Rhiem, Kerstin and Zachariae, Silke and Waha, Anke and Grill, Sabine and Hester, Anna and Golatta, Michael and van Mackelenbergh, Marion and Fehm, Tanja and Schlaiss, Tanja and Ripperger, Tim and Ledig, Susanne and Meisel, Cornelia and Speiser, Dorothee and Veselinovic, Kristina and Schroeder, Christopher and Witzel, Isabell and Gallwas, Julia and Weber, Bernhard H. F. and Solbach, Christine and Aktas, Bariyhe and Hahnen, Eric and Engel, Christoph and Schmutzler, Rita (2023) Prevalence of pathogenic germline variants in women with non-familial unilateral tri-ple-negative breast cancer. BREAST CARE, 18 (2). pp. 106-112. ISSN 1661-3791, 1661-3805
Full text not available from this repository. (Request a copy)Abstract
Introduction: International guidelines recommend genetic testing for women with familial breast cancer at an expected prevalence of pathogenic germline variants (PVs) of at least 10%. In a study sample of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC), we have previously shown that women with TNBC diagnosed before the age of 50 years but without a family history of breast or ovarian cancer (sTNBC) meet this criterion. The present study investigates the PV prevalence in BRCA1, BRCA2 and nine additional can-cer predisposition genes in an extended sTNBC study sample including a cohort of women with a later age at sTNBC diagnosis.Patients and methods: In 1600 women with sTNBC (median age at diagnosis 41 years, range 19-78 years) we investigated the association between age at diagnosis and PV occur-rence in cancer predisposition genes using logistic regression. Results: 260 sTNBC patients (16.2%) were found to have a PV in cancer predisposition genes (BRCA1: n=170 [10.6%]; BRCA2: n=46 [2.9%], other: n=44 [2.8%]). The PV prevalence in women diagnosed between 50 and 59 years (n=194) was 11.3% (22/194). Logistic regression showed a significant increase in PV prevalence with decreasing age at diagnosis (OR 1.41 per 10 years younger age at diagnosis; 95%CI 1.21-1.65; p <0.001). The PV prevalence pre-dicted by the model was above 10% for diagnoses before the age of 56.8 years. Conclusion: Based on the data presented, we recommend genetic testing by gene panel analysis for sTNBC patients diagnosed before the age of 60 years. Due to the still wide confi-dence interval (7.6-16-6), we recommend the implementation within the framework of a knowledge-generating care concept.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | HEREDITARY BREAST; MUTATION ANALYSIS; FAMILY-HISTORY; OVARIAN-CANCER; BRCA MUTATION; RISK GENES; SUSCEPTIBILITY; COHORT; CLASSIFICATION; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 09 Apr 2024 06:05 |
| Last Modified: | 09 Apr 2024 06:05 |
| URI: | https://pred.uni-regensburg.de/id/eprint/60667 |
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