Characterization of frequently mutated cancer genes in Chinese breast tumors: a comparison of Chinese and TCGA cohorts
Characterization of frequently mutated cancer genes in Chinese breast tumors: a comparison of Chinese and TCGA cohorts
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中国乳腺肿瘤中频繁突变癌症基因的特征：中国和 TCGA 队列的比较
DOI：
10.21037/atm.2019.04.23
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发表时间：
2019-04-01
影响因子：
--
通讯作者：
Liao, Ning
中科院分区：
文献类型：
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作者：
Zhang, Guochun;Wang, Yulei;Liao, Ning
背景：西方人群对乳腺癌在临床、形态和基因组水平上的复杂性进行了广泛的研究。方法：我们利用一个由33个乳腺癌相关基因组成的小组，对广东省人民医院304例连续接受治疗的中国乳腺癌患者的基因组图谱进行了有针对性的测序，并将结果与癌症基因组图谱(TCGA)中453例高加索人乳腺癌患者的结果进行了比较。结果：突变频率最高的基因是TP53(45%)，其次是PIK3CA(44%)，GATA3(18%)，MAP3K1(10%)，而拷贝数扩增多见于ERBB2(24%)、MYC(23%)、FGFR1(13%)和CCND1(10%)基因。在8个最常见的突变或扩增基因中，在87.5%(n=267)的GDPH队列中至少有一个驱动基因可被识别，这表明这些已知的驱动基因在中国人乳腺癌的发生发展中做出了重要贡献。与TCGA数据相比，我们队列中确诊时的中位年龄明显更年轻(48岁对58岁；P
Background: The complexity of breast cancer at the clinical, morphological and genomic levels has been extensively studied in the western population. However, the mutational genomic profiles in Chinese breast cancer patients have not been explored in any detail.Methods: We performed targeted sequencing using a panel consisting of 33 breast cancer-related genes to investigate the genomic landscape of 304 consecutive treatment-naive Chinese breast cancer patients at Guangdong Provincial People's Hospital (GDPH), and further compared the results to those in 453 of Caucasian breast cancer patients from The Cancer Genome Atlas (TCGA).Results: The most frequently mutated gene was TP53 (45%), followed by PIK3CA (44%), GATA3 (18%), MAP3K1 (10%), whereas the copy-number amplifications were frequently observed in genes of ERBB2 (24%), MYC (23%), FGFR1 (13%) and CCND1 (10%). Among the 8 most frequently mutated or amplified genes, at least one driver was identifiable in 87.5% (n=267) of our GDPH cohort, revealing the significant contribution of these known driver genes in the development of Chinese breast cancer. Compared to TCGA data, the median age at diagnosis in our cohort was significantly younger (48 vs. 58 years; P