Cargando…

Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes

BACKGROUND: Targeted therapies in oncology are promising but variants of uncertain significance (VUS) limit their use for clinical management and necessitate functional testing in vitro. Using BRCA1 and BRCA2 variants, which have consequences on PARP inhibitor sensitivity, and POLE variants, potenti...

Descripción completa

Detalles Bibliográficos
Autores principales:	Billaud, Amandine, Chevalier, Louise-Marie, Augereau, Paule, Frenel, Jean-Sebastien, Passot, Christophe, Campone, Mario, Morel, Alain
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8576946/ https://www.ncbi.nlm.nih.gov/pubmed/34749799 http://dx.doi.org/10.1186/s13073-021-00976-x

Ejemplares similares

Impact of HER2 Status on Pathological Response after Neoadjuvant Chemotherapy in Early Triple-Negative Breast Cancer
por: Domergue, Camille, et al.
Publicado: (2022)

Non-Small-Cell Lung Cancer-Sensitive Detection of the p.Thr790Met EGFR Alteration by Preamplification before PNA-Mediated PCR Clamping and Pyrosequencing
por: Billaud, Amandine, et al.
Publicado: (2020)

Hormonoresistance in advanced breast cancer: a new revolution in endocrine therapy
por: Augereau, Paule, et al.
Publicado: (2017)

Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease
por: Fear, Vanessa S., et al.
Publicado: (2023)

Targeting the PI3K/Akt/mTOR pathway in estrogen-receptor positive HER2 negative advanced breast cancer
por: du Rusquec, Pauline, et al.
Publicado: (2020)

Variants of Uncertain Significance and “Missing Pathogenicity”
por: Fatkin, Diane, et al.
Publicado: (2020)

On the significance of edges for connectivity in uncertain random graphs
por: Li, Hao, et al.
Publicado: (2021)

Clinical utility of pembrolizumab in the management of advanced solid tumors: an evidence-based review on the emerging new data
por: du Rusquec, Pauline, et al.
Publicado: (2019)

Optimizing the Retrieval of the Vital Status of Cancer Patients for Health Data Warehouses by Using Open Government Data in France
por: Lauzanne, Olivier, et al.
Publicado: (2022)

Opportunities and Obstacles to the Development of Health Data Warehouses in Hospitals in France: The Recent Experience of Comprehensive Cancer Centers
por: Bocquet, François, et al.
Publicado: (2023)

The predictive value of patient-reported outcomes on the impact of breast cancer treatment-related quality of life
por: Zhou, Ke, et al.
Publicado: (2022)

Incidental findings of uncertain significance: To know or not to know - that is not the question
por: Hofmann, Bjørn
Publicado: (2016)

The functional impact of variants of uncertain significance in BRCA2
por: Mesman, Romy L. S., et al.
Publicado: (2018)

Uncertain science ... uncertain world
por: Pollack, Henry N
Publicado: (2003)

The EPICURE study: a pilot prospective cohort study of heterogeneous and massive data integration in metastatic breast cancer patients
por: Colombié, Mathilde, et al.
Publicado: (2021)

Strategically influencing an uncertain future
por: Govaert, Alain, et al.
Publicado: (2020)

Erratum to: Incidental findings of uncertain significance: To know or not to know – that is not the question
por: Hofmann, Bjørn
Publicado: (2016)

Functional characterization of 84 PALB2 variants of uncertain significance
por: Wiltshire, Timothy, et al.
Publicado: (2019)

To offer or request? Disclosing variants of uncertain significance in prenatal testing
por: Watts, Gabriel, et al.
Publicado: (2021)

bc-GenExMiner 3.0: new mining module computes breast cancer gene expression correlation analyses
por: Jézéquel, Pascal, et al.
Publicado: (2013)

Uncertain hypothesis test for uncertain differential equations
por: Ye, Tingqing, et al.
Publicado: (2022)

'A variant of uncertain significance' and the proliferation of human disease gene databases
por: Nelson, David R
Publicado: (2005)

The known unknown: the challenges of genetic variants of uncertain significance in clinical practice
por: Hoffman-Andrews, Lily
Publicado: (2018)

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays
por: Frederiksen, Jane H., et al.
Publicado: (2021)

Cancer patients’ understandings of genetic variants of uncertain significance in clinical care
por: Amano, Yael, et al.
Publicado: (2022)

Transcriptome analysis provides critical answers to the “variants of uncertain significance” conundrum
por: Postel, Mackenzie D., et al.
Publicado: (2022)

Distribution and transmission of copy number variations of uncertain significance in 105 trios
por: Wen, Qiang, et al.
Publicado: (2022)

Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing
por: Chen, Elaine, et al.
Publicado: (2023)

Basic science methods for the characterization of variants of uncertain significance in hypertrophic cardiomyopathy
por: Doh, Chang Yoon, et al.
Publicado: (2023)

Amyotrophic lateral sclerosis with laboratory abnormalities of uncertain significance: A brief review
por: Ghasemi, Majid, et al.
Publicado: (2012)

Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?
por: Cheon, Jae Yeon, et al.
Publicado: (2014)

Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significance
por: SARI, Alper, et al.
Publicado: (2021)

Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia
por: Sanabria-de la Torre, Raquel, et al.
Publicado: (2022)

Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases
por: Mauro-Herrera, Margarita, et al.
Publicado: (2021)

Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans
por: Lange, Karen I, et al.
Publicado: (2021)

The myocardial bridge: incidence, diagnosis, and prognosis of a pathology of uncertain clinical significance
por: Santucci, Andrea, et al.
Publicado: (2022)

KCNC2 variants of uncertain significance are also associated to various forms of epilepsy
por: Seiffert, Simone, et al.
Publicado: (2023)

Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation
por: Kas, Sjors M., et al.
Publicado: (2023)

Uncertain Networks
por: Thompson, Jennifer
Publicado: (2019)

Uncertain web
por: Larsen, Rob
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_505a247h0bil16t8tvokgsrrvb