Association between basal-like phenotype and BRCA1/2 germline mutations in Korean breast cancer patients

  • J. Jung Eulji University Hospital, Daejeon, Korea
  • E. Kang Seoul National University Bundang Hospital, Seoul National University College of Medicine
  • J.M. Gwak Seoul National University Bundang Hospital, Seoul National University College of Medicine
  • A.N. Seo Seoul National University Bundang Hospital, Seoul National University College of Medicine
  • S.Y. Park Seoul National University Bundang Hospital, Seoul National University College of Medicine
  • A.S. Lee Seoul National University Bundang Hospital, Seoul National University College of Medicine, Korea
  • H. Baek Seoul National University Bundang Hospital, Seoul National University College of Medicine, Korea
  • S. Chae Seoul National University Bundang Hospital, Seoul National University College of Medicine, Korea
  • E.K. Kim Seoul National University Bundang Hospital, Seoul National University College of Medicine, Korea
  • S.W. Kim Daerim St. Mary’s Hospital
Keywords: Basal-like phenotype, BRCA1, BRCA2, triple-negative breast cancer

Abstract

Introduction

BRCA mutation testing allows index patients and their families to be provided with appropriate cancer risk-reduction strategies. Because of the low prevalence of BRCA mutations in unselected breast cancer patients and the high cost of genetic testing, it is important to identify the subset of women who are likely to carry BRCA mutations. In the present study, we examined the association between BRCA1/2 germline mutations and the immunohistochemical features of breast cancer.

Methods

In a retrospective review of 498 breast cancer patients who had undergone BRCA testing at Seoul National University Bundang Hospital between July 2003 and September 2012, we gathered immunohistochemical information on estrogen receptor (er), progesterone receptor (pr), her2 (human epidermal growth factor receptor 2), cytokeratin 5/6, egfr (epidermal growth factor receptor), and p53 status.

Results

Among the 411 patients eligible for the study, 50 (12.2%) had germline mutations in BRCA1 or BRCA2. Of the 93 patients with triple-negative breast cancer (tnbc), 25 with BRCA1/2 mutations were identified (BRCA1, 20.4%; BRCA2, 6.5%). On univariate analysis, er, pr, cytokeratin 5/6, egfr, and tnbc were found to be related to BRCA1 mutations, but on multivariate analysis, only tnbc was significantly associated with BRCA1 mutations. Among patients with early-onset breast cancer or with a family history of breast or ovarian cancer, BRCA1 mutations were significantly more prevalent in the tnbc group than in the non-tnbc group.

Conclusions

In the present study, tnbc was the only independent predictor of BRCA1 mutation in patients at high risk of hereditary breast and ovarian cancers. Other histologic features of basal-like breast cancer did not improve the estimate of BRCA1 mutation risk.

Author Biographies

J. Jung, Eulji University Hospital, Daejeon, Korea
Department of Surgery
E. Kang, Seoul National University Bundang Hospital, Seoul National University College of Medicine
Department of Surgery
J.M. Gwak, Seoul National University Bundang Hospital, Seoul National University College of Medicine
Department of Pathology
A.N. Seo, Seoul National University Bundang Hospital, Seoul National University College of Medicine
Department of Pathology
S.Y. Park, Seoul National University Bundang Hospital, Seoul National University College of Medicine
Department of Pathology
A.S. Lee, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Korea
Department of Surgery
H. Baek, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Korea
Department of Surgery
S. Chae, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Korea
Department of Surgery
E.K. Kim, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Korea
Department of Surgery
S.W. Kim, Daerim St. Mary’s Hospital
Department of Surgery
Published
2016-10-26
How to Cite
Jung, J., Kang, E., Gwak, J., Seo, A., Park, S., Lee, A., Baek, H., Chae, S., Kim, E., & Kim, S. (2016). Association between basal-like phenotype and BRCA1/2 germline mutations in Korean breast cancer patients. Current Oncology, 23(5), 298-303. https://doi.org/10.3747/co.23.3054
Section
Cancer Genetics