Breast cancer detection and tumor characteristics in BRCA1 and BRCA2 mutation carriers Journal Article


Authors: Krammer, J.; Pinker-Domenig, K.; Robson, M. E.; Gönen, M.; Bernard-Davila, B.; Morris, E. A.; Mangino, D. A.; Jochelson, M. S.
Article Title: Breast cancer detection and tumor characteristics in BRCA1 and BRCA2 mutation carriers
Abstract: Purpose: To describe imaging findings, detection rates, and tumor characteristics of breast cancers in a large series of patients with BRCA1 and BRCA2 mutations to potentially streamline screening strategies. Methods: An IRB-approved, HIPAA-compliant retrospective analysis of 496 BRCA mutation carriers diagnosed with breast carcinoma from 1999 to 2013 was performed. Institutional database and electronic medical records were reviewed for mammography and MRI imaging. Patient and tumor characteristics including age at diagnosis, tumor histology, grade, receptor, and nodal status were recorded. Results: Tumors in BRCA1 mutation carriers were associated exhibited significantly higher nuclear and histological grade compared to BRCA2 (p < 0.001). Triple-negative tumors were more frequent in BRCA1 mutation carriers, whereas hormone receptor-positive tumors were more frequent in BRCA2 mutation carriers (p < 0.001). BRCA2 mutation carriers more frequently presented with ductal carcinoma in situ (DCIS) alone 14% (35/246) and cancers more frequently exhibiting calcifications (p < 0.001). Mammography detected fewer cancers in BRCA1 mutation carriers compared to BRCA2 (p = 0.04): 81% (186/231) BRCA1 versus 89% (212/237) BRCA2. MRI detected 99% cancers in each group. Mammography detected cancer in two patients with false-negative MRI (1 invasive cancer, 1 DCIS). Detection rates on both mammography and MRI did not significantly differ for women over 40 years and women below 40 years. Conclusions: Breast cancers in BRCA1 mutation carriers are associated with more aggressive tumor characteristics compared to BRCA2 and are less well seen on mammography. Mammography rarely identified cancers not visible on MRI. Thus, the omission of mammography in BRCA1 mutation carriers screened with MRI can be considered. © 2017, Springer Science+Business Media New York.
Keywords: breast cancer; breast mri; mammogram; brca mutation
Journal Title: Breast Cancer Research and Treatment
Volume: 163
Issue: 3
ISSN: 0167-6806
Publisher: Springer  
Date Published: 2017-06-01
Start Page: 565
End Page: 571
Language: English
DOI: 10.1007/s10549-017-4198-4
PROVIDER: scopus
PUBMED: 28343309
PMCID: PMC5490380
DOI/URL:
Notes: Article -- Export Date: 1 June 2017 -- Source: Scopus
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MSK Authors
  1. Mark E Robson
    372 Robson
  2. Mithat Gonen
    721 Gonen
  3. Elizabeth A Morris
    248 Morris