Association of family history and location of BRCA1 and BRCA2 mutations in triple-negative breast cancer patients.

• DOI: 10.1200/jco.2017.35.15_suppl.e12588
• Publication Date: 2018-09-06T15:40:39Z
• Authors: Yen Yen Tan; Daniela Muhr; Christine Rappapo...; Daphne Gschwantle...; Christoph Grimm; Stephan Polterauer; Georg Pfeiler; Andreas Berger; Muy-Kheng Maria Tea; Christian F. Singer
• Keywords: BRCA Mutation; Pedigree chart; Triple-negative breast cancer

e12588 Background: We assessed the prevalence of family history and its association with germline BRCA1/2mutation status/location age at onset in triple-negative breast cancer (TNBC) patients. Methods: 266 patients TNBC < 60 years unselected for were enrolled DNA was sequenced to identify mutations. Family pedigrees prospectively collected from these Logistic regression used investigate mutation type/location onset. ROC curves constructed determine good predictors BRCAmutations. Results: BRCA mutations identified 18.0% all (15.0% BRCA1, 3.0% BRCA2). BRCA1 carriers have a significantly earlier than non-mutation (40 vs 49 years; p .001). While 39/124 (31.4%) carried BRCA1/2 mutation, 9/142 (6.3%) had no cancer. ≥1BC are commonly cluster regions (53.1%). BRCA2 more within ovarian regions. Of note, this difference not statistically significant. Women OCCR diagnosed younger age. ≤45 ≥1OC (AUC 0.867). Conclusions: Young women BC OC likely mutation. Specific locations may add identification subgroup relatively higher risk subsequent Identification high-risk will enable clinicians optimize management phenotype, but require further validation larger studies.