Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high-risk breast cancer
Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high-risk breast cancer
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中国高危乳腺癌患者BRCA1和BRCA2基因突变患病率
DOI：
10.1002/mgg3.677
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发表时间：
2019
影响因子：
2
通讯作者：
Fan Zhimin
中科院分区：
文献类型：
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作者：
Wang Xiaozhen;Liu Haimeng;Maimaitiaili Amina;Zhao Gang;Li Sijie;Lv Zheng;Wu Di;Shi Aiping;Guan Xin;Jia Hongyao;Li Menghan;Song Dong;Kang Lihua;Han Bing;Fu Tong;Yang Ming;Zhu Zhu;Du Ye;Song Yanqiu;Hong Jinghui;Fan Zhimin
背景乳腺癌是世界范围内女性最常见的癌症。在这里，我们报告了来自中国内蒙古和吉林的高危乳腺癌患者中BRCA 1/2突变的患病率，这是中国遗传性乳腺癌患者BRCA 1/2突变检测全国项目的一部分。所有49个外显子的BRCA 1和BRCA 2和相邻的非编码区进行了筛选突变的基础上下一代测序从收集salive.ResultsWe检测到17 BRCA 1/2变异18 216（8.3%）指数患者的高风险乳腺癌。其中，7个突变为新突变，包括4个BRCA 1突变（c.123_124delCAinsAT、c.5093_5096delCTAA、c.5396 - 2A>G和c.2054delinsGAAGAGTAACAAGTAAGAAGAGTAACAAGAAG）和3个BRCA 2突变（c.304A>T、c.7552_7553insT和c.9548_9549insA）。在14%（8/57）的三阴性乳腺癌患者和6.3%（10/159）的非三阴性乳腺癌患者中鉴定出BRCA 1/2变异。两组之间无显著差异（p= 0.07）。在三阴性乳腺癌患者中观察到的BRCA 1突变频率高于非三阴性乳腺癌患者（12.3% vs. 2.5%，p = 0.004）。BRCA 2基因突变频率在三阴性乳腺癌和非三阴性乳腺癌患者之间无显著性差异（1.8%vs.3.8%，p = 0.46）。在这项研究中，没有观察到BRCA 1/2突变状态与年龄、乳腺癌、卵巢癌、胰腺癌和前列腺癌家族史、原发病灶数量、肿瘤大小或淋巴结转移之间的显著相关性。
BackgroundBreast cancer is the most common cancer among women worldwide. Here, we report the prevalence ofBRCA1/2mutations in patients with high‐risk breast cancer from Inner Mongolia and Jilin, China, which was a part of a nationwide project on the detection ofBRCA1/2mutations in Chinese patients with hereditary breast cancer.MethodsAccording to the criteria, index patients from a total of 245 independent families were initially recruited. All 49 exons ofBRCA1andBRCA2and adjacent noncoding regions were screened for mutations based on next‐generation sequencing from collected saliva.ResultsWe detected 17BRCA1/2variants in 18 of 216 (8.3%) index patients with high‐risk breast cancer. Among these, seven mutations were novel, including fourBRCA1mutations (c.123_124delCAinsAT, c.5093_5096delCTAA, c.5396‐2A>G, and c.2054delinsGAAGAGTAACAAGTAAGAAGAGTAACAAGAAG), and threeBRCA2mutations (c.304A>T, c.7552_7553insT, and c.9548_9549insA). TheBRCA1/2variants were identified in 14% (8/57) of the patients with triple‐negative breast cancer and in 6.3% (10/159) of the patients with non‐triple‐negative breast cancer. There was no significant difference between the two groups (p= 0.07). A higher frequency forBRCA1mutations was observed in patients with triple‐negative breast cancer than in those with non‐triple‐negative breast cancer (12.3% vs. 2.5%,p= 0.004). The frequencies of theBRCA2mutations were not significantly different between patients with triple‐negative breast cancer and those with non‐triple‐negative breast cancer (1.8% vs. 3.8%,p= 0.46).ConclusionWe found that patients with triple‐negative breast cancer had a higher frequency ofBRCA1mutations than those with non‐triple‐negative breast cancer. In this study, no significant associations between theBRCA1/2mutation status and age, family history of breast cancer, ovarian cancer, pancreatic cancer and prostate cancer, number of primary lesions, tumor size, or lymph node metastasis were observed.