Bibliographic Details
| Title: |
HER2-positive breast cancer in patients with BRCA1/2 pathogenic variants: Case series and literature review |
| Authors: |
Pujita Munnangi, Polly Ann Niravath, Jenny C Chang, Kai Sun |
| Source: |
Current Problems in Cancer: Case Reports, Vol 17, Iss , Pp 100335- (2025) |
| Publisher Information: |
Elsevier, 2025. |
| Publication Year: |
2025 |
| Collection: |
LCC:Neoplasms. Tumors. Oncology. Including cancer and carcinogens |
| Subject Terms: |
HER2-positive, BRCA1, BRCA2, Breast cancer, Case series, Case report, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282 |
| More Details: |
Research purpose: HER2-positive breast cancers are uncommonly reported in patients with BRCA1/2 pathogenic variants. The purpose of this case series is to describe three patients with BRCA1/2 pathogenic variants who developed HER2-positive breast cancers and their treatment courses along with that of a patient from a previously published case report, and describe existing literature exploring associations between HER2-positive breast cancers and germline variants. Key findings: HER2-positive breast cancer is uncommon in patients with BRCA1/2 pathogenic variants. The patients in our case series had hormone receptor positive and HER2-positive breast cancers. HER2 FISH was commonly utilized for the confirmation of HER2 status in our case series. All patients responded well to HER-2 directed therapies. Conclusions & clinical implications: While the interactions between BRCA1/2 pathogenic variants and the HER2 pathway are unclear, our case series and existing literature suggest that HER2-positive breast cancer occurrence is mainly HER2 oncogenic pathway driven. But the interplay between the DNA repair pathway and the HER2 oncogenic pathway could impact HER2 gene expression and play a potentially important role in treatment resistance and therapy options. Combining olaparib and trastuzumab could be considered for off-label use in patients with BRCA 1/2 mutations with HER2-positive breast cancer who failed HER2-targeted therapy. Limitations: This study is limited by small sample size (n = 4). Since it is a retrospective study, it is also limited by selection bias, lack of control group for comparison purposes, and potential influence of confounding variables. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2666-6219 |
| Relation: |
http://www.sciencedirect.com/science/article/pii/S2666621924000577; https://doaj.org/toc/2666-6219 |
| DOI: |
10.1016/j.cpccr.2024.100335 |
| Access URL: |
https://doaj.org/article/038b25107d4a4b69ad804e50f992214a |
| Accession Number: |
edsdoj.038b25107d4a4b69ad804e50f992214a |
| Database: |
Directory of Open Access Journals |
