福建医科大学检测三千卵巢癌患者的BRCA基因

文章是“”https://doi.org/10.1016/j.ygyno.2018.07.024 这个时候不再是乳腺癌了，因为BRCA基因先天性缺陷会导致女性癌症，包括乳腺癌和卵巢癌。 华西医院检测五百多乳腺癌患者的BRCA基因

而且也不仅仅是检测卵巢癌患者的BRCA基因，还包括同样规模正常人的BRCA基因。

这个同等规模正常人的频率，可以在其它癌症患者的BRCA基因基因筛查研究用上吧，比如前面的：华西医院检测五百多乳腺癌患者的BRCA基因

样本量

这个样本量算是很可观的了

We performed BRCA mutation screening using next-generation sequencing to determine the prevalence of BRCA germline deleterious mutations in an unselected cohort of Chinese OC patients (n = 1331) versus healthy controls (n = 1763) and describe the types and spectrum of BRCA deleterious variants.

也是NGS的：The BRCA1/2 panel (Morgen, China) was used which covers the entire coding sequences of BRCA1 and BRCA2 including 10–50 bases of adjacent intronic sequence of each exon.

使用的是 NextSeqCN500 (BerryGenomics, China) 300 cycle reagent cartridge corresponding to 2 × 150 bp paired end configuration. The average depth of each run was over 200×.

结论

Of the 1331 patients with OC, 227 (17.1%) had pathogenic mutations in BRCA1 and 70 (5.3%) had deleterious mutations in BRCA2.

Of 1763 control subjects, 6 (0.3%) carried deleterious variants in BRCA1 and 2 (0.1%) had deleterious variants in BRCA2

可以看到频率还是稍微有点高的，当然看图更方便理解

In this study, we found 131 pathogenic (class 5, 65.8%) and 68 likely-pathogenic (class 4, 34.2%) in patients (Fig. 2a), characterized by frameshifts, nonsense or splicing sites changes, or missense mutations according to existing database.