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. 2020 Jul;19(3):203-209.
doi: 10.1007/s10689-020-00169-2.

Lack of evidence for CDK12 as an ovarian cancer predisposing gene

Alexandre Eeckhoutte  1   2 , Mathilde Saint-Ghislain  1   2 , Manon Reverdy  1   2 , Virginie Raynal  2   3 , Sylvain Baulande  3 , Guillaume Bataillon  4 , Lisa Golmard  5 , Dominique Stoppa-Lyonnet  1   5   6 , Tatiana Popova  1   2 , Claude Houdayer  5   7 , Elodie Manié  1   2 , Marc-Henri Stern  8   9   10
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Free article

Lack of evidence for CDK12 as an ovarian cancer predisposing gene

Alexandre Eeckhoutte et al. Fam Cancer. 2020 Jul.
Free article

Abstract

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.

Keywords: CDK12; Cancer susceptibility; NGS; Ovarian carcinoma; Pool sequencing.

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