Germline mutation

Germline mutations of DICER1 in Chinese women with BRCA1/BRCA2-negative familial breast cancer

W. - M. Cao, Gao, Y., Yang, H. - J., Xie, S. - N., Meng, X. - L., Pan, Z. - W., Chen, Z. - H., Huang, J., Ye, W. - W., Shao, X. - Y., and Wang, X. - J., Germline mutations of DICER1 in Chinese women with BRCA1/BRCA2-negative familial breast cancer, vol. 13, pp. 10754-10760, 2014.

Germline mutations in identified breast cancer susceptibility genes account for less than 20% of Chinese familial breast cancers. Dicer is an essential component of the microRNA-producing machinery; germline mutations of DICER1 have been confirmed in familial pleuropulmonary blastoma, ovarian sex cord-stromal tumors, and other cancers. Low expression of DICER1 is frequently detected in breast cancer. However, whether germline mutations of DICER1 occur in familial breast cancers remain unknown.

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