Skipping Nonsense to Maintain Function: The Paradigm of

Adult Aged Aged, 80 and over Alternative Splicing Animals BRCA2 Protein / genetics Cell Line, Tumor Embryonic Stem Cells Exons / genetics Female Genetic Predisposition to Disease Hereditary Breast and Ovarian Cancer Syndrome / genetics Humans Loss of Function Mutation Male Mice Middle Aged Pedigree Polymorphism, Single Nucleotide Recombinant Proteins / genetics

Journal

Cancer research
ISSN: 1538-7445
Titre abrégé: Cancer Res
Pays: United States
ID NLM: 2984705R

Informations de publication

Date de publication:
01 04 2020
Historique:
received: 14 08 2019
revised: 18 12 2019
accepted: 06 02 2020
pubmed: 13 2 2020
medline: 21 10 2020
entrez: 13 2 2020
Statut: ppublish

Résumé

Germline nonsense and canonical splice site variants identified in disease-causing genes are generally considered as loss-of-function (LoF) alleles and classified as pathogenic. However, a fraction of such variants could maintain function through their impact on RNA splicing. To test this hypothesis, we used the alternatively spliced

Identifiants

DOI: 10.1158/0008-5472.CAN-19-2491 PMID: 32046981
pubmed: 32046981
pii: 0008-5472.CAN-19-2491
doi: 10.1158/0008-5472.CAN-19-2491
doi:

Substances chimiques

BRCA2 Protein 0
BRCA2 protein, human 0
Recombinant Proteins 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

1374-1386

Informations de copyright

©2020 American Association for Cancer Research.

Auteurs

Laëtitia Meulemans (L)

Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.

Romy L S Mesman (RLS)

Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
ORCID: 0000-0001-9783-7138

Sandrine M Caputo (SM)

Department of Genetics, Institut Curie, Paris, France.
PSL Research University, Paris, France.
ORCID: 0000-0001-5338-9388

Sophie Krieger (S)

Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Laboratory of Cancer Biology and Genetics, Centre François Baclesse, Caen, France.
Normandie University, UNICAEN, Caen, France.

Marine Guillaud-Bataille (M)

Department of Genetics, Institut Gustave Roussy, Villejuif, France.

Virginie Caux-Moncoutier (V)

Department of Genetics, Institut Curie, Paris, France.
PSL Research University, Paris, France.

Mélanie Léone (M)

Hospices Civils de Lyon, Bron, France.

Nadia Boutry-Kryza (N)

Hospices Civils de Lyon, Bron, France.

Johanna Sokolowska (J)

Department of Genetics, Nancy University Hospital, Nancy, France.

Françoise Révillion (F)

Unit of Human Molecular Oncology, Centre Oscar Lambret, Lille, France.

Capucine Delnatte (C)

Department of Genetics, Nantes University Hospital, Nantes, France.

Hélène Tubeuf (H)

Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Interactive Biosoftware, Rouen, France.
ORCID: 0000-0001-6671-1567

Omar Soukarieh (O)

Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.

Françoise Bonnet-Dorion (F)

Inserm U916, Department of Genetics, Institut Bergonié, Bordeaux, France.

Virginie Guibert (V)

Department of Genetics, Nantes University Hospital, Nantes, France.

Myriam Bronner (M)

Department of Genetics, Nancy University Hospital, Nancy, France.

Violaine Bourdon (V)

Department of Genetics, Institut Paoli-Calmettes, Marseille, France.

Sarab Lizard (S)

Department of Genetics, Nancy University Hospital, Nancy, France.

Paul Vilquin (P)

Department of Pathology and Oncobiology, Montpellier University Hospital, Montpellier, France.

Maud Privat (M)

University of Clermont Auvergne, Inserm U1240, Clermont Ferrand, France.
Department of Oncogenetics, Centre Jean Perrin, Clermont Ferrand, France.

Aurélie Drouet (A)

Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.

Charlotte Grout (C)

Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.

Fabienne M G R Calléja (FMGR)

Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.

Lisa Golmard (L)

Department of Genetics, Institut Curie, Paris, France.
PSL Research University, Paris, France.

Harry Vrieling (H)

Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
ORCID: 0000-0002-3034-2664

Dominique Stoppa-Lyonnet (D)

Department of Genetics, Institut Curie, Paris, France.
Inserm U830, University Paris Descartes, Paris, France.
ORCID: 0000-0002-5438-8309

Claude Houdayer (C)

Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Department of Genetics, Institut Curie, Paris, France.
Department of Genetics, Rouen University Hospital, Rouen, France.

Thierry Frebourg (T)

Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Department of Genetics, Rouen University Hospital, Rouen, France.

Maaike P G Vreeswijk (MPG)

Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
ORCID: 0000-0003-4068-9271

Alexandra Martins (A)

Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.

Pascaline Gaildrat (P)

Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France. pascaline.gaildrat@univ-rouen.fr.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Skipping Nonsense to Maintain Function: The Paradigm of
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › Skipping Nonsense to Maintain Function: The Paradigm of
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › Sujet âgé de 80 ans ou plus › Skipping Nonsense to Maintain Function: The Paradigm of
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Maturation post-transcriptionnelle des ARN › Épissage des ARN › Épissage alternatif › Skipping Nonsense to Maintain Function: The Paradigm of
questionsmedicales.fr › Eucaryotes › Animaux › Skipping Nonsense to Maintain Function: The Paradigm of
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines nucléaires › Protéine BRCA2 › Skipping Nonsense to Maintain Function: The Paradigm of
questionsmedicales.fr › Cellules › Cellules cultivées › Cellules cancéreuses en culture › Lignée cellulaire tumorale › Skipping Nonsense to Maintain Function: The Paradigm of
questionsmedicales.fr › Cellules › Cellules souches › Cellules souches pluripotentes › Cellules souches embryonnaires › Skipping Nonsense to Maintain Function: The Paradigm of
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Exons › Skipping Nonsense to Maintain Function: The Paradigm of
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Skipping Nonsense to Maintain Function: The Paradigm of
questionsmedicales.fr › Maladies endocriniennes › Troubles gonadiques › Maladies ovariennes › Tumeurs de l'ovaire › Syndrome héréditaire de cancer du sein et de l'ovaire › Skipping Nonsense to Maintain Function: The Paradigm of
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Skipping Nonsense to Maintain Function: The Paradigm of
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation perte de fonction › Skipping Nonsense to Maintain Function: The Paradigm of
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Skipping Nonsense to Maintain Function: The Paradigm of
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Skipping Nonsense to Maintain Function: The Paradigm of
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › Skipping Nonsense to Maintain Function: The Paradigm of
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Skipping Nonsense to Maintain Function: The Paradigm of
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines recombinantes › Skipping Nonsense to Maintain Function: The Paradigm of