检索历史 清除

摘要Breast cancer is the most common form of malignancy among female and has a strong genetic background. So far, 13 breast cancer susceptibility genes described to be high or moderate penetrance have been identified. This review summarizes these genes in the Han Chinese population. It is found that:1) BRCA1 and BRCA2 are the two major susceptibility genes with a relatively low mutation rate and the most frequent sites of mutation are in exon 11. The mutations are mainly of frame-shift type. Founder mutations may also exist and RRCA-associated breast cancer has specific clinicopathological characteristics;2) TP53 and PALB2 are relatively rare susceptibility genes; 3) the relationship between other 9 genes and breast cancer has not been fully elucidated. At present, the mutation spectrum for these susceptibility genes has not been elucidated in Chinese population and there is lack of reports on prognosis and clinical intervention in high-risk populations. Therefore, the true value of genetic counseling for breast cancer has not yet been reflected. This article reviews the studies of hereditary breast cancer in the Han Chinese population. It also points out the inadequacies exist and may provide basis for genetic counseling for breast cancer in China.