BRCA1 Germ-Line Mutations and Tumor Characteristics in Eastern Chinese Women with Familial Breast Cancer
Article first published online: 23 NOV 2012
Copyright © 2012 Wiley Periodicals, Inc.
The Anatomical Record
Volume 296, Issue 2, pages 273–278, February 2013
How to Cite
Cao, W., Wang, X., Gao, Y., Yang, H. and Li, J.-C. (2013), BRCA1 Germ-Line Mutations and Tumor Characteristics in Eastern Chinese Women with Familial Breast Cancer. Anat Rec, 296: 273–278. doi: 10.1002/ar.22628
- Issue published online: 25 JAN 2013
- Article first published online: 23 NOV 2012
- Manuscript Accepted: 30 OCT 2012
- Manuscript Received: 8 JUL 2012
- Scientific Research Foundation in Medical Health of Zhejiang Province. Grant Number: 2007A03
- Chinese women;
- familial breast cancer;
- clinical features
Although several studies detected the BRCA1 germ-line mutations in Chinese women with familial breast cancer, most of them did not employ conventional full gene sequencing, especially in eastern China. In addition, the clinicopathological features of BRCA1-associated breast cancer in Chinese women were not well investigated. In this study, we screened the complete coding regions and exon-intron boundaries of BRCA1 by polymerase chain reaction (PCR)-sequencing assay. Immunohistochemistry analyses were performed on tumor samples to detect the expression of estrogen receptor (ER), progesterone receptor (PR), P53, and human epidermal growth factor receptor-2 (HER-2). Breast cancer patients having one or more affected relatives referred from the Zhejiang Cancer Hospital, eastern China during 2008–2011 were selected for the study. A total of 62 familial breast cancer patients received the BRCA1 germ-line mutation screening. Five deleterious mutations were detected in this cohort. The mutation rate was 11.3% (7/62). We found two novel mutations (3414delC and 5,280 C > T) and two recurrent mutations (5,273 G > A and 5589del8). BRCA1 mutation tumors tended to be negative for ER, PR, and HER-2, and exhibited high histological grade compared with tumors without BRCA1 mutations. Our study suggests that recurrent mutations may exist in eastern Chinese women with familial breast cancer and PCR-sequencing assay is a useful tool to screen these mutations. It also suggests that BRCA1-associated breast cancers in Chinese women exhibit an aggressive phenotype. Anat Rec, 2013. © 2012 Wiley Periodicals, Inc.