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01-07-2020 | Ovarian Cancer | Original Article

Lack of evidence for CDK12 as an ovarian cancer predisposing gene

Authors: Alexandre Eeckhoutte, Mathilde Saint-Ghislain, Manon Reverdy, Virginie Raynal, Sylvain Baulande, Guillaume Bataillon, Lisa Golmard, Dominique Stoppa-Lyonnet, Tatiana Popova, Claude Houdayer, Elodie Manié, Marc-Henri Stern

Published in: Familial Cancer | Issue 3/2020

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.

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Title: Lack of evidence for CDK12 as an ovarian cancer predisposing gene
Authors: Alexandre Eeckhoutte
Mathilde Saint-Ghislain
Manon Reverdy
Virginie Raynal
Sylvain Baulande
Guillaume Bataillon
Lisa Golmard
Dominique Stoppa-Lyonnet
Tatiana Popova
Claude Houdayer
Elodie Manié
Marc-Henri Stern
Publication date: 01-07-2020
Publisher: Springer Netherlands
Keywords: Ovarian Cancer
Ovarian Cancer
Published in: Familial Cancer / Issue 3/2020
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-020-00169-2

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