Article
Classification of PTEN germline non-truncating variants: a new approach to interpretation.
Journal of medical genetics - 25 Nov 2024
Margot Henri, Jones Natalie, Matis Thibaut, Bonneau Dominique, Busa Tiffany, Bonnet Françoise, Conrad Solene, Crivelli Louise, Monin Pauline, Fert-Ferrer Sandra, Mortemousque Isabelle, Raad Sabine, Lacombe Didier, Caux Frédéric, Sevenet Nicolas, Bubien Virginie, Longy Michel
Abstract excerpt
BACKGROUND: PTEN hamartoma tumour syndrome (PHTS) encompasses distinct syndromes, including Cowden syndrome resulting from PTEN pathogenic variants. Missense variants account for 30% of PHTS cases, but their classification remains challenging. To address these difficulties, guidelines were published by the Clinical Genome Resource PTEN Variant Curation Expert Panel. METHODS: Between 2010 and 2020, the Bergonie...
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