Is Genetic Testing of HER2-Negative Metastatic Breast Cancer Patients Implemented into Clinical Practice? A Retrospective Analysis
Abstract
1. Introduction
2. Patients and Methods
3. Results
3.1. Demographics
3.2. Genetic Testing Rates
3.3. Genetic Testing Rates in the Sub-Study
3.4. Predictors of Genetic Testing
3.5. Genetic Test Results
3.6. PARP Inhibitor Treatment
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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| Patient Characteristics | Total Study Population | Recommendation for Genetic Testing | p-Value | |
|---|---|---|---|---|
| Number of Patients (%, n = 229) | Yes Number of Patients (%, n = 109) | No Number of Patients (%, n = 120) | ||
| Age, mean ± SD | 64 ± 13 | 59 ± 13.4 | 67.6 ± 11.8 | 0.0007 |
| Breast cancer subtype | 0.000 | |||
| - HR+/HER2− | 76.4 | 55.0 | 95.8 | |
| - TN | 23.6 | 45.0 | 4.2 | |
| Treatment line | ||||
| - 1st treatment line | 52.8 | 50.5 | 55 | |
| - 2nd treatment line | 17.5 | 16.5 | 18.3 | 0.2292 |
| ≥3rd treatment line | 29.7 | 33.0 | 26.7 | 0.68 |
| - mean ± SD | 2.0 ± 1.5 | 1.0 ± 1.6 | 1.0 ± 1.3 | |
| Family history | 0.0001 | |||
| - positive | 21.0 | 33.0 | 10.0 | |
| - negative | 51.1 | 45.0 | 56.7 | |
| - unknown | 27.9 | 22.0 | 33.3 | |
| Genetic Test Result | Number of Patients (%, n = 95) |
|---|---|
| WT or VUS | 84.2 |
| BRCA2 1 patient with a somatic mutation (only tumor tissue was tested in this patient.) | 8.4 |
| BRCA1 | 4.2 |
| PALB2 | 1.1 |
| CHEK2 | 1.1 |
| Treatment Indication | Absolute Number of Patients |
|---|---|
| Targetable mutations | 9 |
| - gBRCA1/2mut | 8 |
| - sBRCA2mut | 1 |
| No targetable mutations | 2 |
| - Compassionate use | 1 |
| - Clinical study | 1 |
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Deutschmann, C.; Heinzl, F.; Leser, C.; Gschwantler-Kaulich, D.; Singer, C.F.; Kostic, S.; Golescu, A.; Pfeiler, G. Is Genetic Testing of HER2-Negative Metastatic Breast Cancer Patients Implemented into Clinical Practice? A Retrospective Analysis. J. Clin. Med. 2026, 15, 3433. https://doi.org/10.3390/jcm15093433
Deutschmann C, Heinzl F, Leser C, Gschwantler-Kaulich D, Singer CF, Kostic S, Golescu A, Pfeiler G. Is Genetic Testing of HER2-Negative Metastatic Breast Cancer Patients Implemented into Clinical Practice? A Retrospective Analysis. Journal of Clinical Medicine. 2026; 15(9):3433. https://doi.org/10.3390/jcm15093433
Chicago/Turabian StyleDeutschmann, Christine, Florian Heinzl, Carmen Leser, Daphne Gschwantler-Kaulich, Christian F. Singer, Suncica Kostic, Adelheid Golescu, and Georg Pfeiler. 2026. "Is Genetic Testing of HER2-Negative Metastatic Breast Cancer Patients Implemented into Clinical Practice? A Retrospective Analysis" Journal of Clinical Medicine 15, no. 9: 3433. https://doi.org/10.3390/jcm15093433
APA StyleDeutschmann, C., Heinzl, F., Leser, C., Gschwantler-Kaulich, D., Singer, C. F., Kostic, S., Golescu, A., & Pfeiler, G. (2026). Is Genetic Testing of HER2-Negative Metastatic Breast Cancer Patients Implemented into Clinical Practice? A Retrospective Analysis. Journal of Clinical Medicine, 15(9), 3433. https://doi.org/10.3390/jcm15093433

