopathological characteristic
neoadjuvant therapy
url http://www.zlfzyj.com/cn/article/doi/10.3971/j.issn.1000-8578.2025.25.0101
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