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Lack of evidence for CDK12 as an ovarian cancer predisposing gene

Alexandre Eeckhoutte 1 Mathilde Saint-Ghislain 1 Manon Reverdy 1 Virginie Raynal 1, 2 Sylvain Baulande 2 Guillaume Bataillon 3 Lisa Golmard 4 Dominique Stoppa-Lyonnet 1, 4 Tatiana Popova 1 Claude Houdayer 4, 5 Elodie Manié 1 Marc-Henri Stern 1, 4
1 U830 - Unité de génétique et biologie des cancers
2 NGS - ICGex - Plateforme de Séquençage ADN haut débit [Institut Curie]
3 Département de Biopathologie [Institut Curie, Paris]
4 Unité de Pharmacogénomique - Département de Génétique [Institut Curie, Paris]
5 GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques
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 ovarian carcinoma pool sequencing NGS
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Journal articles
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https://www.hal.inserm.fr/inserm-03036539
Contributor : Marc-Henri Stern <>
Submitted on : Wednesday, December 2, 2020 - 4:52:42 PM
Last modification on : Friday, December 4, 2020 - 3:30:46 AM
Long-term archiving on: : Wednesday, March 3, 2021 - 8:00:05 PM

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INSERM | CURIE | PSL | FNCLCC | UNIROUEN | GPMCND | COMUE-NORMANDIE | UNIV-PARIS

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Alexandre Eeckhoutte, Mathilde Saint-Ghislain, Manon Reverdy, Virginie Raynal, Sylvain Baulande, et al.. Lack of evidence for CDK12 as an ovarian cancer predisposing gene. Familial Cancer, Springer Verlag (Germany), 2020, 19 (3), pp.203-209. ⟨10.1007/s10689-020-00169-2⟩. ⟨inserm-03036539⟩

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