Clinicopathological Characteristics of Ovarian and Breast Cancer in PALB2, RAD51C, and RAD51D Germline Pathogenic Variant Carriers
Abstract
:1. Introduction
2. Materials and Methods
2.1. Setting
2.2. Study Population
2.3. Study Design
2.4. Data Collection
2.5. Variable Definition and Statistical Analysis
3. Results
3.1. Patient Characteristics
3.2. Breast Cancer
3.3. Ovarian Cancer
4. Discussion
Strengths and Limitations
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
Abbreviations
GPV | germline pathogenic variant |
BC | breast cancer |
OC | ovarian cancer |
NCR | national cancer registry |
RRSO | risk-reducing salpingo-oophorectomy |
UMCG | University Medical Center Groningen |
PV | pathogenic variant |
METc | Medical Ethics Review Board |
HR | hormone receptor |
NST | no special type |
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Characteristics | Total N = 164 |
---|---|
Age at the time of genetic testing in years (median (IQR)) | 54.0 (40–65) |
Type of mutation | |
PALB2 | 125 (76.2%) |
RAD51C | 30 (18.3%) |
RAD51D | 9 (5.5%) |
Women with a diagnosis of primary cancer ** | 76 (%) |
Breast | 53 (69.7%) |
Ovarian | 5 (6.6%) |
Breast and ovarian | 1 (1.3%) |
Other | 17 (22.4%) |
Second diagnosis/Recurrence | 12 |
Breast | 11 |
Ovarian | 1 |
Sequence of genetic testing and cancer diagnosis | 76 (%) |
Cancer diagnosed before genetic testing | 65 (85.5%) |
Cancer diagnosed after genetic testing | 9 (11.8%) |
Unknown *** | 2 (2.6%) |
PALB2 | RAD51C | RAD51D | NCR Data | |
---|---|---|---|---|
Breast cancer (n) | 50 | 3 * | 1 | |
Age at the time of diagnosis (median (IQR)) | 52 (42–61.5) | 71 (n.a.) ** | 43 (n.a.) ** | 62 (51–72) |
Histological subtype | ||||
Invasive carcinoma NST | 45 (90.0%) | 1 (33.3%) | 0 | 79.7% |
Invasive lobular carcinoma | 4 (8.0%) | 1 (33.3%) | 1 (100%) | 13.0% |
Other subtypes | 1 (2.0%) | 1 (33.3%) | 0 | 7.3% |
Tumor grade | ||||
1 | 5 (12.8%) | 2 (100%) | 0 | - |
2 | 21 (53.8%) | 0 | 0 | - |
3 | 13 (33.3%) | 0 | 1 (100%) | - |
Not reported | 11 (22.0%) | 1 (33.3%) | 0 | - |
Tumor diameter at the time of diagnosis (median (IQR)) | 15.0 mm (11.0–18.0) | 20.5 mm (n.a.) ** | Unknown | - |
Hormone receptor status | ||||
HR + | 32 (72.7%) | 3 (100%) | 0 | 81.7% |
HER2 + | 3 (7.7%) | 0 | 0 | 13.0% |
Triple negative | 9 (18.0%) | 0 | 1 (100%) | 11.1% |
Unknown | 4 (8.0%) | 0 | 0 | |
Ovarian cancer (n) | 0 | 4 * | 2 | |
Age at the time of diagnosis (median (IQR)) | - | 66 (61–69.5) | 56 (n.a.) ** | 67 (59–76) |
Histological subtype | ||||
High-grade serous | - | 3 (75.0%) | 2 (100%) | 51.5% |
Low-grade serous | - | - | - | 4.9% |
Endometroid | - | - | - | 5.9% |
Clear cell | - | - | - | 5.2% |
Mucinous | - | - | - | 5.7% |
Carcinosarcoma | - | - | - | 2.0% |
Other | - | 1 (25.0%) | - | 24.7% |
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Spijkervet, J.-R.J.A.H.; Lanjouw, L.; Berger, L.P.V.; Dorrius, M.D.; van der Vegt, B.; de Bock, G.H. Clinicopathological Characteristics of Ovarian and Breast Cancer in PALB2, RAD51C, and RAD51D Germline Pathogenic Variant Carriers. Genes 2025, 16, 556. https://doi.org/10.3390/genes16050556
Spijkervet J-RJAH, Lanjouw L, Berger LPV, Dorrius MD, van der Vegt B, de Bock GH. Clinicopathological Characteristics of Ovarian and Breast Cancer in PALB2, RAD51C, and RAD51D Germline Pathogenic Variant Carriers. Genes. 2025; 16(5):556. https://doi.org/10.3390/genes16050556
Chicago/Turabian StyleSpijkervet, Jella-Rike J. A. H., L. Lanjouw, L. P. V. Berger, M. D. Dorrius, B. van der Vegt, and G. H. de Bock. 2025. "Clinicopathological Characteristics of Ovarian and Breast Cancer in PALB2, RAD51C, and RAD51D Germline Pathogenic Variant Carriers" Genes 16, no. 5: 556. https://doi.org/10.3390/genes16050556
APA StyleSpijkervet, J.-R. J. A. H., Lanjouw, L., Berger, L. P. V., Dorrius, M. D., van der Vegt, B., & de Bock, G. H. (2025). Clinicopathological Characteristics of Ovarian and Breast Cancer in PALB2, RAD51C, and RAD51D Germline Pathogenic Variant Carriers. Genes, 16(5), 556. https://doi.org/10.3390/genes16050556