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Article

Association between Basal-Like Phenotype and BRCA1/2 Germline Mutations in Korean Breast Cancer Patients

1
Department of Surgery, Eulji University Hospital, Daejeon, Korea
2
Department of Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea
3
Department of Pathology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea
4
Department of Surgery, Daerim St. Mary’s Hospital, Seoul, Korea
*
Author to whom correspondence should be addressed.
Curr. Oncol. 2016, 23(5), 298-303; https://doi.org/10.3747/co.23.3054
Submission received: 12 July 2016 / Revised: 14 August 2016 / Accepted: 8 September 2016 / Published: 1 October 2016

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.
Keywords: basal-like phenotype; BRCA1; BRCA2; triple-negative breast cancer basal-like phenotype; BRCA1; BRCA2; triple-negative breast cancer

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MDPI and ACS Style

Jung, J.; Kang, E.; Gwak, J.M.; Seo, A.N.; Park, S.Y.; Lee, A.S.; Baek, H.; Chae, S.; Kim, E.K.; Kim, S.W. Association between Basal-Like Phenotype and BRCA1/2 Germline Mutations in Korean Breast Cancer Patients. Curr. Oncol. 2016, 23, 298-303. https://doi.org/10.3747/co.23.3054

AMA Style

Jung J, Kang E, Gwak JM, Seo AN, Park SY, Lee AS, Baek H, Chae S, Kim EK, Kim SW. Association between Basal-Like Phenotype and BRCA1/2 Germline Mutations in Korean Breast Cancer Patients. Current Oncology. 2016; 23(5):298-303. https://doi.org/10.3747/co.23.3054

Chicago/Turabian Style

Jung, J., E. Kang, J.M. Gwak, A.N. Seo, S.Y. Park, A.S. Lee, H. Baek, S. Chae, E.K. Kim, and S.W. Kim. 2016. "Association between Basal-Like Phenotype and BRCA1/2 Germline Mutations in Korean Breast Cancer Patients" Current Oncology 23, no. 5: 298-303. https://doi.org/10.3747/co.23.3054

APA Style

Jung, J., Kang, E., Gwak, J. M., Seo, A. N., Park, S. Y., Lee, A. S., Baek, H., Chae, S., Kim, E. K., & Kim, S. W. (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

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