ArticleAmerican journal of human genetics2021
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Registry-linked trialAbstract read
In one paragraph
Article in American journal of human genetics, 2021. 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 23 papers.
0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
–field-weighted citation impact
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
23 citing papers in PubMed.
- PARP Inhibitor Sensitivity in Tumors Harboring Non-BRCA Homologous Recombination Gene Alterations: Current Evidence Across Ovarian, Breast, Prostate, and Pancreatic Cancers.International journal of molecular sciences · 2026Review
- Recent Advances in Genetic Testing and Clinical Management of Hereditary Breast and Ovarian Cancer (HBOC) in India.Cancer medicine · 2026Review
- Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification.Nature communications · 2026Article
- GermlineCurrent oncology (Toronto, Ont.) · 2025Article
- Article
- A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.NPJ genomic medicine · 2025Article
- Ovarian cancer and its management through advanced drug delivery system.Medical oncology (Northwood, London, England) · 2025Review
- Reclassification of VUS inGenetics in medicine open · 2025Article
- Whole-exome sequencing and Drosophila modelling reveal mutated genes and pathways contributing to human ovarian failure.Reproductive biology and endocrinology : RB&E · 2024Article
- Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.American journal of human genetics · 2024Article
- Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management.Cancer medicine · 2024Article
- The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination.Nucleic acids research · 2024Article
- Article
- shinyseg: a web application for flexible cosegregation and sensitivity analysis.Bioinformatics (Oxford, England) · 2024Article
- RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis.Human mutation · 2024Article
- Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.JAMA network open · 2023Article
- Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort.Cancers · 2023Article
- Comprehensive clinical characterization of patients withAnnals of surgical treatment and research · 2022Article
- Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.Genome medicine · 2022Article
- A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants.International journal of molecular sciences · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
160 authors.
Sandrine M CaputoDepartment of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France. Electronic address: sandrine.caputo@curie.fr.
Lisa GolmardDepartment of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Mélanie LéoneService de Génétique, plate-forme mixte des cancers fréquents, Hospices Civils de Lyon, Bron 69229, France.
Francesca DamiolaCentre Léon Bérard, Lyon 69373, France.
Marine Guillaud-BatailleService de Génétique des Tumeurs, Gustave Roussy, Villejuif 94806, France.
Françoise RevillionDepartment of Genetics, Centre Oscar Lambret, Lille 59000, France.
Etienne RouleauService de Génétique des Tumeurs, Gustave Roussy, Villejuif 94806, France.
Nicolas DeriveDepartment of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Adrien BuissonService de Génétique, plate-forme mixte des cancers fréquents, Hospices Civils de Lyon, Bron 69229, France.
Noémie BassetDépartement de génétique, AP-HP, Sorbonne université-Site Pitié-Salpêtrière, Paris 75013, France.
Mathias SchwartzDepartment of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Paul VilquinDépartement Pathologie et Oncobiologie, CHU Montpellier, Montpellier 34070, France.
Celine GarrecLaboratoire de Génétique Moléculaire, Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Nantes, Nantes 44093, France.
Maud PrivatDépartement d'Oncogénétique, Centre Jean Perrin, Clermont-Ferrand 63000, France.
Mathilde Gay-BellileDépartement d'Oncogénétique, Centre Jean Perrin, Clermont-Ferrand 63000, France; INSERM U1240, Université Clermont Auvergne, Clermont-Ferrand 63000, France.
Caroline AbadieUnité d'Oncogénétique, Institut de Cancérologie de l'Ouest, Centre René Gauducheau, St Herbain-Nantes 44805, France.
Khadija AbidallahDepartment of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Fabrice AiraudLaboratoire de Génétique Moléculaire, Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Nantes, Nantes 44093, France.
Anne-Sophie AllaryDepartment of Cancer Biology, Laboratory of Molecular Oncogenetics, Institut Paoli Calmettes, Marseille 13273, France.
Emmanuelle Barouk-SimonetUnité d'Oncogénétique, Institut Bergonié, Bordeaux 33076, France.
Muriel BelottiDepartment of Genetics, Institut Curie, Paris 75005, France; Clinical research direction, Institut Curie, Paris 75005, France.
Charlotte BenigniHôpital d'Enfants, CHRU Nancy Hopitaux de Brabois, Vandoeuvre les Nancy 54500, France.
Patrick R BenusiglioUF d'Oncogénétique, GH Pitié-Salpêtrière, AP-HP, Sorbonne Université, Paris 75013, France.
Christelle BertheminDepartment of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Pascaline BerthetOncogenetic, Department of Biopathology, Comprehensive Cancer Center François Baclesse, Caen 14076, France.
Ophelie BertrandDepartment of Genetics, Institut Curie, Saint-Cloud 92210, France.
Stéphane BézieauLaboratoire de Génétique Moléculaire, Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Nantes, Nantes 44093, France.
Marie BidartLaboratoire de Génétique Moléculaire: Maladies Héréditaires et Oncologie, CHU Grenoble Alpes, Grenoble 38700, France; INSERM 1209, Université Grenoble Alpes, Grenoble 38700, France.
Yves-Jean BignonDepartment of Oncogenetics, Centre Jean Perrin, UMR INSERM 1240, Université Clermont Auvergne, Clermont-Ferrand Cedex 63011, France.
Anne-Marie BirotService de Génétique, Hôpital Européen Georges Pompidou, Paris 75015, France.
Maud BlanluetDepartment of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Amelie BloucardDepartment of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Johny BombledService de Génétique des Tumeurs, Gustave Roussy, Villejuif 94806, France.
Valerie BonadonaDépartement Prévention Santé Publique, Centre Léon Bérard, Lyon 69008, France.
Françoise BonnetUnité d'Oncogénétique, Institut Bergonié, Bordeaux 33076, France.
Marie-Noëlle Bonnet-DupeyronConsultations de Génétique, Centre Hospitalier de Valence, Valence 26953, France.
Manon BoulaireDepartment of Genetics, Centre Oscar Lambret, Lille 59000, France.
Flavie BoulouardLaboratory of Cancer Biology and Genetics, Comprehensive Cancer Center François Baclesse, Caen 14076, France.
Ahmed BourasService de Génétique, plate-forme mixte des cancers fréquents, Hospices Civils de Lyon, Bron 69229, France.
Violaine BourdonDepartment of Cancer Biology, Laboratory of Molecular Oncogenetics, Institut Paoli Calmettes, Marseille 13273, France.
Afane BrahimiDepartment of Genetics, CHU Lille, Lille 59000, France.
Fanny BrayotelOncogenetics Laboratory, Institut Godinot, Reims 51726, France.
Brigitte Bressac de PailleretsService de Génétique des Tumeurs, Gustave Roussy, Villejuif 94806, France.
Noémie BronnecGénétique Médicale, CHU Bordeaux, Bordeaux 33076, France.
Virginie BubienUnité d'Oncogénétique, Institut Bergonié, Bordeaux 33076, France.
Bruno BuecherDepartment of Genetics, Institut Curie, Paris 75005, France.
Odile CabaretService de Génétique des Tumeurs, Gustave Roussy, Villejuif 94806, France.
Jennifer CarriereDepartment of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Jean ChiesaDepartment of Genetics, Centre Hospitalier Régional Universitaire, Nimes 30029, France.
Stephanie Chieze-ValéroService Oncogénétique Régional Poitou-Charentes, CH Georges Renon, Niort 79000, France.
Camille CohenService de Génétique, CHI de Poissy-Saint Germain En Laye, Poissy 78300, France.
Odile Cohen-HaguenauerService de Génétique, CHI de Poissy-Saint Germain En Laye, Poissy 78300, France.
Chrystelle ColasDepartment of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Marie-Agnès Collonge-RameOncobiologie Génétique Bioinformatique, CHRU Besançon, Besançon 25030, France.
Anne-Laure ConoyDepartment of Genetics, Centre Oscar Lambret, Lille 59000, France.
Florence CouletDépartement de génétique, AP-HP, Sorbonne université-Site Pitié-Salpêtrière, Paris 75013, France.
Isabelle CoupierDépartement Pathologie et Oncobiologie, CHU Montpellier, Montpellier 34070, France.
Louise CrivelliCentre Eugène Marquis, Rennes, France.
Véronica CusinDépartement de génétique, AP-HP, Sorbonne université-Site Pitié-Salpêtrière, Paris 75013, France.
Antoine De PauwDepartment of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Catherine DehainaultDepartment of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Hélène DelhomelleDepartment of Genetics, Institut Curie, Saint-Cloud 92210, France.
Capucine DelnatteLaboratoire de Génétique Moléculaire, Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Nantes, Nantes 44093, France; Unité d'Oncogénétique, Institut de Cancérologie de l'Ouest, Centre René Gauducheau, St Herbain-Nantes 44805, France.
Sophie DemontetyDepartment of Genetics, Institut Curie, Paris 75005, France.
Philippe DenizeauCentre Hospitalo-Universitaire Rennes, Rennes 35000, France.
Pierre DevulderOncogenetic, Department of Biopathology, Comprehensive Cancer Center François Baclesse, Caen 14076, France.
Helene DreyfusInstitut Sainte Catherine, Avignon 84082, France.
Catherine Dubois d'EngheinDepartment of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Anaïs DupréUnité d'Oncogénétique, Institut Bergonié, Bordeaux 33076, France.
Anne DurlachConsultation oncogénétique, CHU Reims, Reims 51092, France.
Sophie DussartDépartement Prévention Santé Publique, Centre Léon Bérard, Lyon 69008, France.
Anne FajacService d'Anatomie et Cytologie Pathologiques, Hôpital Tenon, AP-HP, Sorbonne Université, Paris 75020, France.
Samira FekairiDepartment of Cancer Biology, Laboratory of Molecular Oncogenetics, Institut Paoli Calmettes, Marseille 13273, France.
Sandra Fert-FerrerUF Consultation de génétique, Centre Hospitalier Métropole Savoie, Chambéry 73011, France.
Alice FiévetService de Génétique des Tumeurs, Gustave Roussy, Villejuif 94806, France.
Robin FouilletLaboratory of Cancer Biology and Genetics, Comprehensive Cancer Center François Baclesse, Caen 14076, France.
Emmanuelle Mouret-FourmeDepartment of Genetics, Institut Curie, Saint-Cloud 92210, France.
Marion Gauthier-VillarsDepartment of Genetics, Institut Curie, Paris 75005, France.
Paul GestaService Oncogénétique Régional Poitou-Charentes, CH Georges Renon, Niort 79000, France.
Sophie GiraudHospices Civils de Lyon, Lyon 69229, France.
Laurence GladieffOncogenetics Department, Institut Claudius Regaud, Toulouse 31059, France.
Veronica GoldbargGustave Roussy, Département de médecine oncologique, Villejuif 94805, France.
Vincent GoussotDépartement de Biologie et Pathologie des Tumeurs, Centre Georges François Leclerc, Dijon 21000, France.
Virginie GuibertLaboratoire de Génétique Moléculaire, Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Nantes, Nantes 44093, France.
Erell GuillermDépartement de génétique, AP-HP, Sorbonne université-Site Pitié-Salpêtrière, Paris 75013, France.
Christophe GuyDepartment of Genetics, Institut Curie, Paris 75005, France.
Agnès HardouinLaboratory of Cancer Biology and Genetics, Comprehensive Cancer Center François Baclesse, Caen 14076, France.
Céline HeudeOncogenetic, Department of Biopathology, Comprehensive Cancer Center François Baclesse, Caen 14076, France.
Claude HoudayerDepartment of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Olivier IngsterDépartement de Génétique Médicale/oncogénétique, CHU Angers, Angers 49000, France.
Caroline Jacquot-SawkaCentre de Génétique, CHU de Dijon (hopital François Mitterand) and CLCC de Dijon (Centre Georges François Leclerc), Dijon 21000, France.
Natalie JonesUnité d'Oncogénétique, Institut Bergonié, Bordeaux 33076, France.
Sophie KriegerLaboratory of Cancer Biology and Genetics, Comprehensive Cancer Center François Baclesse, Caen 14076, France; Inserm U1245, Rouen University, Normandy Centre for Genomic and Personalized Medicine, Rouen 76031, France.
Sofiane LacosteDepartment of Genetics, Institut Curie, Paris 75005, France.
Hakima LallaouiCH La rochelle, La Rochelle 17000, France.
Helene LarbreOncogenetics Laboratory, Institut Godinot, Reims 51726, France.
Anthony LaugéDepartment of Genetics, Institut Curie, Paris 75005, France.
Gabrielle Le GuyadecLaboratoire de Génétique Moléculaire: Maladies Héréditaires et Oncologie, CHU Grenoble Alpes, Grenoble 38700, France.
Marine Le MentecDepartment of Genetics, Institut Curie, Paris 75005, France.
Caroline LecerfDepartment of Genetics, Institut Curie, Paris 75005, France.
Jessica Le GallDepartment of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Bérengère LegendreDepartment of Genetics, Centre Oscar Lambret, Lille 59000, France.
Clémentine LegrandService de Génétique, CHU Grenoble Alpes, Grenoble 38700, France.
Angélina LegrosLaboratory of Cancer Biology and Genetics, Comprehensive Cancer Center François Baclesse, Caen 14076, France.
Sophie LejeuneDepartment of Genetics, CHU Lille, Lille 59000, France.
Rosette LidereauDepartment of Genetics, Institut Curie, Paris 75005, France.
Norbert LignonOncogenetics Department, Institut Claudius Regaud, Toulouse 31059, France.
Jean-Marc LimacherGénétique Oncologique Clinique, Hospices Civils de Colmar, Colmar 68000, France.
Doriane LivonDepartment of Clinical Cancer Genetics, Institut Paoli-Calmettes, Marseille 13273, France.
Sarab LizardDepartment of Genetics, CHRU Nancy Hopitaux de Brabois, Vandoeuvre les Nancy 54500, France.
Michel LongyUnité d'Oncogénétique, Institut Bergonié, Bordeaux 33076, France.
Alain LortholaryDepartment of Genetics, Hôpital Privé du Confluent, Nantes 44202, France.
Pierre MacquereUnité d'Oncogénétique, Institut Bergonié, Bordeaux 33076, France.
Audrey MailliezDepartment of Genetics, Centre Oscar Lambret, Lille 59000, France.
Sarah MalsaDepartment of Genetics, CHU de Martinique, Fort de France 97200, Martinique.
Henri MargotUnité d'Oncogénétique, Institut Bergonié, Bordeaux 33076, France.
Véronique MariService oncogénétique, Centre Antoine Lacassagne, Nice 06189, France.
Christine MaugardGénétique Oncologique Moléculaire, Hôpital de Hautepierre, Strasbourg 67000, France.
Cindy MeiraDepartment of Genetics, Centre Oscar Lambret, Lille 59000, France.
Julie MenjardDepartment of Genetics, CHU Brest, Brest 29600, France.
Diane MolièreService de Génétique, Hôpital Européen Georges Pompidou, Paris 75015, France.
Virginie MoncoutierDepartment of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Jessica Moretta-SerraDepartment of Clinical Cancer Genetics, Institut Paoli-Calmettes, Marseille 13273, France.
Etienne MullerLaboratory of Cancer Biology and Genetics, Comprehensive Cancer Center François Baclesse, Caen 14076, France; Inserm U1245, Rouen University, Normandy Centre for Genomic and Personalized Medicine, Rouen 76031, France.
Zoe NevièreOncogenetic, Department of Biopathology, Comprehensive Cancer Center François Baclesse, Caen 14076, France.
Thien-Vu Nguyen Minh TuanDepartment of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Tetsuro NoguchiDepartment of Cancer Biology, Laboratory of Molecular Oncogenetics, Institut Paoli Calmettes, Marseille 13273, France.
Catherine NoguèsDepartment of Clinical Cancer Genetics, Institut Paoli-Calmettes, Marseille 13273, France.
Florine OcaDepartment of Genetics, Centre Oscar Lambret, Lille 59000, France.
Cornel PopoviciDepartment of Cancer Biology, Laboratory of Molecular Oncogenetics, Institut Paoli Calmettes, Marseille 13273, France.
Fabienne PrieurService de Génétique, CHU St Etienne, Saint Etienne 42055, France.
Sabine RaadUnité d'Oncogénétique, Institut Bergonié, Bordeaux 33076, France.
Jean-Marc ReyDépartement Pathologie et Oncobiologie, CHU Montpellier, Montpellier 34070, France.
Agathe RicouLaboratory of Cancer Biology and Genetics, Comprehensive Cancer Center François Baclesse, Caen 14076, France; Inserm U1245, Rouen University, Normandy Centre for Genomic and Personalized Medicine, Rouen 76031, France.
Lucie SalleService Oncogénétique Régional Poitou-Charentes, CH Georges Renon, Niort 79000, France.
Claire SauleDepartment of Genetics, Institut Curie, Saint-Cloud 92210, France.
Nicolas SevenetUnité d'Oncogénétique, Institut Bergonié, Bordeaux 33076, France.
Fatoumata SimagaDepartment of Genetics, Institut Curie, Paris 75005, France.
Hagay SobolDepartment of Cancer Biology, Laboratory of Molecular Oncogenetics, Institut Paoli Calmettes, Marseille 13273, France.
Voreak SuybengDepartment of Genetics, Institut Curie, Paris 75005, France.
Isabelle TennevetDepartment of Genetics, Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen 76031, France; Department of Oncology, Comprehensive Cancer Centre Henri Becquerel, Normandy Centre for Genomic and Personalized Medicine, Rouen 76031, France.
Henrique TenreiroDepartment of Genetics, Institut Curie, Paris 75005, France.
Julie TinatGénétique Médicale, CHU Bordeaux, Bordeaux 33076, France.
Christine ToulasOncogenetics Laboratory, Institut Claudius Regaud, Toulouse 31059, France.
Isabelle TurbiezClinical research direction, Institut Curie, Paris 75005, France.
Nancy UhrhammerDépartement d'Oncogénétique, Centre Jean Perrin, Clermont-Ferrand 63000, France; INSERM U1240, Université Clermont Auvergne, Clermont-Ferrand 63000, France.
Pierre Vande PerreOncogenetics Laboratory, Institut Claudius Regaud, Toulouse 31059, France.
Dominique VaurLaboratory of Cancer Biology and Genetics, Comprehensive Cancer Center François Baclesse, Caen 14076, France; Inserm U1245, Rouen University, Normandy Centre for Genomic and Personalized Medicine, Rouen 76031, France.
Laurence VenatDepartment of oncology, CHU Dupuytren, Limoges 87042, France.
Nicolas ViellardDepartment of Genetics, Institut Curie, Paris 75005, France.
Marie-Charlotte VillyDepartment of Genetics, Institut Curie, Paris 75005, France.
Mathilde WarcoinDepartment of Genetics, Institut Curie, Paris 75005, France.
Alice YvardDepartment of Genetics, Hôpital Privé du Confluent, Nantes 44202, France.
Helene ZattaraDepartment of Genetics, Centre Oscar Lambret, Lille 59000, France.
Olivier CaronGustave Roussy, Département de médecine oncologique, Villejuif 94805, France.
Christine LassetDépartement Prévention Santé Publique, Centre Léon Bérard, Lyon 69008, France.
Audrey RemenierasDepartment of Cancer Biology, Laboratory of Molecular Oncogenetics, Institut Paoli Calmettes, Marseille 13273, France.
Nadia Boutry-KryzaService de Génétique, plate-forme mixte des cancers fréquents, Hospices Civils de Lyon, Bron 69229, France.
Laurent CastéraLaboratory of Cancer Biology and Genetics, Comprehensive Cancer Center François Baclesse, Caen 14076, France; Inserm U1245, Rouen University, Normandy Centre for Genomic and Personalized Medicine, Rouen 76031, France.
Dominique Stoppa-LyonnetDepartment of Genetics, Institut Curie, Paris 75005, France; Paris University, Paris 75005, France; INSERM U830, Institut Curie, Paris 75005, France.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance (VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and ovarian cancer prevention measures and treatment by PARP inhibitors. We report the first results of the ongoing French national COVAR (cosegregation variant) study, the aim of which is to classify BRCA1/2 VUSs. The classification method was a multifactorial model combining different associations between VUSs and cancer, including cosegregation data. At this time, among the 653 variants selected, 101 (15%) distinct variants shared by 1,624 families were classified as pathogenic/likely pathogenic or benign/likely benign by the COVAR study. Sixty-six of the 101 (65%) variants classified by COVAR would have remained VUSs without cosegregation data. Of note, among the 34 variants classified as pathogenic by COVAR, 16 remained VUSs or likely pathogenic when following the ACMG/AMP variant classification guidelines. Although the initiation and organization of cosegregation analyses require a considerable effort, the growing number of available genetic tests results in an increasing number of families sharing a particular variant, and thereby increases the power of such analyses. Here we demonstrate that variant cosegregation analyses are a powerful tool for the classification of variants in the BRCA1/2 breast-ovarian cancer predisposition genes.
Indexed as
Genetic Predisposition to DiseaseGenetic VariationBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsFemaleGenetic TestingGenotypeHumansOvarian NeoplasmsBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanBRCA1BRCA2classificationclinicalcosegregation datamultifactorial modelvariant of uncertain significance
Identifiers
What OpenQuestion holds
Textmetadata
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.