Oops, you're using an old version of your browser so some of the features on this page may not be displaying properly.

MINIMAL Requirements: Google Chrome 24+Mozilla Firefox 20+Internet Explorer 11Opera 15–18Apple Safari 7SeaMonkey 2.15-2.23

Poster display session

4458 - Real-life study of BRCA genetic screening in metastatic breast cancer


11 Sep 2017


Poster display session


Targeted Therapy;  Breast Cancer


Guillaume Meynard


Annals of Oncology (2017) 28 (suppl_5): v74-v108. 10.1093/annonc/mdx365


G. Meynard1, C. Villanueva1, A. Thiery-Vuillemin1, L. Mansi1, P. Montcuquet1, N. Meneveau1, L. Chaigneau1, F. Bazan1, H. Almotlak1, E. Dobi1, T. Nguyen Tan Hon1, E. Klajer1, C. Fagnoni-Legat2, S. Paget-Bailly3, A. Meurisse3, M. Collonge-Rame4, C. Populaire-Ventron4, X. Pivot1, E. Curtit1

Author affiliations

  • 1 Medical Oncology, CHU Besançon, Hôpital Jean Minjoz, 25030 - Besançon/FR
  • 2 Pharmacology Unit, CHU Besançon, Hôpital Jean Minjoz, 25030 - Besançon/FR
  • 3 Methodological And Quality Of Life Unit In Oncology, University Hospital Jean Minjoz, 25000 - Besançon/FR
  • 4 Genetic Unit, CHU Besançon, Hôpital Jean Minjoz, 25030 - Besançon/FR


Abstract 4458


Genomic instability is a hallmark of cancers and mutations in the DNA repair BRCA1 and BRCA2 genes predispose to breast and other cancers. Prevalence of BRCA1/2 mutations is known in general population, but the frequency of these mutations in patients with metastatic breast cancer has not been established.


Prospective BRCA1 and BRCA2 genetic testing was proposed to all patients with metastatic breast cancer treated in 7 centers (in Franche-Comte, France) between February 19th 2015 and November 30th. BRCA TrueTM test (Pathway Genomics®, San Diego CA, USA) was used to analyze the coding and flanking regions of BRCA1 and BRCA2 genes associated with hereditary breast and ovarian cancer by next-generation sequencing-base and Sanger sequencing.


Of the 407 metastatic breast cancer patients, 11 (2.7%) had pathogenic germline BRCA1/2 mutations. BRCA2 (n = 8) mutations were the most frequent. Five of 11 patients (45%) would not have been candidate for BRCA1/2 mutation screening according to genetic counseling recommendations. All patients with a BRCA2 mutation presented a luminal metastatic breast cancer whereas all patients with BRCA1 mutation had a triple-negative metastatic breast cancer.


This is the first study assessing the prevalence of germline BRCA1 and BRCA2 mutations in an unselected population of patients with metastatic breast cancer. These patients with BRCA1/2 germline mutation represent the targeted population for poly(ADP-ribose) polymerase (PARP) inhibitors based therapy.

Clinical trial identification

Legal entity responsible for the study

University Hospital Jean Minjoz of Besancon, France




All authors have declared no conflicts of interest.

This site uses cookies. Some of these cookies are essential, while others help us improve your experience by providing insights into how the site is being used.

For more detailed information on the cookies we use, please check our Privacy Policy.

Customise settings
  • Necessary cookies enable core functionality. The website cannot function properly without these cookies, and you can only disable them by changing your browser preferences.