Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883).

BRCA1 Protein BRCA2 Protein Biomarkers, Tumor Computational Biology / methods DNA Copy Number Variations DNA Methylation Female Genetic Association Studies / methods Genetic Predisposition to Disease Genetic Testing Germ-Line Mutation High-Throughput Nucleotide Sequencing Humans Ovarian Neoplasms / diagnosis Prevalence Promoter Regions, Genetic Sequence Deletion
germline variant methylation ovarian cancer somatic variant targeted therapy

Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
09 2019
Historique:
received: 07 12 2018
revised: 26 02 2019
accepted: 14 03 2019
pubmed: 14 4 2019
medline: 12 6 2020
entrez: 14 4 2019
Statut: ppublish

Résumé

For individuals with ovarian cancer (OC), therapy options mainly depend on Paired analysis of tumour-derived versus blood-derived DNA to determine the prevalence of deleterious somatic variants in OC predisposition genes ( The combined analyses revealed that deleterious germline variants in established OC predisposition genes (all: 125/473, 26.4%; Tumour sequencing of the NCT02222883.

Sections du résumé

BACKGROUND
For individuals with ovarian cancer (OC), therapy options mainly depend on
METHODS
Paired analysis of tumour-derived versus blood-derived DNA to determine the prevalence of deleterious somatic variants in OC predisposition genes (
RESULTS
The combined analyses revealed that deleterious germline variants in established OC predisposition genes (all: 125/473, 26.4%;
CONCLUSION
Tumour sequencing of the
TRIAL REGISTRATION NUMBER
NCT02222883.

Identifiants

DOI: 10.1136/jmedgenet-2018-105930 PMID: 30979843
pubmed: 30979843
pii: jmedgenet-2018-105930
doi: 10.1136/jmedgenet-2018-105930
doi:

Substances chimiques

BRCA1 Protein 0
BRCA1 protein, human 0
BRCA2 Protein 0
BRCA2 protein, human 0
Biomarkers, Tumor 0

Banques de données

ClinicalTrials.gov
['NCT02222883']

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

574-580

Informations de copyright

© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: EH: honoraria: AstraZeneca; consulting or advisory role: AstraZeneca; research funding: Astra Zeneca (Inst). SS: honoraria: Roche; consulting or advisory role: Tesaro. KK: honoraria: Roche, Pfizer and AstraZeneca. JP: honoraria: Roche Pharma AG; consulting or advisory role: Amgen, AstraZeneca, Coherus Bioscience, DeciBio, F. Hoffmann-La Roche, Pharmamar, Shield Therapeutics, Simon Kucher & Partner, Taylor Wessing LLP and Tesaro; research funding: Astra Zeneca, Hoffmann-La Roche and Tesaro; travel, accommodations and expenses: Amgen, Astra Zeneca, F. Hoffmann-La Roche and Tesaro. AS: honoraria: TEVA and Gedeon Richter; consulting or advisory role: Astra Zeneca and Roche. SK: honoraria: AstraZeneca and Roche; consulting or advisory role: Roche. KP: travel and research funding: Medac Oncology; honoraria: AstraZeneca and Roche. DD is a consultant for AJ Innuscreen GmbH (Berlin, Germany), a 100% daughter company of Analytik Jena AG (Jena, Germany) and receives royalties from product sales (innuCONVERT kits). AdB: consulting or advisory role: AstraZeneca, Pfizer, Pharmamar, Roche/Genentech, Advaxis, Tesaro, Genmab, Clovis and Biocad. RKS: honoraria: AstraZeneca; consulting or advisory role: AstraZeneca; research funding: AstraZeneca (Inst); patents, royalties, other intellectual property: University of Cologne. CK: consulting and advisory role: AstraZeneca and Roche/Genentech. PH: consulting or advisory role: AstraZeneca, Roche/Genentech, Tesaro, Clovis, Pharmamar Lilly and Sotio; research funding: AstraZeneca (Inst); travel, accommodations and expenses: Medac.

Auteurs

Jan Hauke (J)

Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
ORCID: 0000-0001-8236-4075

Eric Hahnen (E)

Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany eric.hahnen@uk-koeln.de.

Stephanie Schneider (S)

Department of Gynecology and Gynecologic Oncology, Kliniken Essen-Mitte Evangelische Huyssens-Stiftung/Knappschaft GmbH, Essen, Germany.

Alexander Reuss (A)

Coordinating Center for Clinical Trials, Philipps-University of Marburg, Marburg, Germany.

Lisa Richters (L)

Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.

Stefan Kommoss (S)

Department of Women's Health, University Hospital Tuebingen, Tuebingen, Germany.

André Heimbach (A)

Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.

Frederik Marmé (F)

National Center for Tumor Disease, Department of Gynecology, University of Heidelberg, Heidelberg, Germany.

Sandra Schmidt (S)

Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.

Katharina Prieske (K)

Department of Gynecology and Gynecologic Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Heidrun Gevensleben (H)

Institute of Pathology, University Hospital Bonn, Bonn, Germany.

Alexander Burges (A)

Department of Gynecology, University Hospital Munich-Großhadern, Munich, Germany.

Julika Borde (J)

Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.

Nikolaus De Gregorio (N)

Department of Gynecology and Obstetrics, University Hospital, Universität Ulm, Ulm, Germany.

Peter Nürnberg (P)

Cologne Center for Genomics (CCG) & Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.

Ahmed El-Balat (A)

Department of Gynecology, University of Frankfurt, Frankfurt, Germany.

Holger Thiele (H)

Cologne Center for Genomics (CCG) & Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
Center for Molecular Medicine Cologne (CMMC), University Hospital Cologne, Cologne, Germany.

Felix Hilpert (F)

Department of Gynecology, University of Kiel, Kiel, Germany.
Onkologisches Therapiezentrum, Krankenhaus Jerusalem, Hamburg, Germany.

Janine Altmüller (J)

Cologne Center for Genomics (CCG) & Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
Center for Molecular Medicine Cologne (CMMC), University Hospital Cologne, Cologne, Germany.

Werner Meier (W)

Department of Gynecology and Obstetrics, University Hospital Duesseldorf, Duesseldorf, Germany.

Dimo Dietrich (D)

Department of Otolaryngology, Head and Neck Surgery, University Hospital Bonn, Bonn, Germany.

Rainer Kimmig (R)

Department of Gynecology, University of Essen, Essen, Germany.

Birgid Schoemig-Markiefka (B)

Institute of Pathology, University Hospital Cologne, Cologne, Germany.

Karin Kast (K)

Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
German Cancer Consortium (DKTK), Dresden and German Cancer Research Center (DKFZ), National Center for Tumor Diseases (NCT), Partner Site Dresden, Heidelberg, Germany.

Elena Braicu (E)

Department of Gynecology and Gynecological Oncology, Charité, Berlin, Germany.

Klaus Baumann (K)

Department of Gynecology, Gynecologic Endocrinology and Oncology, University of Gießen and Marburg GmbH, Marburg, Germany.
Department of Gynecology and Obstetrics, Klinikum Ludwigshafen, Ludwigshafen, Germany.

Christian Jackisch (C)

Department of Gynecology and Obstetrics, Sana Klinikum, Offenbach, Germany.

Tjoung-Won Park-Simon (TW)

Department of Gynecology, Hannover Medical School, Hannover, Germany.

Corinna Ernst (C)

Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.

Lars Hanker (L)

Department of Gynecology & Obstetrics, University Hospital Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.

Jacobus Pfisterer (J)

Gynecologic Oncology Center, Kiel, Germany.

Andreas Schnelzer (A)

Department of Obstetrics and Gynecology, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.
Department of Obstetrics and Gynecology, RoMed Klinikum Rosenheim, Rosenheim, Germany.

Andreas du Bois (A)

Department of Gynecology and Gynecologic Oncology, Kliniken Essen-Mitte Evangelische Huyssens-Stiftung/Knappschaft GmbH, Essen, Germany.

Rita K Schmutzler (RK)

Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.

Philipp Harter (P)

Department of Gynecology and Gynecologic Oncology, Kliniken Essen-Mitte Evangelische Huyssens-Stiftung/Knappschaft GmbH, Essen, Germany.

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Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéine BRCA1 › Deleterious somatic variants in 473...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines nucléaires › Protéine BRCA2 › Deleterious somatic variants in 473...
questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Marqueurs biologiques tumoraux › Deleterious somatic variants in 473...
questionsmedicales.fr › Sciences de l'information › Informatique › Biologie informatique › Deleterious somatic variants in 473...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Variation structurale du génome › Variations de nombre de copies de segment d'ADN › Deleterious somatic variants in 473...
questionsmedicales.fr › Phénomènes génétiques › Méthylation de l'ADN › Deleterious somatic variants in 473...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques › Deleterious somatic variants in 473...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Deleterious somatic variants in 473...
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de médecine préventive › Services de diagnostic › Dépistage génétique › Deleterious somatic variants in 473...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation germinale › Deleterious somatic variants in 473...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Séquençage nucléotidique à haut débit › Deleterious somatic variants in 473...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Deleterious somatic variants in 473...
questionsmedicales.fr › Maladies endocriniennes › Troubles gonadiques › Maladies ovariennes › Tumeurs de l'ovaire › Deleterious somatic variants in 473...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Registre civil › Morbidité › Prévalence › Deleterious somatic variants in 473...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Éléments de régulation transcriptionnelle › Régions promotrices (génétique) › Deleterious somatic variants in 473...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Délétion de séquence › Deleterious somatic variants in 473...