Polygenic Risk Score (PRS) Combined with NGS Panel Testing Increases Accuracy in Hereditary Breast Cancer Risk Estimation
Abstract
:1. Introduction
2. Materials and Methods
2.1. Patient Information
2.2. PRS Calculation
2.3. Statistical Analysis
3. Results
3.1. PRS Results
3.1.1. Percentile of PRS in BC Patients
3.1.2. The Contribution of FH and Gene Status in Accurate Risk Estimation
4. Discussion
4.1. PRS-Based BC Risk Estimations
4.2. Clinical Applicability of PRS-Guided BC Risk Assessment
4.3. Limitations of the Study
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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All | With FH of BC | Without FH of BC | |
---|---|---|---|
Age at Diagnosis | |||
Number of Women < 45 yo | 67 | 20 | 47 |
Number of Women > 45 yo | 38 | 20 | 18 |
Average age | 47 | 47.6 | 42.7 |
Genetic testing | |||
Number of Negative cases | 47 | 22 | 25 |
Number of Pathogenic in high risk gene | 20 | 11 | 9 |
Number of Pathogenic in moderate risk gene | 20 | 3 | 17 |
Number of Pathogenic in low/unspesified risk gene | 18 | 4 | 14 |
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Tsoulos, N.; Papadopoulou, E.; Agiannitopoulos, K.; Grigoriadis, D.; Tsaousis, G.N.; Bouzarelou, D.; Gogas, H.; Troupis, T.; Venizelos, V.; Fountzilas, E.; et al. Polygenic Risk Score (PRS) Combined with NGS Panel Testing Increases Accuracy in Hereditary Breast Cancer Risk Estimation. Diagnostics 2024, 14, 1826. https://doi.org/10.3390/diagnostics14161826
Tsoulos N, Papadopoulou E, Agiannitopoulos K, Grigoriadis D, Tsaousis GN, Bouzarelou D, Gogas H, Troupis T, Venizelos V, Fountzilas E, et al. Polygenic Risk Score (PRS) Combined with NGS Panel Testing Increases Accuracy in Hereditary Breast Cancer Risk Estimation. Diagnostics. 2024; 14(16):1826. https://doi.org/10.3390/diagnostics14161826
Chicago/Turabian StyleTsoulos, Nikolaos, Eirini Papadopoulou, Konstantinos Agiannitopoulos, Dimitrios Grigoriadis, Georgios N. Tsaousis, Dimitra Bouzarelou, Helen Gogas, Theodore Troupis, Vassileios Venizelos, Elena Fountzilas, and et al. 2024. "Polygenic Risk Score (PRS) Combined with NGS Panel Testing Increases Accuracy in Hereditary Breast Cancer Risk Estimation" Diagnostics 14, no. 16: 1826. https://doi.org/10.3390/diagnostics14161826