Inserm U830, DNA Repair and Uveal Melanoma (D.R.U.M.), Equipe Labellisee par la Ligue Nationale Contre le Cancer, Institut Curie, 26 Rue d'Ulm, 75248, Paris, France.
Inserm U830, Institut Curie, PSL Research University, 26 Rue d'Ulm, 75248, Paris, France.
Fam Cancer. 2020 Jul;19(3):203-209. doi: 10.1007/s10689-020-00169-2.
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.
对 416 名无家族性 BRCA1 或 BRCA2 致病突变且不携带胚系 BRCA1 或 BRCA2 致病突变的卵巢癌患者进行了一系列研究，以探讨 CDK12 变体是否为卵巢癌的遗传易感性。通过对混合 DNA 进行大规模平行测序，在胚系 DNA 中搜索 CDK12 变体的存在。在卵巢癌患者系列中，与所有人群相比，未检测到有害变异体的存在以及观察到的错义变异体的比例强烈表明 CDK12 不是卵巢癌易感基因。
