Institute of Cell Biology, Zhejiang University, Hangzhou, China.
J Epidemiol. 2013;23(2):75-84. doi: 10.2188/jea.je20120043. Epub 2013 Jan 12.
Breast cancer is the most common malignancy among women and has a strong genetic background. So far, 13 breast cancer susceptibility genes of high or moderate penetrance have been identified. This review summarizes findings on these genes in Han Chinese. BRCA1 and BRCA2 are the 2 most important susceptibility genes. They have a relatively low mutation rate, and the most frequent sites of mutation are in exon 11. Frameshift mutations are the main type of mutation. Founder mutations may also exist, and BRCA-associated breast cancer has specific clinicopathologic characteristics. TP53 and PALB2 are relatively rare susceptibility genes. The relationship between the other 9 genes and breast cancer has not been fully elucidated. At present, the mutation spectrum for these susceptibility genes is not well understood in the Chinese population, and there are few reports on prognosis and clinical intervention in high-risk populations. Therefore, the true value of genetic counseling for breast cancer has yet to be realized. This article reviews studies of hereditary breast cancer in the Han Chinese population, highlights potential inadequacies, and provides a foundation for genetic counseling for breast cancer in China.
乳腺癌是女性中最常见的恶性肿瘤，具有很强的遗传背景。迄今为止，已经确定了 13 个具有高或中等外显率的乳腺癌易感基因。本综述总结了这些基因在汉族人群中的研究发现。BRCA1 和 BRCA2 是 2 个最重要的易感基因。它们的突变率相对较低，最常见的突变部位在第 11 外显子。移码突变是主要的突变类型。也可能存在种系突变，BRCA 相关乳腺癌具有特定的临床病理特征。TP53 和 PALB2 是相对罕见的易感基因。其他 9 个基因与乳腺癌的关系尚未完全阐明。目前，中国人群对这些易感基因的突变谱了解甚少，也很少有关于高危人群预后和临床干预的报道。因此，遗传咨询在乳腺癌中的真正价值尚未得到体现。本文综述了汉族遗传性乳腺癌的研究，突出了潜在的不足，为中国的乳腺癌遗传咨询提供了基础。
