Lack of evidence for CDK12 as an ovarian cancer predisposing gene.

Cyclin-Dependent Kinases / genetics Female Genes, BRCA1 Genes, BRCA2 Genes, Tumor Suppressor Genetic Predisposition to Disease Genetic Profile Genetic Variation Germ-Line Mutation High-Throughput Nucleotide Sequencing / methods Humans Middle Aged Ovarian Neoplasms / genetics
CDK12 Cancer susceptibility NGS Ovarian carcinoma Pool sequencing

Journal

Familial cancer
ISSN: 1573-7292
Titre abrégé: Fam Cancer
Pays: Netherlands
ID NLM: 100898211

Informations de publication

Date de publication:
07 2020
Historique:
pubmed: 17 3 2020
medline: 25 5 2021
entrez: 16 3 2020
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1007/s10689-020-00169-2 PMID: 32172432
pubmed: 32172432
doi: 10.1007/s10689-020-00169-2
pii: 10.1007/s10689-020-00169-2
doi:

Substances chimiques

CDK12 protein, human EC 2.7.11.22
Cyclin-Dependent Kinases EC 2.7.11.22

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

203-209

Auteurs

Alexandre Eeckhoutte (A)

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.

Mathilde Saint-Ghislain (M)

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.

Manon Reverdy (M)

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.

Virginie Raynal (V)

Inserm U830, Institut Curie, PSL Research University, 26 Rue d'Ulm, 75248, Paris, France.
NGS Platform, Institut Curie, PSL Research University, 26 Rue d'Ulm, 75248, Paris, France.

Sylvain Baulande (S)

NGS Platform, Institut Curie, PSL Research University, 26 Rue d'Ulm, 75248, Paris, France.

Guillaume Bataillon (G)

Department of Biopathology, Institut Curie, PSL Research University, 26 rue d'Ulm, 75248, Paris, France.

Lisa Golmard (L)

Institut Curie, Hôpital, Service de Génétique, 26 Rue d'Ulm, 75248, Paris, France.

Dominique Stoppa-Lyonnet (D)

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.
Institut Curie, Hôpital, Service de Génétique, 26 Rue d'Ulm, 75248, Paris, France.
University Paris Descartes, Sorbonne Paris Cité, 12 Rue de l'École de Médecine, 75006, Paris, France.

Tatiana Popova (T)

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.

Claude Houdayer (C)

Institut Curie, Hôpital, Service de Génétique, 26 Rue d'Ulm, 75248, Paris, France.
Department of Genetics, Normandy University, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, 37 Boulevard Gambetta, 76000, Rouen, France.

Elodie Manié (E)

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.

Marc-Henri Stern (MH)

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. marc-henri.stern@curie.fr.
Inserm U830, Institut Curie, PSL Research University, 26 Rue d'Ulm, 75248, Paris, France. marc-henri.stern@curie.fr.
Institut Curie, Hôpital, Service de Génétique, 26 Rue d'Ulm, 75248, Paris, France. marc-henri.stern@curie.fr.
ORCID: 0000-0002-8100-2272

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Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protein-Serine-Threonine Kinases › Proline-directed protein kinases › Kinases cyclines-dépendantes › Lack of evidence for CDK12 as an ovarian...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Gènes suppresseurs de tumeur › Gène BRCA1 › Lack of evidence for CDK12 as an ovarian...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Gènes suppresseurs de tumeur › Gène BRCA2 › Lack of evidence for CDK12 as an ovarian...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Gènes suppresseurs de tumeur › Lack of evidence for CDK12 as an ovarian...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Lack of evidence for CDK12 as an ovarian...
questionsmedicales.fr › Phénomènes génétiques › Contexte génétique › Profil génétique › Lack of evidence for CDK12 as an ovarian...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Lack of evidence for CDK12 as an ovarian...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation germinale › Lack of evidence for CDK12 as an ovarian...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Séquençage nucléotidique à haut débit › Lack of evidence for CDK12 as an ovarian...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Lack of evidence for CDK12 as an ovarian...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Lack of evidence for CDK12 as an ovarian...
questionsmedicales.fr › Maladies endocriniennes › Troubles gonadiques › Maladies ovariennes › Tumeurs de l'ovaire › Lack of evidence for CDK12 as an ovarian...