华西医院检测五百多乳腺癌患者的BRCA基因

文章发表于：June 3, 2016 https://doi.org/10.1371/journal.pone.0156789
单位： the Breast Cancer Information Management System (BCIMS) at West China Hospital, Sichuan University
华西医院的研究纳入的乳腺癌患者：Between Feb. 2008 and Feb. 2014, there were a total of 5103 patients registered, about 600 to 900 new cases per year. 
最后只有 Finally, 507 patients were eligible for BRCA test and clinical characteristics analysis.

检测germline突变的3步骤

  • Tumor DNA samples were screened for variants in all coding exons and the splice boundaries (-20/+10 bp) of BRCA1 and BRCA2 genes using NGS on a MiSeq system (Illumina, USA).

  • All variant candidates were successfully validated in tumors using Sanger sequencing, or the MassARRAY system (Sequenom, USA), or long-range PCR.

  • Somatic or germline status was confirmed by testing the paired blood or normal tissue sample using Sanger sequencing.

主要结论

BRCA1/2 pathogenic or likely pathogenic (P/LP) variants were detected in 50 patients (9.9%), including 40 germline carriers (18 in BRCA1, 22 in BRCA2), 9 patients with somatic variants (3 in BRCA1, 6 in BRCA2), and 1 patient with concurrent germline/somatic variants in BRCA2.

The triple-negative (21.4%) and Luminal B (9.7%) subtypes had higher rates of BRCA1/2variants.

S2 Table. BRCA1 and BRCA2 variants identified by next-generaation sequencing.

https://doi.org/10.1371/journal.pone.0156789.s003

数据利用

可以做meta分析，这里中国人的乳腺癌BRCA1/2基因的易感位点数据库

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