Article
Highly Sensitive Detection Method of DICER1 Tumor Hotspot Mutations by Drop-off Droplet Digital PCR.
Clinical chemistry - 1 Feb 2022
Vibert Roseline, Gauthier-Villars Marion, Carrière Christelle, Dubois d'Enghien Catherine, Cyrta Joanna, Vincent-Salomon Anne, Stoppa-Lyonnet Dominique, Bièche Ivan, Jeannot Emmanuelle, Golmard Lisa
Abstract excerpt
BACKGROUND: DICER1 syndrome is an autosomal dominant inherited syndrome predisposing to various benign and malignant tumors, mainly occurring in children and young adults, requiring broad surveillance starting at birth with repeated irradiating imaging exams and sedations for young patients. It is caused by monoallelic germline pathogenic variants in the DICER1 gene. More than 90% of tumors bear an additional...
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