CDK12 variants were investigated as a genetic susceptibility to ovarian cancer in a series of 416 unrelated and consecutive patients with ovarian carcinoma and who carry neither germline BRCA1 nor BRCA2 pathogenic variant. The presence of CDK12 variants was searched in germline DNA by massive parallel sequencing on pooled DNAs. The lack of detection of deleterious variants and the observed proportion of missense variants in the series of ovarian carcinoma patients as compared with all human populations strongly suggests that CDK12 is not an ovarian cancer predisposing gene.

中文翻译：

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缺乏CDK12作为卵巢癌易感基因的证据。

在一系列416例不相关和连续的卵巢癌患者中，既不携带种系BRCA1也不携带BRCA2致病性变异体，研究了CDK12变异体对卵巢癌的遗传易感性。通过对合并的DNA进行大规模平行测序，在种系DNA中搜索CDK12变体的存在。与所有人类人群相比，在一系列卵巢癌患者中缺乏有害变体的检测和观察到的错义变体的比例，强烈表明CDK12不是卵巢癌的易感基因。