Prevalence of Pathogenic Germline Variants in Women with Non-Familial Unilateral Triple-Negative Breast Cancer.

Rhiem, Kerstin; Zachariae, Silke; Waha, Anke; Grill, Sabine; Hester, Anna; Golatta, Michael; van Mackelenbergh, Marion; Fehm, Tanja; Schlaiss, Tanja; Ripperger, Tim; Ledig, Susanne; Meisel, Cornelia; Speiser, Dorothee; Veselinovic, Kristina; Schroeder, Christopher; Witzel, Isabell; Gallwas, Julia; Weber, Bernhard H. F.; Solbach, Christine; Aktas, Bariyhe; Hahnen, Eric; Engel, Christoph; Schmutzler, Rita

doi:10.1159/000528972

Klinik und Poliklinik für Frauenheilkunde (Prof. Kiechle)

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Title:: Prevalence of Pathogenic Germline Variants in Women with Non-Familial Unilateral Triple-Negative Breast Cancer.
Document type:: Article; Journal Article
Author(s):: Rhiem, Kerstin; Zachariae, Silke; Waha, Anke; Grill, Sabine; Hester, Anna; Golatta, Michael; van Mackelenbergh, Marion; Fehm, Tanja; Schlaiss, Tanja; Ripperger, Tim; Ledig, Susanne; Meisel, Cornelia; Speiser, Dorothee; Veselinovic, Kristina; Schroeder, Christopher; Witzel, Isabell; Gallwas, Julia; Weber, Bernhard H. F.; Solbach, Christine; Aktas, Bariyhe; Hahnen, Eric; Engel, Christoph; Schmutzler, Rita
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 cancer predisposition genes in an extended sTNBC study sample including a cohort of women with a later age at sTNBC diagnosis. PATIENTS AND METHODS: In 1,600 women with sTNBC (median age at diagnosis: 41 years, range 19-78 years), we investigated the association between age at diagnosis and PV occurrence 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% confidence interval: 1.21-1.65; p < 0.001). The PV prevalence predicted 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 uncertain estimate for women with sTNBC diagnosed above the age of 60 years, further studies are needed.
Journal title abbreviation:: Breast Care (Basel)
Year:: 2023
Journal volume:: 18
Journal issue:: 2
Pages contribution:: 106-112
Fulltext / DOI:: doi:10.1159/000528972
Pubmed ID:: http://view.ncbi.nlm.nih.gov/pubmed/37261134
Print-ISSN:: 1661-3791
TUM Institution:: 1072; Klinik und Poliklinik für Frauenheilkunde (Prof. Kiechle)
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mediaTUM Gesamtbestand Einrichtungen Schools TUM School of Medicine and Health Departments Clinical Medicine Klinik und Poliklinik für Frauenheilkunde (Prof. Kiechle)2023