ArticleCancer research2020
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using
Registry-linked trialOpen access · bronzeAbstract read
In one paragraph
Article in Cancer research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01689584 (Study of Family COsegregation of Nucleotide VARiants in the Panel of Genes to Validate Their Use in Genetic Counseling), which is not on this map. Cited by 20 papers.
0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
1.4field-weighted citation impact, top 19% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Study of Family COsegregation of Nucleotide VARiants in the Panel of Genes to Validate Their Use in Genetic Counseling
Who cites it
20 citing papers in PubMed, 26 citations in OpenAlex.
- Kidney Transcriptome Sequencing Improves Molecular Diagnosis and Reveals Splicing Complexity Across the Alport Spectrum.Kidney international reports · 2026Article
- Sequencing approaches in hereditary cancer testing: strengths, limitations and future directions.European journal of human genetics : EJHG · 2026Review
- When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classification.HGG advances · 2026Article
- Functional assays for BRCA1 and BRCA2 variant analysis: new tools and their applications.NPJ breast cancer · 2026Review
- RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network.European journal of human genetics : EJHG · 2025Review
- All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.Nucleic acids research · 2024Article
- CRISPR activation to characterize splice-altering variants in easily accessible cells.American journal of human genetics · 2024Article
- An intronic RNA element modulates Factor VIII exon-16 splicing.Nucleic acids research · 2024Article
- RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis.Human mutation · 2024Article
- Sequencing-based functional assays for classification of BRCA2 variants in mouse ESCs.Cell reports methods · 2023Article
- The splicing factor SNRPB promotes ovarian cancer progression through regulating aberrant exon skipping of POLA1 and BRCA2.Oncogene · 2023Article
- Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.Human mutation · 2022Article
- Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.International journal of molecular sciences · 2022Article
- Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis.Familial cancer · 2022Article
- Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes.Genome medicine · 2021Article
- Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.American journal of human genetics · 2021Article
- Intrinsic Disorder and Phosphorylation in BRCA2 Facilitate Tight Regulation of Multiple Conserved Binding Events.Biomolecules · 2021Review
- 5' Region Large Genomic Rearrangements in theCancers · 2021Article
- Article
- Splicing Outcomes of 5' Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays.Frontiers in genetics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
38 authors at 16 institutions in 5 countries.
Hélène TubeufInserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.ORCID 0000-0001-6671-1567
Sandrine M CaputoDepartment of Genetics, Institut Curie, Paris, France.ORCID 0000-0001-5338-9388
Teresa SullivanMouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, Maryland.
Julie RondeauxInserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Sophie KriegerInserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Virginie Caux-MoncoutierDepartment of Genetics, Institut Curie, Paris, France.
Julie HauchardInserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Gaia CastelainInserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Alice FiévetDepartment of Genetics, Institut Curie, Paris, France.ORCID 0000-0003-2096-8708
Laëtitia MeulemansInserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Françoise RévillionUnit of Human Molecular Oncology, Centre Oscar Lambret, Lille, France.
Mélanie LéonéHospices Civils de Lyon, Bron, France.
Nadia Boutry-KryzaHospices Civils de Lyon, Bron, France.
Capucine DelnatteDepartment of Genetics, Nantes University Hospital, Nantes, France.
Marine Guillaud-BatailleService Génétique des Tumeurs, Gustave Roussy, Villejuif, France.
Linda ClevelandMouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, Maryland.
Susan ReidMouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, Maryland.
Eileen SouthonMouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, Maryland.
Omar SoukariehInserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.ORCID 0000-0003-4923-4353
Aurélie DrouetInserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Daniela Di GiacomoInserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.ORCID 0000-0003-0700-9166
Myriam VezainInserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Françoise Bonnet-DorionInserm U1218, Department of Genetics, Institut Bergonié, Bordeaux, France.
Violaine BourdonDepartment of Genetics, Institut Paoli-Calmettes, Marseille, France.
Hélène LarbreLaboratoire d'Oncogénétique Moléculaire, Institut Godinot, Reims, France.
Danièle MullerUnité d'Oncogénétique, Centre Paul Strauss, Strasbourg, France.
Pascal PujolUnité d'Oncogénétique, CHU Arnaud de Villeneuve, Montpellier, France.
Fátima VazBreast Cancer Risk Evaluation Clinic, Portuguese Institute of Oncology of Lisbon, Lisbon, Portugal.
Séverine Audebert-BellangerDépartement de Génétique et Biologie de la Reproduction, CHU Morvan, Brest, France.
Chrystelle ColasDepartment of Genetics, Institut Curie, Paris, France.
Laurence Venat-BouvetService Oncologie, CHU Dupuytren, Limoges, France.ORCID 0000-0002-0716-2550
Angela R SolanoGenotipificacion y Cancer Hereditario, Departmento de Analisis Clinicos, Centro de Educacion Medica e Investigaciones Clinicas (CEMIC), Ciudad Autonoma de Buenos Aires, Argentina.
Dominique Stoppa-LyonnetDepartment of Genetics, Institut Curie, Paris, France.ORCID 0000-0002-5438-8309
Claude HoudayerInserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Thierry FrebourgInserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Pascaline GaildratInserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Shyam K SharanMouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, Maryland.ORCID 0000-0002-9333-870X
Alexandra MartinsInserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France. alexandra.martins@univ-rouen.fr.ORCID 0000-0003-4322-8497
Inserm · FRFrederick National Laboratory for Cancer Research · USUniversité Paris Sciences et Lettres · FRDélégation Paris 5 · FRHospices Civils de Lyon · FRBiologie de la Reproduction, Environnement, Epigénétique et Développement · FRCentre Hospitalier Universitaire de Nantes · FRCentre Oscar Lambret · FRCentro de Educación Médica e Investigaciones Clínicas Norberto Quirno · ARHôpital Arnaud de Villeneuve · FRHôpital Dupuytren · FRInstitut Gustave Roussy · FRInstitut Jean Godinot · FRInstituto Português de Oncologia Francisco Gentil · PTInstitut Paoli-Calmettes · FRLevi Strauss (United States) · US
Funding
Functional Evaluation of BRCA2 Variants on TumorigenesisZIABC010387 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI SHARAN, SHYAM · 2009 to 2025
$12.5MFunctional Analysis of Variants Identified in Human Breast Cancer SusceptibilityZIABC011181 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI SHARAN, SHYAM · 2009 to 2025
$11.6MIntramural NIH HHS ZIA BC011181
Abstract
PubMed holds no abstract for this paper.
Indexed as
Genes, BRCA2Alternative SplicingAnimalsBreast NeoplasmsExonsFemaleGenetic Predisposition to DiseaseHumansMiceOvarian NeoplasmsProtein IsoformsProtein Isoforms
Identifiers
What OpenQuestion holds
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Read underepoch 390
Registered trials
NCT01689584ClinicalTrials.gov
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.