Genes Linked To Breast Cancer In East Asian Women Identified

Qiuyin Cai, M.D., Ph.D. Associate Professor of Medicine Vanderbilt University

Dr. Qiuyin Cai, M.D., Ph.D. Courtesy: Vanderbilt University Interview with:
Qiuyin Cai, M.D., Ph.D.
Associate Professor of Medicine
Vanderbilt University

Medical Research: What are the main findings of the study?

Dr. Cai: We conducted a genome-wide association study in East Asians to search for additional genetic changes that are linked to breast cancer development. The study was conducted as part of the Asia Breast Cancer Consortium, which includes 22,780 women with breast cancer and 24,181 control subjects. We found DNA sequence changes in two genes, PRC1 and ZC3H11A, and a change near the ARRDC3 gene were associated with breast cancer risk. These results were also replicated in a large consortium, including 16,003 breast cancer cases and 41,335 control subjects of European ancestry.

Medical Research:
Were any of the findings unexpected?

Dr. Cai: ARRDC3 and PRC1 genes were previously linked to breast cancer growth and poor survival in breast cancer patients, respectively. The role of ZC3H11A in breast cancer is unknown.

Medical Research: What should clinicians and patients take away from your report?

Dr. Cai: The risk of breast cancer conferred by each of these new genetic markers is relatively small. However, these new markers could be combined in the future with other breast cancer predictors, including genetic markers identified previously, to identify potentially high-risk women for screening and other prevention programs.

Medical Research: What recommendations do you have for future research as a result of this study?

Dr. Cai: Further studies of possible mechanisms through which these loci and genes are involved in breast cancer development are warranted. In addition, well-powered genome-wide association studies are useful to identify additional genetic risk loci for breast cancer.


Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.
Qiuyin Cai,Ben Zhang,Hyuna Sung,Siew-Kee Low,Sun-Seog Kweon,Wei Lu,Jiajun Shi,Jirong Long,Wanqing Wen,Ji-Yeob Choi,Dong-Young Noh,Chen-Yang Shen,Keitaro Matsuo,Soo-Hwang Teo,Mi Kyung Kim,Ui Soon Khoo,Motoki Iwasaki,Mikael Hartman,Atsushi Takahashi,Kyota Ashikawa,Koichi Matsuda,Min-Ho Shin,Min Ho Park,Ying Zheng,Yong-Bing Xiang et al.

Nature Genetics (2014) doi:10.1038/ng.3041
Received 04 November 2013 Accepted 27 June 2014
Published online 20 July 2014