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

Publikation: Beitrag in FachzeitschriftForschungsartikelBeigetragenBegutachtung

Beitragende

  • Kerstin Rhiem - , Universität zu Köln (Autor:in)
  • Silke Zachariae - , Universität Leipzig (Autor:in)
  • Anke Waha - , Universität zu Köln (Autor:in)
  • Sabine Grill - , Technische Universität München (Autor:in)
  • Anna Hester - , Ludwig-Maximilians-Universität München (LMU) (Autor:in)
  • Michael Golatta - , Universität Heidelberg (Autor:in)
  • Marion Van MacKelenbergh - , Christian-Albrechts-Universität zu Kiel (CAU) (Autor:in)
  • Tanja Fehm - , Heinrich Heine Universität Düsseldorf (Autor:in)
  • Tanja Schlaiß - , Julius-Maximilians-Universität Würzburg (Autor:in)
  • Tim Ripperger - , Medizinische Hochschule Hannover (MHH) (Autor:in)
  • Susanne Ledig - , Westfälische Wilhelms-Universität Münster (Autor:in)
  • Cornelia Meisel - , Klinik und Poliklinik für Frauenheilkunde und Geburtshilfe (Autor:in)
  • Dorothee Speiser - , Charité – Universitätsmedizin Berlin (Autor:in)
  • Kristina Veselinovic - , Universität Ulm (Autor:in)
  • Christopher Schröder - , Eberhard Karls Universität Tübingen (Autor:in)
  • Isabell Witzel - , Universität Hamburg (Autor:in)
  • Julia Gallwas - , Georg-August-Universität Göttingen (Autor:in)
  • Bernhard H.F. Weber - , Universität Regensburg (Autor:in)
  • Christine Solbach - , Universitätsklinikum Frankfurt (Autor:in)
  • Bariyhe Aktas - , Universität Leipzig (Autor:in)
  • Eric Hahnen - , Universität zu Köln (Autor:in)
  • Christoph Engel - , Universität Leipzig (Autor:in)
  • Rita Schmutzler - , Universität zu Köln (Autor:in)

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.

Details

OriginalspracheEnglisch
Seiten (von - bis)106-112
Seitenumfang7
FachzeitschriftBreast care
Jahrgang18
Ausgabenummer2
PublikationsstatusVeröffentlicht - 1 Apr. 2023
Peer-Review-StatusJa

Schlagworte

Ziele für nachhaltige Entwicklung

ASJC Scopus Sachgebiete

Schlagwörter

  • BRCA1, BRCA2, triple negative, Breast cancer, Hereditary breast and ovarian cancer