Article
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Clinical genetics - 1 Nov 2023
Faivre Laurence, Crépin Jean-Charles, Réda Manon, Nambot Sophie, Carmignac Virginie, Abadie Caroline, Mirault Tristan, Faure-Conter Cécile, Mazereeuw-Hautier Juliette, Maza Aude, Puzenat Eve, Collonge-Rame Marie-Agnès, Bursztejn Anne-Claire, Philippe Christophe, Thauvin-Robinet Christel, Chevarin Martin, Abasq-Thomas Claire, Amiel Jeanne, Arpin Stéphanie, Barbarot Sébastien, Baujat Geneviève, Bessis Didier, Bourrat Emmanuelle, Boute Odile, Chassaing Nicolas, Coubes Christine, Demeer Bénédicte, Edery Patrick, El Chehadeh Salima, Goldenberg Alice, Hadj-Rabia Smail, Haye Damien, Isidor Bertrand, Jacquemont Marie-Line, Van Kien Philippe Khau, Lacombe Didier, Lehalle Daphné, Lambert Laetitia, Martin Ludovic, Maruani Annabel, Morice-Picard Fanny, Petit Florence, Phan Alice, Pinson Lucile, Rossi Massimiliano, Touraine Renaud, Vanlerberghe Clémence, Vincent Marie, Vincent-Delorme Catherine, Whalen Sandra, Willems Marjolaine, Marle Nathalie, Verkarre Virginie, Devalland Christine, Devouassoux-Shisheboran Mojgan, Abad Marine, Rioux-Leclercq Nathalie, Bonniaud Bertille, Duffourd Yannis, Martel Jehanne, Binquet Christine, Kuentz Paul, Vabres Pierre
Abstract excerpt
The PIK3CA-related overgrowth spectrum (PROS) encompasses various conditions caused by mosaic activating PIK3CA variants. PIK3CA somatic variants are also involved in various cancer types. Some generalized overgrowth syndromes are associated with an increased risk of Wilms tumor (WT). In PROS, abdominal ultrasound surveillance has been advocated to detect WT. We aimed to determine the risk of embryonic and other...
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