BRCA mutations among triple negative breast cancer without family history of breast and ovarian cancer: The Modena family cancer clinic experience

Date 03 May 2019
Event ESMO Breast Cancer 2019
Session Poster lunch
Topics Breast Cancer
Hereditary Syndromes
Presenter Eleonora Molinaro
Citation Annals of Oncology (2019) 30 (suppl_3): iii1-iii26. 10.1093/annonc/mdz095
Authors E. Molinaro1, M. Venturelli2, A. Toss1, C. Piombino2, E. Barbieri1, L. Marcheselli1, I. Marchi1, E. Tagliafico1, S. Cascinu1, L. Cortesi1
  • 1Department Of Oncology And Hematology, University Hospital of Modena, 41124 - Modena/IT
  • 2Department Of Oncology And Hematology, University Hospital of Modena, 41125 - Modena/IT



Because of the high costs associated with genetic analyses, BRCA1/2-testing has traditionally been restricted to breast cancer patients having an ’a priori high risk’ of being a carrier. Particularly, according to The National Institute for Health and Care Excellence (NICE) in the UK, BRCA testing should be offered to breast cancer patients with a probability of having a mutation ≥ 10%. Regardless of family history, International Guidelines include among the BRCA testing Criteria, a personal history of triple negative breast cancer diagnosed ≤ 60 years. According to previous research, 15-30% of unselected TNBC had confirmed BRCA mutations. Whereas, among patients without breast/ovarian cancer family history mutation prevalence decrease to 6-15 %.


In the archives of the Modena Family Cancer Clinic, we identified 126 patients diagnosed with TNBC without family history of breast/ovarian cancer, which underwent BRCA-genetic testing. Mutation prevalence and clinical-pathological characteristics were evaluated.


Among 126 triple-negative breast cancer patients without a family history of breast and/or ovarian cancer, a total of 20 patients (15.8%) were BRCA mutation carriers: 18 BRCA1 (14.2%), 2 BRCA2 (1.5%), 2 BRCA2 VUS (1.5%). The mutation prevalence was 7/20 (35%) in the age group 30-39 years, 9/55 (16.3%) in 40-49, 4/48 (8.3%) in 50-59, 0/1 (0%) in 60-69 and 0/2 (0%) in 70-79. BRCA1 patients were younger at diagnosis (44 yrs) than non-carriers (48 yrs). Histotype, tumor grade, ki-67 and the presence of second primary BC were equally distributed between carriers and non-carriers.


Our results are aligned with the recent results of the German Consortium for Hereditary Breast and Ovarian Cancer, and justify BRCA mutation screening among women with TNBC diagnosed before the age of 60 years and no family history.

Editorial acknowledgement

Clinical trial identification

Legal entity responsible for the study

Laura Cortesi.


Has not received any funding.


All authors have declared no conflicts of interest.