Lack of evidence for CDK12 as an ovarian cancer predisposing gene

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 parall...

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Bibliographic Details
Published in:Familial cancer 2020-07, Vol.19 (3), p.203-209
Main Authors: Eeckhoutte, Alexandre, Saint-Ghislain, Mathilde, Reverdy, Manon, Raynal, Virginie, Baulande, Sylvain, Bataillon, Guillaume, Golmard, Lisa, Stoppa-Lyonnet, Dominique, Popova, Tatiana, Houdayer, Claude, Manié, Elodie, Stern, Marc-Henri
Format: Article
Language:English
Subjects:
Biomedical and Life Sciences
Biomedicine
BRCA1 protein
BRCA2 protein
Cancer
Cancer Research
DNA sequencing
Epidemiology
Human Genetics
Life Sciences
Original Article
Ovarian cancer
Ovarian carcinoma
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Summary: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.
ISSN:1389-9600
1573-7292
DOI:10.1007/s10689-020-00169-2