Molecular diagnosis of retinoblastoma by circulating tumor DNA analysis.

doi:10.1016/j.ejca.2021.05.039

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Article

Molecular diagnosis of retinoblastoma by circulating tumor DNA analysis.

European journal of cancer (Oxford, England : 1990) - 1 Sept 2021

Jiménez Irene, Frouin Éléonore, Chicard Mathieu, Dehainault Catherine, Le Gall Jessica, Benoist Camille, Gauthier Arnaud, Lapouble Eve, Houdayer Claude, Radvanyi François, Bernard Virginie, Brisse Hervé J, Gauthier-Villars Marion, Stoppa-Lyonnet Dominique, Baulande Sylvain, Cassoux Nathalie, Lumbroso Livia, Matet Alexandre, Aerts Isabelle, Renault Victor, Doz François, Golmard Lisa, Delattre Olivier, Schleiermacher Gudrun

Abstract excerpt

PURPOSE: The analysis of circulating tumor DNA (ctDNA), a fraction of total cell-free DNA (cfDNA), might be of special interest in retinoblastoma patients. Because the accessibility to tumor tissue is very limited in these patients, either for histopathological diagnosis of suspicious intraocular masses (biopsies are proscribed) or for somatic RB1 studies and genetic counseling (due to current successful...

Topics

Child
Child, Preschool
Circulating Tumor DNA
Computational Biology
Female
Humans
Infant
Male
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Retinoblastoma

Retinoblastoma Binding Proteins

Retrospective Studies

Ubiquitin-Protein Ligases

Source

Open in PubMed

Identifiers

PMID: 34298378
DOI: 10.1016/j.ejca.2021.05.039

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